PubMed Health⌕ Search

Biomedical subjects

J G Edelson

Publications and source records attributed to J G Edelson.

At least 19 recordsLinked to original sources
PubMed1999

Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.

Pycnodysostosis (Pycno) is an autosomal recessive osteosclerotic skeletal dysplasia that is caused by the markedly deficient activity of cathepsin K. This lysosomal cysteine protease has substantial collagenase activity, is present at high levels in osteoclasts, and is secreted into the subosteoclastic space where bone matrix is degraded. In vitro studies revealed that mutant cathepsin K proteins causing Pycno did not degrade type I collagen, the protein that constitutes 95% of organic bone matrix. To determine the in vivo effects of cathepsin K mutations on bone metabolism in general and osteoclast-mediated bone resorption specifically, several bone metabolism markers were assayed in serum and urine from seven Pycno patients. Two markers of bone synthesis, type I collagen carboxy-terminal propeptide and osteocalcin, were normal in all Pycno patients. Tartrate-resistent acid phosphatase, an osteoclast marker, was also normal in these patients. Two markers that detect type I collagen telopeptide cross-links from the N and C termini, NTX and CTX, respectively, were low in Pycno. A third marker which detects a more proximal portion of the C terminus of type I collagen in serum, ICTP, was elevated in Pycno, a seemingly paradoxical result. The finding of decreased osteoclast-mediated type I collagen degradation as well as the use of alternative collagen cleavage sites by other proteases, and the accumulation of larger C-terminal fragments containing the ICTP epitope, established a unique biochemical phenotype for Pycno.

Acid Phosphatase↗
PubMed1996

Variations in the anatomy of the scapula with reference to the snapping scapula.

Two clinical cases led to an examination of 700 scapular dry bone specimens in an effort to understand variations in anatomy of possible relevance to the development of a painful snapping scapula. The medial superior border and the inferior pole of the scapula respectively displayed areas of bony variability that appeared to be of clinical consequence in these 2 cases. The 2 areas are common sites of clinical symptomatology in the painful snapping scapula. Variations in the bony anatomy require consideration during the workup and evaluation of this condition.

Adult↗
PubMed1996

Patterns of degenerative change in the acromioclavicular joint.

A distinctive and consistent pattern of degenerative change was seen in 560 acromioclavicular joints from dry bone skeletons of subjects over 40 years of age. An appreciation of this characteristic configuration is helpful at operation or when introducing a needle into the joint.

Acromioclavicular Joint↗
PubMed1995

Aspects of coracoacromial ligament anatomy of interest to the arthroscopic surgeon.

Examination was performed on 100 cadaveric specimens to demonstrate the anatomy of the coracoacromial (C-A) ligament. In a substantial number (34 specimens), the bipartite nature of the ligament and the breadth of its insertions were considerably more pronounced than usually perceived through the arthroscope. Supplementing the cadaveric material, 300 dry bone scapulae were examined from museum specimens of older persons. These demonstrated various degrees of transformation of the C-A ligament into bone (enthesopathy) at its acromial insertion. Variations in the patterns of these enthesopathic transformations corresponded to variations in the patterns seen in the cadaveric material. This variability is of practical importance in a variety of operative procedures. Additionally, the relationship between the acromial insertion of the C-A ligament and the overlying deltoid muscle was examined. An understanding of this relationship is crucial in avoiding complications when operating in this area.

Acromion↗
PubMed1995

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping.

Pycnodysostosis is an autosomal recessive sclerosing skeletal dysplasia of unknown aetiology which is inherited with complete penetrance. The clinical features, fully delineated in 1962 by Maroteaux & Lamy and by Andrén et al., include osteosclerosis, acro-osteolysis of the distal phalanges, bone fragility, clavicular dysplasia, reduced stature and skull deformities with delayed suture closure. Although rare, pycnodysostosis has attained prominence because the French artist Henri de Toulouse-Lautrec was retrospectively diagnosed as having been affected with this disorder. For rare autosomal recessive traits, homozygosity mapping provides a powerful approach to disease gene mapping. We have now used this approach to map the locus for pycnodysostosis. Following a genome-wide search in a large Arab family with 16 affected relatives, we established linkage to a narrow region on chromosome 1q21, with a maximal lod score of 11.72. A single marker, D1S498, was homozygous-by-descent in all affecteds and defined the gene locus to a region of 4 cM. Two candidate genes in the region--the interleukin-6 receptor gene (IL6R) and the myeloid cell leukaemia-1 gene (MCL1)--are involved in the differentiation of monocyte/macrophages into osteoclasts, the most likely site of the primary defect in pycnodysostosis.

Abnormalities, Multiple↗
PubMed1995

Localized glenoid hypoplasia. An anatomic variation of possible clinical significance.

Examinations were done on 1150 scapular bone specimens from museum collections. A localized hypoplasia of the posteroinferior glenoid was found in significant numbers (20%-35%) depending on the population group studied. Criteria were established for the identification of this variant in computed tomography and magnetic resonance studies. Localized hypoplasia of the posteroinferior glenoid was detected as an incidental finding in 54 (18%) of 300 such studies. Using these same imaging criteria in a prospective manner, 9 of 12 patients seen for voluntary multidirectional instability of the shoulder displayed a localized posteroinferior glenoid hypoplasia. This phenomenon also may add to the picture of extreme posterior glenoid wear that sometimes is seen in association with osteoarthritis of the shoulder.

Adolescent↗
PubMed1995

The 'hooked' acromion revisited.

Examination was made of 750 scapular dry bone specimens from museum collections and 80 cadaver shoulders. Hooking of the acromion was not found in subjects under the age of 30 years. The hooked configuration developed at later ages in an increasing proportion of subjects as a result of calcification of the acromial attachment of the coracoacromial ligament.

Acromion↗
PubMed1995

Patterns of degenerative change in the glenohumeral joint.

Examination was made of 486 skeletons of subjects over the age of 60 years to study patterns of degenerative change in the glenohumeral joint. Three distinct types were found. Useful clinical implications are drawn from these distinctions.

Aged↗
PubMed1993

Os acromiale: anatomy and surgical implications.

We examined 270 scapular bones and found an incidence of os acromiale of 8.2%. In most cases, the free fragment was approximately one-third of the overall length of the acromion, and included the acromioclavicular facet and the principal areas of attachment of the coracoacromial ligament. Two-thirds of the specimens showed a distinctive pattern of osteophytic lipping. Based on this study, we devised operative procedures for symptomatic patients, and operated upon seven, with good results in six.

Acromioclavicular Joint↗
PubMed1992

Anatomy of the coraco-acromial arch. Relation to degeneration of the acromion.

We examined 200 scapular bones for signs of degenerative changes in the coraco-acromial arch. The slope and length of the acromion and the height of the arch were found to be most closely associated with degenerative change. These anatomical features are not significantly altered by current techniques of subacromial decompression.

Acromion↗
PubMed1991

Pelvic support osteotomy in an unusual congenital dislocation of the hip. A 52-year follow-up study.

Structural changes in the anatomy of the soft tissues as a result of long-standing congenital dislocation of the hip (CDH) are seldom described in the literature. Similarly, the anatomy of a hip 52 years after a pelvic support osteotomy for CDH seems not to have been previously observed. A long-term follow-up autopsy study of bilateral pelvic support osteotomies performed in a 91-year-old autopsy subject showed unexpectedly flattened sciatic nerves.

Aged↗
PubMed1988

Needle tract infection. A case report.

When local anesthetic agents are injected through the integument of the body, surface microorganisms may be introduced into the underlying tissues. Pathogenic microorganisms of the oral cavity, for example, may be introduced by the injection needle into deeper tissue. A case of needle tract infection was documented and is presented in this article.

Adult↗
PubMed1988

Stages in the natural history of the vertebral end-plates.

Four hundred and fifty skeletons were examined, and age changes in the bony vertebral end-plates were grouped into six categories. The predominant patterns of each phase from infancy to senescence are presented. The formation of ridges and sulci that form peripherally are similar to those appearing in other epiphyses and may provide translational stability. When osteophytes appear with maturation, they are separated from the fused ring apophysis by a distinct sulcus.

Adolescent↗