Biomedical subjects

K Reinker

Publications and source records attributed to K Reinker.

9 recordsLinked to original sources

PubMed1999

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling proteins (TGFbeta-FMs), such as BMP4 (ref. 1). By diffusing through extracellular matrices more efficiently than TGFbeta-FMs, noggin may have a principal role in creating morphogenic gradients. During mouse embryogenesis, Nog is expressed at multiple sites, including developing bones. Nog-/- mice die at birth from multiple defects that include bony fusion of the appendicular skeleton. We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. We also found a dominant NOG mutation in a family segregating multiple synostoses syndrome (SYNS1; OMIM 186500); both SYM1 and SYNS1 have multiple joint fusion as their principal feature. All seven NOG mutations alter evolutionarily conserved amino acid residues. The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species.

Abnormalities, Multiple↗

PubMed1998

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature onset of joint fusions, which initially affect the interphalangeal joints, by characteristic facies, and by deafness. We performed linkage analysis on a large Hawaiian family with multiple synostoses syndrome. Because another autosomal dominant disorder, proximal symphalangism, shares some clinical symptoms with multiple synostoses syndrome and has been linked to markers at loci at chromosome 17q21-22, we tested the hypothesis that multiple synostoses syndrome is linked to the same chromosomal region. Using polymorphic markers from the proximal symphalangism interval, we conducted linkage analysis and showed that the multiple synostoses-syndrome phenotype is linked to the same chromosomal region. A maximum LOD score of 3.98 at recombination fraction of .00 was achieved for the marker at locus D17S787. Further genetic analysis identified individuals with recombinant genotypes, allowing localization of the disease gene within the interval D17S931-D17S792, a 16-cM region. These data provide evidence that multiple synostoses syndrome and proximal symphalangism may be allelic disorders.

Abnormalities, Multiple↗

PubMed1994

A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.

We have identified a large family with a dominantly inherited chondrodysplasia characterized by a waddling gait, short limbs, and early onset osteoarthritis. The radiographic presentation resembles pseudoachondroplasia in childhood and multiple epiphyseal dysplasia in adults. Electron microscopic examination of cartilage reveals accumulation of material within the rough endoplasmic reticulum similar to that seen in pseudoachondroplasia and the Fairbank type of multiple epiphyseal dysplasia. By linkage analysis, we have excluded the genes for aggrecan, decorin, hexabrachion (tenascin), type II procollagen, the alpha 1 chain of type XI procollagen, the alpha 1 chain of type IX procollagen, and link protein, candidate genes that encode structural components of the cartilage extracellular matrix, as the disease locus for this disorder.

Abnormalities, Multiple↗

PubMed1994

Thumb duplication, 66 years' experience--a review of surgical complications.

Fifty-four supernumerary thumbs excisions were followed for an average of 9 years for results of their surgical management, which consisted of simple excision (16 patients), reconstructive procedures (33 patients), or central wedge resections (5 patients). Half of all simple excisions and reconstructive procedures gave unacceptable results, most were salvaged. These were primarily joint deviations, joint instabilities, and bony prominences. All of our central wedge resections gave unacceptable results that were not salvageable--short, stiff, fat thumbs with nail deformities. We feel this procedure should probably be reserved for cases where both digits of the supernumerary thumbs are severely hypoplastic.

Adolescent↗

PubMed1993

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. We recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), we have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinants between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome.

Achondroplasia↗

PubMedDate not supplied

Congenital constriction band syndrome: a seventy-year experience.

Seventy-one cases of congenital constriction band syndrome (CCBS) were reviewed. The year of birth, sex, ethnic background, gestational history, family history, and concurrent diagnoses were obtained. The anatomic patterns of involvement, degree of impairment, and number and type of surgical interventions were recorded. The incidence of CCBS appears to be rising. The average patient had three involved limbs, with a predilection for distal, central digits of the upper extremity. Abnormal gestational histories were found in 60% of the cases; 50% had concurrent diagnoses, and nearly one-third had club-feet. The average patient had a 20% whole body impairment and required three reconstructive procedures. Distraction osteogenesis and free osteocutaneous transfer were useful. We feel that the term "early amnion rupture sequence" more accurately reflects the true pathogenesis of CCBS.

Abnormalities, Multiple↗

PubMedDate not supplied

Toxic shock syndrome as a complication of orthopaedic surgery.

Toxic shock syndrome (TSS) was initially described by Todd et al. in 1978. TSS as a complication of orthopaedic surgery was reported in 1984. There have been previously a total of nine cases of TSS reported in orthopaedic patients. These patients presented at an average of 13 days postoperatively compared to 2 days for general surgical patients. Patients with external fixators, however, presented an average of 25 days postoperatively. Menstrual TSS and nonmenstrual TSS present similarly; however, the fatality rate is reported as 10 and 50%, respectively. There was a 27% case fatality rate in orthopaedic patients. Because TSS is not a septicemia but a toxemia, the treatment depends on aggressive hemodynamic stabilization rather than antibiotic therapy. The classical presentation of TSS is not often seen in patients with TSS complicating orthopaedic surgery. Wounds rarely have any signs of infection. This presentation may be even more difficult to identify due to the occasionally long latency period between surgery and the development of TSS. It appears that external fixators may be left in place if there are no signs of infection. This requires further study.

Child, Preschool↗

PubMedDate not supplied

Accurate needle placement by the suction-bubble technique for hip arthrography.

We present a novel, effective method for verifying intraarticular needle placement for hip aspiration and arthrography. The vacuum created by hip-joint distraction induces an easily visualized movement of air bubbles in attached tubing, thereby confirming accurate localization. The suction-bubble technique is safe, objective, and reproducible in even inexperienced hands. We report no complications of erroneous extracapsular injection of contrast in >50 cases.

Arthrography↗

PubMedDate not supplied

Attempted limb lengthenings beyond twenty percent of the initial bone length: results and complications.

In response to historic guidelines suggesting limits to the amount of limb lengthening, we report the results and complications of those patients in whom the initial goal of lengthening exceeded 20% of the initial segment length. Thirty-one patients underwent a total of 35 attempted lengthenings with a mean follow-up of 38.6 months. Limb-length discrepancy was the primary indication in all but one case. With an average goal of 35% of the original bone length, we achieved a mean gain of 33%. Lengthening to within 2.5 cm was achieved in 31 (89%) of 35 cases, and significantly more successful with goals extending < or =55% of the initial bone length (p<0.05). Treatment times extended a mean of 8.7 months with a healing index of 37 days/cm. By Paley's classification scheme, all had problems, in addition to an average of 1.3 obstacles and 0.9 complications per segment lengthened. In 23 patients with extended follow-up, good to excellent results were achieved in 78%, and were significantly more successful with goals < or =55% (< or =0.05).

Arm↗