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PubMed2000

Proteoglycans and pattern formation: sugar biochemistry meets developmental genetics.

While it has been long appreciated that sugar-modified proteins coat the cell surface, their functions are poorly understood. Here, I describe recent genetic studies that demonstrate that one class of sugar-modified proteins, cell-surface proteoglycans, play crucial roles in morphogenesis, growth regulation and tumor suppression. Mutations that affect individual proteoglycans or the enzymes required for glycosaminoglycan synthesis regulate Wingless and Decapentaplegic signaling in Drosophila, and body size in mice and humans. Compromising proteoglycan function is also associated with the development of Wilm's tumors and hereditary multiple exostoses. In this review, these biological findings are placed in the context of proteoglycan biochemistry and molecular function.

Animals↗

PubMed1992

Congenital spinal malformations.

When presented with an animal that has a congenital spinal malformation, the veterinarian needs to consider the clinical significance of the malformation, the possible presence of other anomalies--spinal and nonspinal, the heritability of the malformation, and potentially innovative treatment options. This article includes explanations of the conditions and information regarding diagnosis and treatment of hemivertebrae and block vertebrae, malformations at the cranial-vertebral junction, osteocartilaginous exostoses, spinal bifida, and spinal stenosis.

Animals↗

PubMed2004

Arthroscopy for athletic foot and ankle injuries.

The development of arthroscopic techniques began in the early 1900s. Today, there are several techniques available for treating athletic injuries of the foot and ankle. This article describes arthroscopic techniques for the great toe, subtalar arthroscopy, anterior ankle impingement exostoses (footballer's ankle), posterior ankle arthroscopy, endoscopic calcaneoplasty, and osteochondral lesions of the talus. New techniques for arthroscopic repair of chronic ankle instability are reviewed, and the authors present their results with thermal-assisted capsular modification for chronic lateral ankle instability.

Ankle Injuries↗

PubMed1999

Nonorthopaedic problems in the aquatic athlete.

This article discusses a number of medical conditions that are common to aquatic athletes. Exercise-induced asthma is particularly prevalent in swimmers because swimming is among the activities tolerated best by asthmatics. The healthcare professional frequently must evaluate and manage respiratory infections and infectious mononucleosis in swimmers, particularly in regard to the safe timing of return to training and competition. Dilutional sports pseudoanemia must be differentiated from the true anemias that are due mostly to iron-deficiency and intravascular hemolysis. Finally, the evaluation, management, and prevention of otitis externa, external auditory canal exostoses, and dermatologic disorders in swimmers are reviewed.

Anemia↗

PubMed1989

A morphometric approach to the grading of chondroid tumours on fine-needle smears.

A morphometric study was performed on 600 nuclei from 6 benign chondroid tumours (BCL) (3 enchondromas and 3 exostoses), 600 nuclei from 6 well-differentiated chondrosarcomas (WDC) and 200 nuclei from moderately-differentiated chondrosarcomas (MDC) obtained by fine needle aspiration biopsy. The parameters considered were nuclear area, perimeter and maximum diameter. Moving across the three groups of lesions the nuclei appeared progressively larger. A statistical analysis was performed on the three groups. Significant differences between the means of all the parameters considered were observed. The authors suggest that morphometric analysis may be a possible step in the cytologic diagnosis and grading of chondroid tumours.

Adult↗

PubMed2003

Multiple huge osteomas of the mandible causing disfigurement related with Gardner's syndrome: case report.

As osteomas of the bones including the jaws may be the initial symptom or clinical finding in the Gardner's syndrome, this entity should always be included in the differential diagnosis. A 20-year-old boy was referred to our clinic from another medical center. Extra-oral examination of the patient revealed an obvious asymmetry and disfigurement of the left mandibular corpus, angle and ramus. A panoramic radiograph revealed two huge osteomas at the angle, ramus and two smaller osteomas at the inferior border of the mandible. At the same time, there were an impacted canine and premolar. Diffuse sclerosis of the whole mandible was also seen. Upon the suspicion of Gardner's syndrome, barium passage radiographs of the intestine were requested and multiple polyps were observed. All of these findings led us to the diagnosis of Gardner's syndrome. The oral and maxillofacial surgeon and the dentist needs to be aware of the components of this entity because manifestations in the head and neck including epidermoid cysts, osteomas, odontomas, exostoses, supernumerary and impacted teeth are common. At the same time, osteomas causing disfigurement on the face related with Gardner's syndrome with increased uptake in scintigraphic examination should be treated by surgical excision of the lesions.

Adult↗

PubMed1994

Treatment of temporomandibular joint structures by 308-nm excimer laser--an in vitro investigation.

Arthroscopy of the temporomandibular joint (TMJ) has become a clinically important and increasingly accepted method for diagnosis and treatment of TMJ alteration. This minimally invasive method is clearly limited by the anatomic dimensions of the TMJ. The 308-nm excimer laser has already found clinical applications in angioplasty, ophthalmology, and dentistry. This study aimed to find out whether it is possible to ablate TMJ-related structures under arthroscopic conditions. It also aimed to determine the energy threshold for ablation and the maximum rate of ablation. By histologic investigation of the irradiated tissues, the amount of tissue alteration was determined. TMJ structures of freshly slaughtered pigs served as tissue samples. The 308-nm excimer laser light was guided through optical fibers. The tissue was irradiated under continuous flow of saline solution. The energy threshold for ablation of TMJ structures was found at about 1 J/cm2. The maximum rate of ablation was found at 3-5 micron/pulse, depending on the type of tissue. The amount of tissue alteration varied between 1 and 150 microns. The types of tissue alteration were vacuolization and hyalinization. The results of the investigations described indicate that the 308-nm excimer laser is an ideal tool for TMJ arthroscopic surgery. Unlike other laser systems, it offers a unique combination of minimal tissue alteration, precise tissue ablation, guidability through optical fibers, and good transmission through water. This makes possible endoscopic removal of free bodies, adhesions, exostoses, and appositions in a minimally invasive surgical procedure.

Animals↗

PubMed2001

[Osteogenic exostosis of the capitate bone. Case report and review of the literature].

The occurrence of an osteochondroma in the carpus is very rare and its excision is indicated in the case of significant symptoms or change in its appearance. The diagnosis is often made in adulthood due to the onset of a functional problem even though development of the tumour occurs during skeletal growth. We report the case of a 38 year old patient, with no antecedent trauma, who presents with simultaneous exostoses on the dorsal and palmar surfaces of the capitate, which has not been previously described in the literature. The existence of a bipolar lesion extending anteriorly and posteriorly in the carpus is a possibility which may not be apparent and renders plain radiograph insufficient in the investigation of such a lesion. CT scan and MRI scan are indispensable in the investigation of this kind of carpal lesions, allowing better visualization of the base of the tumour, the expansion of the tumour and relation to the neighbouring soft tissues and the presence of malignant degeneration.

Adult↗

PubMed2004

Acute injury and chronic disability resulting from surfboard riding.

We undertook a cross-sectional survey of surfers at eight Victorian beaches between February and May 2003 and analysed acute injury and chronic disability sustained while surfing during the preceding 12 months. Significant injuries were defined as requiring medical attention or time off surfing/work. 646 surfers were enrolled (90.2% male, median age 27 years, median years of surfing 10). 145 surfers sustained 168 significant acute injuries in the preceding 12 months (0.26 injuries/surfer/year, 95% CI 0.22-0.30). Most were caused by striking a surfboard or another surfer (45.2%, 95% CI 37.6-53.1), "wiping out" (36.3%, 95% CI 29.1-44.1) or striking the seabed (17.9%, 95% CI 12.6-24.7). Injuries included lacerations (46.4%, 95% CI 38.8-54.3), sprains (28.6%, 95% CI 22.0-36.1), dislocations (10.7%, 95% CI 6.7-16.6) and fractures (8.9%, 95% CI 5.3-14.6). Body parts most frequently injured were the lower limb (45.8%, 95% CI 38.2-53.7) and the head/face (26.2%, 95% CI 19.9-33.6). Surfing injuries that were treated in Victorian emergency departments over a six year period revealed a similar pattern, although there was a greater proportion of head/face injuries (42.0%, 95% CI 36.0-48.1, p = 0.001). 20 surfers reported long-term effects from acute injuries, mainly unstable/stiff/painful joints. 136 surfers reported chronic health problems not related to acute injury including chronic/recurrent otitis externa and exostoses, muscle and joint pain/stiffness and pterygium. Significant injury while surfing is not uncommon. Although head injury accounts for a considerable proportion, very few surfers wear protective headgear. Greater use of protective headgear should be considered.

Adolescent↗

PubMed1993

Osteoma of the external auditory meatus presenting as an aural polyp.

Isolated osteomata of the external auditory canal are benign and often symptomless lesions, and are distinct from the much commoner exostoses. A case is reported in which an osteoma presented as a recurrent 'aural polyp' due to a fibroepithelial polypoid reaction in the overlying skin. The polyp and the osteoma were excised surgically. We believe this to be the first reported case to present in this manner.

Adult↗

PubMed2001

Uncommon clinical course of multiple osteochondromatosis in a patient with a long-term history of Cushing's disease.

Cushing's disease (CD), the chronic endogenous hypercortisolism derived from an ACTH-secreting pituitary adenoma, and multiple osteochondromatosis (MO), a congenital mesoderm dyschondroplasia, represent two distinct rare neoplastic diseases. Clinical appearance of MO usually occurs during the first-second decade of life. In fact, the growth of osteochondromas parallels the patient's growth, then becoming quiescent after the closure of the epiphyses and the achievement of final stature. Here we describe an uncommon case of a patient with a long-term history of childhood-onset CD, who surprisingly developed MO during the third decade of life, after the remission of CD. Indeed, a female patient had been followed for CD from the age of 12 to the age of 24 years, when CD definitively remitted. At the age of 26 the patient complained progressively worsening backache and pain at level of hips and feet. Standard radiography of skeleton showed multiple bone dysmorphisms at level of the four limbs, spine and pelvis consistent with multiple osteochondromas and exostoses. A diagnosis of MO was performed. Total body bone scintigraphy with 99mTc-MDP revealed an increased uptake of the radioligand, suggesting an increased metabolic turnover in correspondence of the majority of the osteochondromas. However, the negativity of the majority of the lesions at 99mTc-DMSA scintigraphy and the histological diagnosis of benign osteochondroma of the only positive lesion at 99mTc-DMSA evidenced that the high metabolic activity of the osteochondromas was not due to malignant transformation. However, the activity of the lesions was highly surprising considering that they usually become quiescent after the achievement of the final stature. In last analysis, the uncommon characteristics of MO and, particularly, its occurrence after stable remission of hypercortisolism, suggests a possible role of glucocorticoids in influencing the clinical course of the skeletal disease. The inhibitory effect of hypercortisolism on bone growth and maturation could explain the block in the proliferation of skeletal lesions during the developmental age, where CD was in the active phase, and the opposite effect of stimulation of the ostochondromas growth during stable normalization of cortisol secretion, after CD remission.

Adrenocorticotropic Hormone↗

PubMed2000

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref.2-5). We have positionally cloned a gene that spans the chromosomal breakpoint of two patients with TRPS I and is deleted in five patients with TRPS I and an interstitial deletion. Northern-blot analyses revealed transcripts of 7 and 10.5 kb. TRPS1has seven exons and an ORF of 3,843 bp. The predicted protein sequence has two potential nuclear localization signals and an unusual combination of different zinc-finger motifs, including IKAROS-like and GATA-binding sequences. We identified six different nonsense mutations in ten unrelated patients. Our findings suggest that haploinsufficiency for this putative transcription factor causes TRPS I.

Blotting, Northern↗

PubMed2001

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

Animals↗

PubMed1992

Solitary spinal osteochondroma causing neural syndromes.

Three cases of solitary osteochondroma of the spine are reported. Two presented with cervical myelopathy and one with radiculopathy. Plain radiography or tomography is adequate for the diagnosis in the majority of cases; nevertheless, a CT scan or MRI is of immense help in planning surgical treatment. The radiological features of spinal exostoses are reviewed.

Adolescent↗

PubMed1975

[Constitutional narrowing of the cervical spinal canal. Radiological and clinical findings].

A constitutional narrowing of the cervical spinal canal was seen in 31 patients with neurological disorders. The ratio of the inner diameter of the spinal canal to the diameter of the vertebral body was smaller than 1 (normal greater than 1). Clinical signs were observed from 45 years upwards where reactivedegenerative changes cause additional narrowing. The majority of patients were male, predominantly heavy manual labourers. There is often a trauma preceding. On myelography multilocular deformations of the spinal subarachnoid space and nerve roots are seen. On the mechanical narrowing of the spinal canal a vascular factor supervenes, caused by exostoses, intervertebral disc protrusions, and fibrosing processes. Clinically a chronic progressive spinal transection syndrome (cervical myelopathy) dominates besides a multilocular root involvement. Posterior column sensibility is predominantly lost. Pain in the extemities and the cervical column is an early symptom. Non-specific CSF changes occur frequently. In case of root involvement the electromyogram is pathological. The prognosis is bad. Operation can only remove reactive processes but not the constitutional anomaly.

Adult↗

PubMed2000

[Treatment of a radio-ulnar synostosis by resection and interposition of a septofascial flap--a case report].

Posttraumatic bone formation between radius and ulna can limit forearm rotation considerably. Recurrence after resection of synostoses is likely to develop if the bony surfaces are not covered by gliding soft tissue that is well vascularised. The interposition of a fascial forearm flap pedicled on the septal vessels of the posterior interosseous artery is suitable for this particular purpose. We report on the case of a spontaneous radioulnar synostosis by cartilaginous exostoses and its treatment by resection and interposition of a vascularised fascial flap. Forearm rotation was restored to normal. Until two years postoperatively there has been no recurrence of the synostosis.

Adolescent↗

PubMed1997

[Infra-saccular lacrimal duct stenosis caused by bone thickening of the inner nasal bones in tuberous sclerosis].

BACKGROUND: Patients with tuberous sclerosis (Morbus Bourneville-Pringle) may show hamartomatous tumors of different organ systems. 50% of patients display astrocytic hamartomas of the retina. The skeletal system is affected in 40%: peri-, en- or exostoses, or cysts may occur. To the best of our knowledge, there are only three descriptions of an involvement of the facial skeleton in the literature. PATIENT: A 54-year-old man presented with recurrent dacryocystitis and lacrimal duct obstruction. Tuberous sclerosis and epilepsy were present since childhood. Besides typical skin lesions and intracranial calcified astrocytomas a retinal astrocytoma was detected in his left eye. Coronal CT scan revealed endonasal bone thickening involving the nasal floor, conchae and lateral walls. Evidence of maxillary and ethmoidal sinusitis was also present. CONCLUSION: The endonasal findings in our patient are most likely a manifestation of tuberous sclerosis of the facial skeleton. They may have favored the development of marked sinusitis and lacrimal duct obstruction.

Dacryocystitis↗

PubMedDate not supplied

[Proteus syndrome: a case report].

The Proteus-syndrome is a recently described congenital hamartomatosis consisting of numerous clinical features of great variety. Mainly affected are the musculo-skeletal system, primarily by hemihypertrophy, macrodactyly and exostoses, and the skin and the subcutaneous tissue, primarily by pigmented naevi and subcutaneous tumors. The differential diagnosis includes other malformation syndromes, e. g. Klippel-Trenaunay-Weber syndrome and other hamartomatosis. Surgical intervention and treatment is difficult because of a frequency of complications and recurrences. This article describes clinical manifestations of Proteus syndrome, differential diagnosis and therapeutic strategies.

Child↗