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At least 199 records · Page 11Linked to original sources
PubMed1993

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding protein that contains a structural motif known as the paired domain and is believed to regulate the expression of other genes. In this report we describe two new mutations, in the human PAX3 gene, that are associated with WS. One mutation was found in a family with WS-I, while the other mutation was found in a family with WS-III. Both mutations were in the highly conserved paired domain of the human PAX3 gene and are similar to other mutations that cause WS. The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.

Amino Acid Sequence↗
PubMed1993

Osteochondritis dissecans of the knee in an adult with Stickler syndrome.

A 35-year-old man with hereditary progressive arthro-ophthalmopathy (Stickler syndrome) was treated for osteochondritis dissecans of the knee. As has been described in families with this autosomal-dominant connective-tissue disorder, phenotypic variation was present in his family; the patient's primary manifestations of the syndrome were ocular, but his brother had significant joint involvement. Osteochondritis dissecans of the knee may be a component of the arthrosis in this syndrome, but in the current case, the occurrence might have been coincidental. Stickler syndrome can be manifested by multiple musculoskeletal abnormalities, often early in life, and may be mistaken for several other diseases.

Adult↗
PubMed1996

Regulation of glycosaminoglycan metabolism by bone morphogenetic protein-2 in equine cartilage explant cultures.

OBJECTIVE: To investigate whether recombinant human bone morphogenetic protein-2 (rhBMP-2) regulates glycosaminoglycan (GAG) synthesis and release from equine articular cartilage explant cultures. DESIGN: Equine articular cartilage explants were maintained in vitro for 7 days in the presence of 0 (control), 1, 10, or 100 ng of rhBMP-2/ml. Synthesis and release of GAG were assessed as measures of production and degradation of the extracellular matrix, respectively. ANIMALS: 6 horses (age range, 2 to 25 years old) without clinically detectable musculoskeletal abnormalities. PROCEDURE: Rate of synthesis of GAG was assessed by incorporation of [36S]sulfate during the final 24 hours of the 7-day incubation period. Release of GAG was assessed on days 3, 6, and 7, using 1,9-dimethylmethylene blue. RESULTS: Explants from all 6 horses had a significant (P = 0.05) increase in release of GAG in response to incubation with 100 ng of rhBMP-2/ml. There was a significant (P = 0.05) decrease in GAG synthesis in explants from only 2 of the 6 horses at the same concentration of rhBMP-2. There was no significant age correlation between responsive and nonresponsive horses. CONCLUSIONS: A concentration of 100 ng of rhBMP-2/ml stimulates GAG release from explant cultures of equine articular cartilage. The data suggest that bone morphogenetic proteins may be potential regulators of equine cartilage degradation and repair. CLINICAL RELEVANCE: Surgical procedures that damage subchondral bone may stimulate generation of improved cartilage-like tissue. It is, therefore, crucial to understand how bone-derived factors may influence cartilage metabolism in horses.

Animals↗
PubMed1996

Long-term outlook for survivors of congenital diaphragmatic hernia.

CDH patients are critically ill but can expect excellent survival if other serious anomalies are not present; however, significant long-term morbidities exist in the survivors. The most notable of these are developmental delay, poor growth, gastroesophageal reflux disease, hearing loss, and musculoskeletal abnormalities. Patients require careful long-term follow-up for these problems, and caregivers must continue to critically evaluate their medical interventions in the neonatal period to try to minimize these morbidities.

Child, Preschool↗
PubMed1997

Secondary deformities following mandibular reconstruction.

Restoration of secondary deformities following mandible reconstruction is a difficult challenge. Prevention is sometimes possible by careful planning, but frequently these problems are unavoidable. Thoughtful analysis of the deformity and individualized treatment planning are key ingredients of proper management.

Bone and Bones↗
PubMed1997

Musculoskeletal manifestations of AIDS.

Musculoskeletal manifestations in the HIV- and AIDS-infected patient are not as common as in other organ systems. A variety of musculoskeletal abnormalities are discussed in this article, including infection, arthritis, and neoplasms. A brief discussion of miscellaneous conditions, such as avascular necrosis, hypertrophic osteoarthropathy, reflex sympathetic dystrophy, and bone marrows abnormalities is also included.

AIDS-Related Opportunistic Infections↗
PubMed1998

Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity.

This case study describes the clinical evaluation and diagnosis of Hurler's syndrome in a 7-month-old child who was noted to have a thoracolumbar kyphosis (gibbus deformity), coarse facial features, and possible evidence of gross motor delay. The diagnosis of Hurler's syndrome was aided specifically by the identification of the gibbus deformity. Children with Hurler's syndrome appear nearly normal at birth, and the most common early presenting features are the nonspecific symptoms of rhinitis and inguinal hernia. Most often, the earliest possible diagnosis of Hurler's syndrome is contingent on the recognition of the initial pattern of musculoskeletal abnormalities, which become increasingly pronounced after the 6th month. Because of the characteristic progression of neurological and intellectual deterioration found in children with Hurler's syndrome, early diagnosis and treatment are critical to the preservation of long-term intellectual development. The pathophysiology of Hurler's syndrome and the causes of kyphosis in infancy and childhood are discussed.

Bone Marrow Transplantation↗
PubMed2004

Congenital abnormalities of the musculoskeletal system: perinatal evaluation and long-term outcome.

Many musculoskeletal malformations can be detected by prenatal US. Whether isolated or part of a syndrome, these anomalies can have a significant impact on the entire life of the individual. Nonfatal conditions may be subtle and become more recognizable in the second and third trimester. After delivery, radiography helps confirm the diagnosis. US, CT, and MRI all have a role in imaging the primary abnormality, the follow-up effects of treatment, and in monitoring for potential complications that may develop over time. Three-dimensional imaging has an increasing role, in US, CT, and MRI, both in the prenatal and postnatal periods.

Female↗
PubMed1986

Screening for congenital dislocation of the hip, scoliosis, and other abnormalities affecting the musculoskeletal system.

The three main conditions affecting the musculoskeletal system currently being screened for are spina bifida cystica, congenital dislocation of the hip, and scoliosis. The techniques of screening are different for each: amniotic fluid analysis for spina bifida cystica, a manual physical examination for congenital dislocation of the hip, and a visual examination for scoliosis. Properly time amniotic fluid analysis for alpha-fetoprotein is both a sensitive and specific test for neural tube defects. However, because of the low incidence of spina bifida cystica, this examination is justified only in high-risk pregnancies. Maternal serum screening has not achieved widespread acceptance because of its lack of sensitivity and the low and apparently falling incidence of the deformity. The neonatal manual examination for congenital dislocation of the hip is now well established and widely practiced. Almost all agree that the incidence of persistent congenital dislocation of the hip has been lowered as a result. However, the examination lacks both sensitivity and specificity because of intrinsic difficulties with the examination and the occurrence of late onset subluxation and dislocation. It is becoming apparent that congenital dislocation of the hip is a dynamic problem in the peri- and early neonatal period. Repeated careful evaluation of the hips during infancy is necessary to make the diagnosis as early as possible. To further enhance early detection, it may be necessary to consider obtaining an anteroposterior pelvis radiograph at age 4 to 6 months in babies at high risk. The visual evaluation for scoliosis is a very sensitive test but lacks specificity. Efforts are now being made to quantify visual screening techniques and thus decrease the numbers of false-positive examinations.

Adolescent↗
PubMed1993

Musculoskeletal manifestations of chronic renal insufficiency.

Abnormalities involving the musculoskeletal system are numerous and frequent in patients with chronic renal insufficiency (CRI). The most common radiologic manifestations of CRI are those referred to collectively as renal osteodystrophy: the findings seen in secondary hyperparathyroidism (bone resorption, periosteal reaction, and brown tumors), osteoporosis, osteosclerosis, osteomalacia, and soft-tissue and vascular calcification. Bone resorption, the most frequent alteration of CRI, occurs in several locations (subperiosteal, subchondral, trabecular, endosteal, and subligamentous), whereas brown tumors and periosteal reaction are much less common. Osteosclerosis primarily affects the axial skeleton and may be the only sign of CRI. Osteoporosis and osteomalacia cause osteopenia and are not infrequent changes of CRI. The prevalence of calcifications increases with the duration of hemodialysis. The other major group of musculoskeletal abnormalities attributable to CRI includes aluminum deposition, amyloid deposition and destructive spondyloarthropathy, tendon rupture, crystal deposition, infection, and avascular necrosis. These changes are less common than those of renal osteodystrophy and are more frequently seen in patients who have undergone long-term hemodialysis or renal transplantation. Recognition of musculoskeletal manifestations is important in the clinical management of patients with CRI.

Bone Diseases↗