Difference between revisions of "Talk:Musculoskeletal System - Abnormalities"

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http://www.cell.com/ajhg/fulltext/S0002-9297(17)30019-8
 
==2012==
 
==2012==
  

Revision as of 14:13, 13 February 2017

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Cite this page: Hill, M.A. (2019, December 15) Embryology Musculoskeletal System - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Musculoskeletal_System_-_Abnormalities

10 Most Recent

Note - This sub-heading shows an automated computer PubMed search using the listed sub-heading term. References appear in this list based upon the date of the actual page viewing. Therefore the list of references do not reflect any editorial selection of material based on content or relevance. In comparison, references listed on the content page and discussion page (under the publication year sub-headings) do include editorial selection based upon relevance and availability. (More? Pubmed Most Recent)

Hip Displasia

<pubmed limit=5>Hip Displasia</pubmed>

Scoliosis

<pubmed limit=5>Scoliosis</pubmed>

Duchenne Muscular Dystrophy

<pubmed limit=5>Duchenne Muscular Dystrophy</pubmed>

Muscular Dystrophy

<pubmed limit=5>Muscular Dystrophy</pubmed>

Calcaneovalgus

<pubmed limit=5>Calcaneovalgus</pubmed>


2017

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

http://www.cell.com/ajhg/fulltext/S0002-9297(17)30019-8

2012

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. siccg@mahidol.ac.th

Abstract

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.

PMID 23326983

2010

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. peterlei@med.uni-marburg.de

Abstract

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.

PMID 21184670

http://www.biomedcentral.com/1471-2431/10/98

2008

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. drdogruel@yahoo.com 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]

PMID 17333184

2000

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.

Abstract

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.

PMID 10801490

Old Links

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.

PMID 15958160

Implementation by simulation; strategies for ultrasound screening for hip dysplasia in the Netherlands

http://www.biomedcentral.com/1472-6963/10/75

http://www.biomedcentral.com/content/pdf/1472-6963-10-75.pdf

Assessing subgroup effects with binary data: can the use of different effect measures lead to different conclusions?

http://www.biomedcentral.com/content/pdf/1471-2288-5-15.pdf


scoliosis

Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its development

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2596087/


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24: Ceylaner G, Ceylaner S, Ustünkan F, Inan M. [Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family]. Acta Orthop Traumatol Turc. 2008 Aug-Oct;42(4):289-91. Turkish. PubMed PMID: 19060525.


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26: Hvid I. Neonatal hip instability, developmental dysplasia of the acetabulum, and the risk of early osteoarthrosis. Acta Orthop. 2008 Jun;79(3):311-2. PubMed PMID: 18622832.


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32: Kotnis R, Spiteri V, Little C, Theologis T, Wainwright A, Benson MK. Hip arthrography in the assessment of children with developmental dysplasia of the hip and Perthes' disease. J Pediatr Orthop B. 2008 May;17(3):114-9. PubMed PMID: 18391807.


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63: Inan M. [Current approaches to the treatment of developmental dysplasia of the hip]. Acta Orthop Traumatol Turc. 2007;41 Suppl 1:68-73. Review. Turkish. PubMed PMID: 17483626.


64: Tümer Y, Ağuş H, Biçimoğlu A. [When should secondary procedures be performed in residual hip dysplasia?]. Acta Orthop Traumatol Turc. 2007;41 Suppl 1:60-7. Review. Turkish. PubMed PMID: 17483625.


65: Aksoy MC. [Closed reduction in the treatment of developmental dysplasia of the hip]. Acta Orthop Traumatol Turc. 2007;41 Suppl 1:25-30. Review. Turkish. PubMed PMID: 17483620.


66: Graf R. [The use of ultrasonography in developmental dysplasia of the hip]. Acta Orthop Traumatol Turc. 2007;41 Suppl 1:6-13. Review. Turkish. PubMed PMID: 17483617.


67: Todorov S, Asparukhov A, Velkova A. [Early diagnosis of hip joint dysplasia in neonatal age--clinical or ultrasound methods]. Akush Ginekol (Sofiia). 2007;46 Suppl 1:46-9. Bulgarian. PubMed PMID: 18173013.


68: Kokavec M, Bialik V. Developmental dysplasia of the hip. Prevention and real incidence. Bratisl Lek Listy. 2007;108(6):251-4. PubMed PMID: 17972535.


69: Lipton GE, Guille JT, Altiok H, Bowen JR, Harcke HT. A reappraisal of the Ortolani examination in children with developmental dysplasia of the hip. J Pediatr Orthop. 2007 Jan-Feb;27(1):27-31. PubMed PMID: 17195793.


70: Desprechins B, Ernst C, de Mey J. Screening for developmental dysplasia of the hip. JBR-BTR. 2007 Jan-Feb;90(1):4-5. PubMed PMID: 17405613.


71: Storer SK, Skaggs DL. Developmental dysplasia of the hip. Am Fam Physician. 2006 Oct 15;74(8):1310-6. Review. PubMed PMID: 17087424.


72: Yawn BP, Mabry IR, Ko S. Ultrasonography in the assessment of developmental dysplasia of the hip. Am Fam Physician. 2006 Oct 15;74(8):1284-5. PubMed PMID: 17087422.


73: Pap K, Kiss S, Shisha T, Marton-Szücs G, Szöke G. The incidence of avascular necrosis of the healthy, contralateral femoral head at the end of the use of Pavlik harness in unilateral hip dysplasia. Int Orthop. 2006 Oct;30(5):348-51. Epub 2006 Apr 26. Erratum in: Int Orthop. 2006 Oct;30(5):352. PubMed PMID: 16639593.


74: Mabry IR, Luckhaupt S. Screening for developmental dysplasia of the hip. (Quiz 1005-6). Am Fam Physician. 2006 Sep 15;74(6):1005-6. PubMed PMID: 17002037.


75: Arumilli BR, Koneru P, Garg NK, Davies R, Saville S, Sampath J, Bruce C. Is secondary radiological follow-up of infants with a family history of developmental dysplasia of the hip necessary? J Bone Joint Surg Br. 2006 Sep;88(9):1224-7. PubMed PMID: 16943477.


76: Spyropoulou AC, Zervas IM, Soldatos CR. Hip dysplasia following a case of olanzapine exposed pregnancy: a questionable association. Arch Womens Ment Health. 2006 Jul;9(4):219-22. Epub 2006 Jun 8. PubMed PMID: 16755330.


77: Uras I, Yavuz OY, Kose KC, Atalar H, Uras N, Karadag A. Radiographic artifact mimicking epiphysis of the femoral head in a seven-month-old girl. J Natl Med Assoc. 2006 Jul;98(7):1181-2. PubMed PMID: 16895292; PubMed Central PMCID: PMC2569463.


78: Ghanem I, Mégarbané A. Aplasia of the pubic bone in conjunction with hip dislocation. J Pediatr Orthop B. 2006 Jul;15(4):309; author reply 309-10. PubMed PMID: 16751746.


79: Carney BT, Vanek EA. Incidence of hip dysplasia in idiopathic clubfoot. J Surg Orthop Adv. 2006 Summer;15(2):71-3. PubMed PMID: 16919196.


80: U.S. Preventive Service Task Force. Screening for developmental dysplasia of the hip: recommendation statement. Am Fam Physician. 2006 Jun 1;73(11):1992-6. Review. PubMed PMID: 16770931.


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