Duplication 6q21q23 in two unrelated patients.

We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies.

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference less than 10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A "triangular" face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.

Porous-coated femoral components in a canine model for revision arthroplasty.

UNLABELLED: Six dogs had a total hip arthroplasty during which the femoral component was coated with methacrylate and inserted in the femoral canal, after the canal had been reamed to a larger diameter than that of the femoral stem (including the coating). Thus, the implant was loose and motion was present between it and the femur in each animal. Five dogs had a revision to a prosthesis with a porous polysulfone-coated stem. This prosthesis was not cemented in place. One dog was killed before the revision for the purpose of histological examination. Although bone was present in the porous surface of all five stems at the revision, the amount was scant in three. CLINICAL RELEVANCE: A model is described for the study of cemented hip-replacement prostheses that have failed. Although variable amounts of ingrowth of bone were observed after the revision to the porous-coated prostheses without bone cement, further study is needed to determine whether adequate ingrowth of bone occurs in this model.

Total hip arthroplasty in patients who have sickle-cell hemoglobinopathy.

Eleven patients who had a form of sickle-cell hemoglobinopathy had a total hip arthroplasty for avascular necrosis of the hip. Four patients had a revision and three had a resection arthroplasty. Four had a serious infection postoperatively. Both acute and late complications were numerous. We concluded that patients who have a sickle-cell hemoglobinopathy are at markedly increased risk for complications after total hip replacement arthroplasty, yet that over-all the results are favorable.

Surgical reconstruction of late post-traumatic thoracolumbar kyphosis.

Thirty-four patients underwent surgery for late post-traumatic thoracolumbar kyphosis. Indications for surgery included increasing kyphotic deformity, pain, or increasing neurologic deficit. Procedures included anterior spinal fusion only, posterior spinal fusion only, anterior and posterior fusions as staged procedures, and anterior and posterior fusions under the same anesthetic. Eighteen of the patients with anterior fusions also underwent decompression of the spinal cord by resection of the vertebral body. Stable fusion with halt in progression of deformity was obtained in 33 of the 34 patients by following basic biomechanical principles.

Proximal femoral bone loss after total hip arthroplasty.

The cause of bone loss from the proximal femur after total hip arthroplasty is multifactorial and may progress to a degree at which loss of support for the femoral component occurs. The most durable means of reconstructing the deficient proximal femur involves bone grafting techniques designed to restore mechanical integrity. Because there is seldom an adequate quantity of autogenous bone available, allograft bone is frequently used. The indications and limitations of this procedure are described as are other treatment options.

Deep venous thrombosis in total hip arthroplasty.

Deep venous thrombosis (DVT) is the most common complication of total hip arthroplasty. This article discusses the pathogenesis and diagnosis of DVT and recommends prophylaxis and treatment options.

Prevalence of coagulase-positive staphylococci, other than Staphylococcus aureus, in bovine mastitis.

OBJECTIVE: To determine prevalence and relevance of coagulase-positive Staphylococcus hyicus and S intermedius intramammary infections (IMI) in dairy cows and determine the ability of the 4-hour tube coagulase (TC) test to differentiate the coagulase-positive staphylococci (CPS). DESIGN: Prevalence of CPS was determined for primiparous cows (point prevalence and prevalence at first parturition) and multiparous cows (point prevalence) of 2 herd groups: < 6% CPS IMI prevalence = low prevalence (LP); > 10% CPS IMI prevalence = high prevalence (HP). SAMPLE POPULATION: For prevalence, cows of 22 dairy herds. For TC, 1,038 CPS strains isolated from cow milk. PROCEDURE: Speciation of CPS from aseptically collected composite milk samples was performed. Coagulase-positive isolates from 4 cow groups were tested for their ability to coagulate rabbit plasma by 4 hours: LP and HP primiparous cows at parturition, and LP and HP cows any time after first parturition. RESULTS: Of 487 CPS in the prevalence study, 82.1% were S aureus, 17.7% were coagulase-positive S hyicus, and 0.2% were S intermedius. Of all CPS IMI in LP herds, 34% were coagulase-positive S hyicus; of all CPS IMI in HP herds, 9% were coagulase-positive S hyicus. Coagulase-positive S hyicus appeared to persist to the end of lactation in 4 cows (mean linear somatic cell count = 3.7). The TC test was > or = 97% sensitive, < or = 33% specific, and had a predictive value positive range of 60 to 97% for S aureus isolates. CONCLUSION: Coagulase-positive S hyicus appears capable of inducing chronic, low-grade IMI. Staphylococcus intermedius does not appear to be an important mastitis pathogen. The TC test is not valid to use as the sole method to differentiate CPS species.

Hypercalcemia and hypervitaminosis D in two lambs.

Twin 17-day-old crossbred male lambs were examined to determine the cause of weakness and failure to thrive. Hypercalcemia attributable to hypervitaminosis D was diagnosed. The milk replacer or an accidental overdose of an injectable vitamin D product was suspected to be the source, although a definite cause was not confirmed. Lambs responded favorably to palliative treatment (administration of saline [0.9% NaCl] solution to induce calcium diuresis) and changing the diet to another milk replacer.

Fat embolism syndrome after bilateral total knee replacement.

An elderly patient who underwent bilateral total knee arthroplasty suffered the relatively uncommon complication of the fat embolism syndrome; treatment was successful.

The Mauch hydraulic knee unit for above knee amputation.

Hydraulic knee units provide a mechanical means of simulating normal gait in the above knee amputee. Sixty-one above the knee amputees were fitted with 70 Mauch SNS hydraulic knee units. Four of 60 patients rejected or were unable to use the hydraulic knee. Only one patient rejected the hydraulic knee unit for another design. Therefore, the rate of acceptance of the prosthesis was 93%. If inappropriate prescriptions for two triple amputees are omitted, the acceptance rate rises to 97%. A significant majority of patients stated that the hydraulic knee unit gave them a smoother gait, ability to change cadence, increased activity level, increased stability in stance phase, fewer falls, and less fatigue.

Clinical consequences of hyperglycemia during remission induction therapy for pediatric acute lymphoblastic leukemia.

Hyperglycemia adversely affects outcome in adult patients with acute lymphoblastic leukemia (ALL), but its impact on children with this disease is unknown. We evaluated the relationship between hyperglycemia during remission induction therapy and clinical outcomes among pediatric patients with ALL. We reviewed the records of patients enrolled on four consecutive ALL protocols (Total Therapy protocols XIIIA, XIIIB, XIV and XV) at St Jude Children's Research Hospital from 1991 to 2007 and identified those who experienced hyperglycemia (glucose >or=200 mg per 100 ml) during remission induction. Complete remission (CR) rates at the end of induction, event-free survival (EFS), overall survival (OS), cumulative incidence of relapse and occurrence of infections were compared between those who did and did not experience hyperglycemia. Of 871 patients analyzed, 141 (16%) experienced hyperglycemia during remission induction. Patients with hyperglycemia were significantly older than the other patients (P<0.0001). There was no significant difference in CR rate (P=0.92), EFS (P=0.80), OS (P=0.28), cumulative incidence of relapse (P=0.59) or in the probability or types of infection between patients who did and did not experience hyperglycemia. Pediatric patients with or without hyperglycemia during remission induction for ALL have similar clinical outcome. Occurrence of hyperglycemia does not warrant alteration of the antileukemic regimen.

Late hemarthrosis from a threaded acetabular component.

Painful hemarthrosis 6 months after total hip arthroplasty resulted from erosion of the anterior hip capsule over exposed threads of a threaded acetabular component. The capsular laceration occurred in an area of bone deficiency at the anterior acetabular lip underlying the psoas tendon. The diagnosis was made at the time of surgical exploration. Threaded sockets should be contained by bone in the area of these structures to prevent this previously undescribed complication.

Breast cancer metastatic to the foot with massive bone loss.

An unusual case of rapid destruction of the entire bone structure of the foot in a 53-year-old woman is described. Although metastasis of breast cancer to the foot has been reported, it is uncommon. The unusual aggressive presentation of the metastasis in this case necessitated amputation for the control of pain.

Bipolar components for severe periacetabular bone loss around the failed total hip arthroplasty.

Twenty-seven patients had revision of a failed total hip arthroplasty using a bipolar component to replace the acetabulum. The procedure was done when periacetabular bone loss precluded stable fixation of the revision component to bone. In addition, three of the operations were done for recurrent dislocation in patients with severe medical problems. Significant component migration occurred in one case, and one patient required reoperation for dislocation in the early postoperative period. Functional results in these 27 patients were quite satisfactory; bone grafts reliably became consolidated to the host pelvis.

Porous polymers for biological fixation.

Porous polymers are recommended as coatings for femoral stems on the basis of their low modulus, which allows uniform distribution of stress to surrounding bone and the fabrication of more flexible stems by reducing the metallic cross section. Application of the porous polymer coating to the metallic substrate reduces metal ion release; the polymer coating does not affect the mechanical properties of the device. Porous polytetrafluoroethylene-carbon fiber composite, (PCFC), porous polyethylene, and porous polysulfone are undergoing investigation for this application. However, the low strength of the PCFC makes its use for this application questionable. Recently reported unfavorable clinical results (i.e., a high incidence of pain) have led to the discontinuation of one trial of porous polyethylene. Clinical investigation of porous polysulfone-coated titanium alloy devices are in progress. Animal studies have shown bone ingrowth into porous polyethylene and porous polysulfone implants in cortical and cancellous bone and in canine femoral stems coated with these materials. Pull-out testing of porous polysulfone implants revealed that the strength of the porous material was higher than the strength of surrounding bone. Less cortical bone loss was found around porous polysulfone-coated canine stems than was reported for fully coated porous metallic prostheses, presumably because of the lower stiffness.