Talk:Musculoskeletal System - Abnormalities
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Cite this page: Hill, M.A. (2021, February 24) Embryology Musculoskeletal System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Musculoskeletal_System_-_Abnormalities
FC01.5 Postradiation scoliosis FC01 Postprocedural disorders of the musculoskeletal system
Scoliosis is known not to be limited only to the frontal plane, and can be defined as a three dimensional torsional deformity of the spine and trunk it causes a lateral curvature in the frontal plane, an axial rotation in the horizontal one, and a disturbance of the sagittal plane normal curvatures, kyphosis and lordosis, usually, but not always, reducing them in direction of a flat back. “Structural scoliosis”, or just scoliosis, must be differentiated from “functional scoliosis”, that is a spinal curvature secondary to known extraspinal causes (e.g. shortening of a lower limb or paraspinal muscle tone asymmetry). It is usually partially reduced or completely subsides after the underlying cause is eliminated (e.g. in a recumbent position).
Q67 Congenital musculoskeletal deformities of head, face, spine and chest - Q67.5 Congenital deformity of spine Congenital scoliosis: NOS postural Excl.: infantile idiopathic scoliosis (M41.0) scoliosis due to congenital bony malformation (Q76.3)
- Q65.0 Congenital dislocation of hip, unilateral
- Q65.1 Congenital dislocation of hip, bilateral
- Q65.2 Congenital dislocation of hip, unspecified
- Q65.3 Congenital subluxation of hip, unilateral
- Q65.4 Congenital subluxation of hip, bilateral
- Q65.5 Congenital subluxation of hip, unspecified
- Q65.6 Unstable hip Dislocatable hip Subluxatable hip
- Q65.8 Other congenital deformities of hip Anteversion of femoral neck Congenital acetabular dysplasia Congenital coxa: valga vara
- Q65.9 Congenital deformity of hip, unspecified
Quality of Life in Males and Females With Idiopathic Scoliosis
Spine (Phila Pa 1976). 2019 Mar 15;44(6):404-410. doi: 10.1097/BRS.0000000000002857.
Diarbakerli E1,2, Grauers A1,3, Danielsson A4,5, Abbott A6, Gerdhem P1,2. Author information Abstract STUDY DESIGN: Cross-sectional. OBJECTIVE: To describe quality of life in males and females with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is a three-dimensional deformity affecting the growing spine. The prevalence of larger curves, requiring treatment, is higher in females. METHODS: This cross-sectional study comprised 1519 individuals with idiopathic scoliosis (211 males) with a mean (SD) age of 35.3 (14.9) years. They all answered the Scoliosis Research Society 22 revised (SRS-22r) questionnaire and EuroQol 5-dimension-index (EQ-5D). Five hundred twenty eight were surgically treated (78 males), 535 were brace treated (50 males), and 456 were untreated (83 males). The SRS-22r subscore (excluding the satisfaction domain), the SRS-22r domains and the EQ-5D index score were calculated. Subgroup analyses based on treatment and age were performed. Statistical comparisons were performed using analysis of covariance with adjustments for age and treatment. A P-value less than 0.05 was considered as statistical significant. RESULTS: The mean (SD) SRS-22r subscore was 4.19 (0.61) in males and 4.05 (0.61) in females (P = 0.010). The males had higher scores on the SRS-22r domains function (4.56 vs. 4.42), pain (4.20 vs. 4.00), and mental health (4.14 vs. 3.92) (all P < 0.05). The mean (SD) EQ-5D index score was 0.85 (0.22) for males and 0.81 (0.21) for females (P = 0.10). There were minor differences when comparing males and females in treatment and age groups, but both treated and untreated groups had reduced quality of life compared with the national norms. CONCLUSION: When compared with females, males with idiopathic scoliosis tend to have slightly higher scores in the scoliosis specific SRS-22r but not in the generic quality of life measurement EQ-5D. Quality of life is overall similar between males and females in treatment and age groups, but reduced in comparison with the general population. LEVEL OF EVIDENCE: 3. PMID: 30180148 DOI: 10.1097/BRS.0000000000002857
Quantitative Characteristics of Consecutive Lengthening Episodes in Early-onset Scoliosis (EOS) Patients With Dual Growth Rods
Spine (Phila Pa 1976). 2019 Mar 15;44(6):397-403. doi: 10.1097/BRS.0000000000002835.
Agarwal A1, Goswami A2, Vijayaraghavan GP2, Srivastava A2, Kandwal P3, Nagaraja UB4, Goel VK1, Agarwal AK1, Jayaswal A2. Author information Abstract STUDY DESIGN: A prospective single-center study. OBJECTIVE: The aim of this study was to record the characteristic forces and lengths observed during distraction episodes in early-onset scoliosis (EOS), and analyze their interdependencies on the key variability among the patients. SUMMARY OF BACKGROUND DATA: The goal of the growing-rod technique is to achieve deformity correction alongside maintaining growth of the spine. The deformity correction is achieved during the initial surgery, but follow-up distraction episodes are necessary to maintain the growth. The key variables, under the control of a surgeon, that affect the growth are the applied distraction forces and the distraction lengths. Since the advent of dual growth rod technique, there have been many studies exploring the relationship between these and the actual growth. However, there is sparse evidence on the actual magnitude of distraction forces, and none on its association with patient's parameters such as sex, age, and deformity. METHODS: In a consecutive series of 47 patients implanted with dual growth rods, the distraction forces (in N) and the lengths (in mm) achieved during each distraction episode and compared against the episode-specific demographics. The values obtained from each side, that is, concave and convex sides, were averaged to calculate the mean. Statistical analysis was performed using t-distribution because for each normalized time points (distraction episode). RESULTS: In cumulative, the distraction force increased by an amount of 268%, with 120% increase in the early stages (distractions episodes 1-6) and 68% increase in the later stages (distractions episodes 6-11), whereas the cumulative decrease in the length over 11 distractions episodes was 47%, with 34% and 20% in the early and later stages, respectively. The study does not identify any significant trend with respect to sex, age, and deformity. CONCLUSION: The distraction force and the length increased and decreased respectively with every consecutive distraction episode, with no correlation to sex, age, extent of deformity, or the extent of correction. LEVEL OF EVIDENCE: 5. PMID: 30095792 DOI: 10.1097/BRS.0000000000002835
Specific exercises reduce the need for bracing in adolescents with idiopathic scoliosis: A practical clinical trial
Ann Phys Rehabil Med. 2019 Mar;62(2):69-76. doi: 10.1016/j.rehab.2018.07.010. Epub 2018 Aug 24.
Negrini S1, Donzelli S2, Negrini A2, Parzini S2, Romano M2, Zaina F2. Author information Abstract BACKGROUND: In an ideal experimental setting, 2 randomized controlled trials recently showed the efficacy of physiotherapeutic scoliosis-specific exercises (PSSEs) for adolescents with idiopathic scoliosis (AIS). Now large observational studies are needed to check the generalizability of these results to everyday clinical life. OBJECTIVE: To explore the effectiveness of PSSEs for avoiding bracing or progression of AIS in everyday clinics. METHODS: This was a longitudinal comparative observational multicenter study, nested in a prospective database of outpatient tertiary referral clinics, including 327 consecutive patients. Inclusion criteria were AIS, age≥10 years old at first evaluation, Risser sign 0-2, and 11-20°Cobbangle. Exclusion criteria were consultations only and brace prescription at baseline. Groups performed PSSE according to the SEAS (Scientific Exercise Approach to Scoliosis) School, usual physiotherapy (UP) and no therapy (controls [CON]). End of treatment was medical discharge, Risser sign 3, or failure (defined by the need for bracing before the end of growth or Cobb angle>29°). The probability of failure was estimated by the risk ratio (RR) and 95% confidence interval (CI). The number needed to treat was estimated. Statistical analysis included intent-to-treat analysis, considering all participants (dropouts as failures), and efficacy analysis, considering only end-of-treatment participants. Propensity scores were used to reduce the potential effects of confounders related to the observational design. RESULTS: We included 293 eligible subjects after propensity score matching (SEAS, n=145; UP, n=95; controls, n=53). The risk of success was increased 1.7-fold (P=0.007) and 1.5-fold (P=0.006) with SEAS versus controls in the efficacy and intent-to-treat analyses, respectively, and the number needed to treat for testing SEAS versus controls was 3.5 (95% CI 3.2-3.7) and 1.8 (95% CI 1.5-2.0), respectively. The success rate was higher with SEAS than UP in the efficacy analysis. CONCLUSIONS: SEAS reduced the bracing rate in AIS and was more effective than UP. PSSEs are additional tools that can be included in the therapeutic toolbox for AIS treatment. Copyright © 2018 Elsevier Masson SAS. All rights reserved. KEYWORDS: Adolescents; Exercise; Scoliosis PMID: 30145241 DOI: 10.1016/j.rehab.2018.07.010
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
The incidence of common orthopaedic problems in newborn at Siriraj Hospital
J Med Assoc Thai. 2012 Sep;95 Suppl 9:S54-61.
Chotigavanichaya C, Leurmsumran P, Eamsobhana P, Sanpakit S, Kaewpornsawan K. Source Department of Orthopaedic Surgery, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. firstname.lastname@example.org
BACKGROUND: The congenital orthopaedic anomalies in Thai population had a limited data and the previously studies are based on only hospital chart records. OBJECTIVE: To determine the incidence of common congenital orthopedic problems by physical examination in newborn at Siriraj Hospital. MATERIAL AND METHOD: A prospective study was conducted by physical examination of 3,396 newborns from June 2009 to September 2009. All orthopaedic abnormalities of newborns were recorded along with maternal age, obstetric history of mother, complications during pregnancy, complications in labour stage, mode of delivery and presentation. Sex of newborn, birth weight, body length and APGAR score were recorded. RESULTS: Incidence of calcaneovalgus was found in 60:1,000 live births following by metatarsus adductus in 7.6:1,000, polydactyly or syndactyly in 2.6:1,000, talipes equninovarus in 2.4:1,000, brachial plexus injury in 1.5:1,000, developmental dysplasia of hip in 0.6:1,000, osteogenesis imperfecta in 0.6:1,000, skeketal dysplasia in 0.6:1,000, congenital vertical talus in 0.3: 1,000 and fracture clavicle at birth in 0.3: 1,000. CONCLUSION: In the present study, the calcaneovalgus was the most common orthopaedic problem followed by metatasus adductus, polydactyly or syndactyly.
Reproducibility of different screening classifications in ultrasonography of the newborn hip
BMC Pediatr. 2010 Dec 24;10:98. doi: 10.1186/1471-2431-10-98.
Peterlein CD, Schüttler KF, Lakemeier S, Timmesfeld N, Görg C, Fuchs-Winkelmann S, Schofer MD. Source Department of Orthopaedics and Rheumatology, University Hospital Giessen and Marburg, Marburg, Germany. email@example.com
BACKGROUND: Ultrasonography of the hip has gained wide acceptance as a primary method for diagnosis, screening and treatment monitoring of developmental hip dysplasia in infants. The aim of the study was to examine the degree of concordance of two objective classifications of hip morphology and subjective parameters by three investigators with different levels of experience. METHODS: In 207 consecutive newborns (101 boys; 106 girls) the following parameters were assessed: bony roof angle (α-angle) and cartilage roof angle (β-angle) according to Graf's basic standard method, "femoral head coverage" (FHC) as described by Terjesen, shape of the bony roof and position of the cartilaginous roof. Both hips were measured twice by each investigator with a 7.5 MHz linear transducer (SONOLINE G60S® ultrasound system, SIEMENS, Erlangen, Germany). RESULTS: Mean kappa-coefficients for the subjective parameters shape of the bony roof (0.97) and position of the cartilaginous roof (1.0) demonstrated high intra-observer reproducibility. Best results were achieved for α-angle, followed by β-angle and finally FHC. With respect to limits of agreement, inter-observer reproducibility was calculated less precisely. CONCLUSIONS: Higher measurement differences were evaluated more in objective scorings. Those variations were observed by every investigator irrespective of level of experience.
Clinical examination versus ultrasonography in detecting developmental dysplasia of the hip
Int Orthop. 2008 Jun;32(3):415-9. Epub 2007 Mar 1.
Dogruel H, Atalar H, Yavuz OY, Sayli U. Source Department of Orthopaedic Surgery, Güven Hospital, Ankara, Turkey. firstname.lastname@example.org Abstract Although hip ultrasonography is gaining acceptance as the most effective method for the early diagnosis of developmental dysplasia of the hip, there is still some controversy regarding the use of ultrasonography as a screening method. The purpose of this study was to investigate prospectively the capacity of clinical examination findings and associated risk factors to detect developmental dysplasia of the hip defined ultrasonographically in infants. A total of 3,541 infants underwent clinical examination and hip ultrasonography. Measured against ultrasonography as a standard, the sensitivity and specificity of clinical examination were 97% and 13.68%, respectively. Graf type IIb or more severe developmental dysplasia was found in 167 infants (208 hips), at an overall frequency of 4.71%. Graf type IIa physiological immaturity was encountered in 838 hips, and of these, 15 hips (1.78%) developed Graf type IIb dysplasia and underwent treatment. Patient characteristics that were found to be significant risk factors were swaddling use, female gender, breech delivery and positive family history. Given its low specificity, our findings suggest that clinical examination does not reliably detect ultrasonographically defined developmental dysplasia of the hip in infants being screened for this disease. Comment in Comment on: Clinical examination versus ultrasonography in detecting developmental dysplasia of the hip. [Int Orthop. 2009]
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
Structure. 2000 May 15;8(5):481-91.
Norwood FL, Sutherland-Smith AJ, Keep NH, Kendrick-Jones J.
SourceStructural Studies Division, Medical Research Council Laboratory of Molecular Biology, Cambridge, CB2 2QH, UK.
BACKGROUND:Dystrophin is an essential component of skeletal muscle cells. Its N-terminal domain binds to F-actin and its C terminus binds to the dystrophin-associated glycoprotein (DAG) complex in the membrane. Dystrophin is therefore thought to serve as a link from the actin-based cytoskeleton of the muscle cell through the plasma membrane to the extracellular matrix. Pathogenic mutations in dystrophin result in Duchenne or Becker muscular dystrophy.RESULTS:The crystal structure of the dystrophin actin-binding domain (ABD) has been determined at 2.6 A resolution. The structure is an antiparallel dimer of two ABDs each comprising two calponin homology domains (CH1 and CH2) that are linked by a central alpha helix. The CH domains are both alpha-helical globular folds. Comparisons with the structures of utrophin and fimbrin ABDs reveal that the conformations of the individual CH domains are very similar to those of dystrophin but that the arrangement of the two CH domains within the ABD is altered. The dystrophin dimer reveals a change of 72 degrees in the orientation of one pair of CH1 and CH2 domains (from different monomers) relative to the other pair when compared with the utrophin dimer. The dystrophin monomer is more elongated than the fimbrin ABD.CONCLUSIONS:The dystrophin ABD structure reveals a previously uncharacterised arrangement of the CH domains within the ABD. This observation has implications for the mechanism of actin binding by dystrophin and related proteins. Examining the position of three pathogenic missense mutations within the structure suggests that they exert their effects through misfolding of the ABD, rather than through disruption of the binding to F-actin.
Developmental Dysplasia of the Hip
The effect of functional splinting on mild dysplastic hips after walking onset
BMC Pediatr. 2005 Jun 15;5(1):17.
CONCLUSION: Considering the characteristics of this study, there seems to be no strong rationale supporting the use of an abduction device in growing children. As no significant difference between treatment groups is apparent, a future controlled prospective study on splinting effects can be considered ethically allowed.
Implementation by simulation; strategies for ultrasound screening for hip dysplasia in the Netherlands
Assessing subgroup effects with binary data: can the use of different effect measures lead to different conclusions?
Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its development
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