scholarly journals Orthopaedic manifestations of pseudoachondroplasia

2019 ◽  
Vol 13 (4) ◽  
pp. 409-416 ◽  
Author(s):  
D. S. Weiner ◽  
J. Guirguis ◽  
M. Makowski ◽  
S. Testa ◽  
L. Shauver ◽  
...  
Keyword(s):  
Matrix Protein ◽  
Protein Gene ◽  
Lumbar Vertebrae ◽  
Gene Mutations ◽  
Axial Skeleton ◽  
Long Bones ◽  
Age Group ◽  
Level Of Evidence ◽  
Vertebral Bodies ◽  
Comp Gene

Purpose In 1959, Maroteaux and Lamy initially designated pseudoachondroplasia as a distinct dysplasia different from achondroplasia the most common form of skeletal dysplasia. Pseudoachondroplasia is caused by a mutation in the collagen oligomeric matrix protein gene (COMP) gene on chromosome 19p13.1-p12 encoding the COMP. The COMP gene mutations result in rendering the articular and growth plate cartilages incapable of withstanding routine biomechanical loads with resultant deformity of the joints. The purpose of the study was to characterize the typical orthopaedic findings in pseudoachondroplasia. Methods The charts and radiographs of 141 patients with pseudoachondroplasia were analyzed. This cohort, to our knowledge, represents the largest group of patients describing the typical orthopaedic manifestations of pseudoachondroplasia. Results Patients with pseudoachondroplasia have normal craniofacial appearance with normal intelligence. Short stature is not present at birth and generally appears by two to four years of age. The condition is a form of spondyloepiphyseal dysplasia and the long bones are characterized by dysplastic changes in the epiphysis, metaphysis and vertebral bodies. Radiographically the long bones have altered the appearance and structure of the epiphyses with small irregularly formed or fragmented epiphyses or flattening. The metaphyseal regions of the long bones show flaring, widening or ‘trumpeting’. The cervical (89%) and thoracic and lumbar vertebrae show either platyspondyly, ovoid, ‘cod-fish’ deformity or anterior ‘beaking’. Kyphosis (28%), scoliosis (58%) and lumbar lordosis (100%) are commonly seen. The femoral head and acetabulum are severely dysplastic (100%). The knees show either genu valgum (22%), genu varum (56%) or ‘windswept’ deformity (22%). Conclusion Most commonly these distortions of the appendicular and the axial skeleton lead to premature arthritis particularly of the hips and often the knees not uncommonly in the 20- to 30-year-old age group. Level of Evidence: III

The Axial Skeletons of Sunghir 1, 2, and 3

2014 ◽  
Author(s):  
Erik Trinkaus ◽  
Alexandra P. Buzhilova ◽  
Maria B. Mednikova ◽  
Maria V. Dobrovolskaya
Keyword(s):  
Radiocarbon Dating ◽  
Cervical Vertebrae ◽  
Costal Cartilage ◽  
Lumbar Vertebrae ◽  
Axial Skeleton ◽  
Age At Death ◽  
Vertebral Bodies ◽  
Length Scaling

Given their burial positions, on their backs with the trunks and limbs extended, the Sunghir 1 to 3 individuals should have retained major portions of their axial skeletons. This is the case for Sunghir 2 and 3, both of whom retain all of the cervical vertebrae, most of their thoracic and lumbar vertebrae, and major portions of their sacra. Sunghir 2 preserves portions of 23 of the 24 ribs, and Sunghir 3 retains at least a small piece of each of her 24 ribs. Moreover her left fifth and sixth ribs lack only their costal cartilage surfaces. Only Sunghir 3 preserves any elements of the sternum, two partial and separated sternebral segments. In contrast, despite the apparent presence of major portions of the axial skeleton in situ, little remains of the Sunghir 1 vertebrae, ribs, or sternum. The cervical vertebrae are absent, unless pieces of them are mixed with the collection of what appear to be thoracic and lumbar fragments. Only two vertebrae remain reasonably intact, the T1 and T2. There are eight pieces of vertebral bodies, one of which has a pathological growth (chapter 17). The ribs consist of small pieces, except for a largely intact left first rib. Although evident in the in situ photographs, nothing remains of the manubrium. There is also a piece of distal middle rib, which is of use for the age-at-death assessment. Some of the vertebral and rib pieces have been sacrificed over the years for direct radiocarbon dating (e.g., Kuzmin et al. 2004). Others pieces, heavily fissured and hence probably descending into fragments during excavation, were only partially retained. There are nonetheless a few aspects of the Sunghir axial skeletons, beyond age assessments (chapter 6), the pathological lesions on the Sunghir 1 vertebrae (chapter 17), use of the sacra in the pelves (chapter 14), and body length scaling for Sunghir 2 and 3 (chapter 11), that are of interest.

scholarly journals Chondrosarcoma-A Multi-Faceted Entity

2020 ◽  
Vol 3 (1) ◽  
Keyword(s):  
Cervical Spine ◽  
Clear Cell ◽  
Malignant Tumors ◽  
Axial Skeleton ◽  
The Body ◽  
Long Bones ◽  
Age Group ◽  
Tumors Of Bone ◽  
Small Bones ◽  
Group 1

Chondrosarcoma (CS) accounts for 20-27% of all primary malignant tumors of bone mostly seen in older age group [1]. It may be primary or secondary occurring in 2nd to 5th decade. The long bones especially the metaphysis are the most common sites. Axial skeleton, skull, jaw, small bones of hand and feet are other sites that can be involved. Though rare, extraskeletal CS may occur anywhere in the body. The conventional CS are primary or secondary. Primary chondrosarcoma may be intramedullary or Juxtacortical. Secondary CS arises from Osteochondroma or Enchondroma. Nonconventional CS are clear cell, myxoid, mesenchymal, extraskeletal, and dedifferentiated. Usual distribution of these tumors is long bones (45%) or pelvis (25%). The spine (7%), scapula (5%), cervical spine (6-7%), craniofacial bones (2%), hand and foot are rarely affected [2].

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations

2016 ◽  
Vol 29 (2) ◽  
Author(s):  
Kosei Hasegawa ◽  
Hiroyuki Tanaka ◽  
Yousuke Higuchi ◽  
Miho Yamashita ◽  
Hirokazu Tsukahara
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Postnatal Growth ◽  
Facial Appearance ◽  
Long Bones ◽  
Syndrome Patient ◽  
Radiological Features ◽  
Vertebral Bodies ◽  
Cullin 7 ◽  
Growth Disorder

Abstract3-M syndrome (OMIM #273750, #612921, and #614205) is a rare autosomal recessive growth disorder that is characterized by pre- and postnatal growth retardation, normal intelligence, and characteristic faces. This syndrome also has characteristic radiological features, such as slender long bones and tall vertebral bodies. Three genes, cullin 7 (

Prevalence and phenotypic spectrum of cholesteryl ester transfer protein gene mutations in Japanese hyperalphalipoproteinemia

2003 ◽  
Vol 166 (1) ◽  
pp. 177-185 ◽  
Author(s):  
Takao Maruyama ◽  
Naohiko Sakai ◽  
Masato Ishigami ◽  
Ken-ichi Hirano ◽  
Takeshi Arai ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Cholesteryl Ester Transfer Protein ◽  
Protein Gene ◽  
Gene Mutations ◽  
Transfer Protein ◽  
Phenotypic Spectrum

scholarly journals Differences in Radiation Exposure of CT-Guided Percutaneous Manual and Powered Drill Bone Biopsy

2021 ◽  
Author(s):  
Sebastian Zensen ◽  
Sumitha Selvaretnam ◽  
Marcel Opitz ◽  
Denise Bos ◽  
Johannes Haubold ◽  
...  
Keyword(s):  
Radiation Exposure ◽  
Diagnostic Yield ◽  
Bone Biopsy ◽  
Lumbar Vertebrae ◽  
Bone Lesions ◽  
Anatomical Location ◽  
Thoracic Vertebrae ◽  
Level Of Evidence ◽  
Ct Guided ◽  
Bone Biopsies

Abstract Purpose Apart from the commonly applied manual needle biopsy, CT-guided percutaneous biopsies of bone lesions can be performed with battery-powered drill biopsy systems. Due to assumably different radiation doses and procedural durations, the aim of this study is to examine radiation exposure and establish local diagnostic reference levels (DRLs) of CT-guided bone biopsies of different anatomical regions. Methods In this retrospective study, dose data of 187 patients who underwent CT-guided bone biopsy with a manual or powered drill biopsy system performed at one of three different multi-slice CT were analyzed. Between January 2012 and November 2019, a total of 27 femur (A), 74 ilium (B), 27 sacrum (C), 28 thoracic vertebrae (D) and 31 lumbar vertebrae (E) biopsies were included. Radiation exposure was reported for volume-weighted CT dose index (CTDIvol) and dose–length product (DLP). Results CTDIvol and DLP of manual versus powered drill biopsy were (median, IQR): A: 56.9(41.4–128.5)/66.7(37.6–76.2)mGy, 410(203–683)/303(128–403)mGy·cm, B: 83.5(62.1–128.5)/59.4(46.2–79.8)mGy, 489(322–472)/400(329–695)mGy·cm, C: 97.5(71.6–149.2)/63.1(49.1–83.7)mGy, 627(496–740)/404(316–515)mGy·cm, D: 67.0(40.3–86.6)/39.7(29.9–89.0)mGy, 392(267–596)/207(166–402)mGy·cm and E: 100.1(66.5–162.6)/62.5(48.0–90.0)mGy, 521(385–619)/315(240–452)mGy·cm. Radiation exposure with powered drill was significantly lower for ilium and sacrum, while procedural duration was not increased for any anatomical location. Local DRLs could be depicted as follows (CTDIvol/DLP): A: 91 mGy/522 mGy·cm, B: 90 mGy/530 mGy·cm, C: 116 mGy/740 mGy·cm, D: 87 mGy/578 mGy·cm and E: 115 mGy/546 mGy·cm. The diagnostic yield was 82.4% for manual and 89.4% for powered drill biopsies. Conclusion Use of powered drill bone biopsy systems for CT-guided percutaneous bone biopsies can significantly reduce the radiation burden compared to manual biopsy for specific anatomical locations such as ilium and sacrum and does not increase radiation dose or procedural duration for any of the investigated locations. Level of Evidence Level 3.

scholarly journals Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

2010 ◽  
Vol 3 (4) ◽  
pp. 314-322 ◽  
Author(s):  
Perry Elliott ◽  
Constantinos O'Mahony ◽  
Petros Syrris ◽  
Alison Evans ◽  
Christina Rivera Sorensen ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Desmosomal Protein

Gout in the Axial Skeleton

2009 ◽  
Vol 36 (3) ◽  
pp. 609-613 ◽  
Author(s):  
RUKMINI M. KONATALAPALLI ◽  
PAUL J. DEMARCO ◽  
JAMES S. JELINEK ◽  
MARK MURPHEY ◽  
MICHAEL GIBSON ◽  
...  
Keyword(s):  
Facet Joint ◽  
Case Reports ◽  
Case Series ◽  
Lumbar Vertebrae ◽  
Axial Skeleton ◽  
Ct Images ◽  
Common Finding ◽  
Appendicular Skeleton ◽  
Pars Interarticularis ◽  
A Prospective Study

Objective.Gout typically affects the peripheral joints of the appendicular skeleton and rarely involves the axial joints. The literature on axial gout is limited to case reports and case series. This preliminary study was conducted to identify the frequency and characteristics of axial gout.Methods.Six hundred thirty medical records with ICD codes 274.0, 274.82, and 274.9 for peripheral gout were reviewed. Ninety-two patients had clinical or crystal-proven gout, of which 64 had prior computed tomography (CT) images of the spine performed for various medical reasons. These CT images were reviewed for features of axial gout, which include vertebral erosions mainly at the discovertebral junction and the facet joints, deposits of tophi, and erosions in the vertebral body, epidural space, ligamentum flavum and pars interarticularis.Results.Nine of the 64 patients had radiographic changes suggestive of axial gout. Lumbar vertebrae were most commonly involved, with facet joint erosions being the most common finding. Isolated involvement of the sacroiliac joints was seen in 2 patients. Axial gout had been diagnosed clinically in only one patient.Conclusion.Radiologic changes of axial gout were more common than recognized clinically, with a frequency of 14%. Since not all patients had CT images, it is possible that the frequency of axial involvement was even greater. A prospective study is needed to further define this process.

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