Biomedical subjects

Zhon-Liau Lee

Publications and source records attributed to Zhon-Liau Lee.

13 recordsLinked to original sources

PubMed2006

Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.

BACKGROUND: X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disease characterized by renal phosphate wasting, hypophosphatemia, aberrant vitamin D metabolism, and defective bone mineralization. The disease is caused by mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X-chromosome) located at Xp22.1. To date, a variety of PHEX mutations have been identified in these patients. METHODS: PCR and direct sequencing was performed for all exons and intron-exon boundaries of the PHEX gene in two XLH families. RESULTS: Two novel mutations, including a missense mutation (L206W) in exon 5 and a frameshift mutation (nucleotide 1826_1830delAAAAG, stop after codon 610) in exon 18 were discovered and the laboratory and radiographic findings for these patients analyzed. CONCLUSIONS: We found that PHEX gene mutations were responsible for XLH in these Taiwanese patients. Additional studies are needed to enhance understanding of the role of PHEX in XLH pathogenesis.

Adult↗

PubMed2006

Progressive coxa vara by eccentric growth tethering in immature pigs.

The present study tested progressive coxa vara by eccentric growth tethering that might be used to correct coxa valga in cerebral palsy. Eight young pigs received screw fixation at inferior portion of right femoral head at age 4 months and were killed at age 7.25 months for bilateral femurs for comparison. The neck-shaft angle at the tethered side was significantly less than that at the control side (129.8 vs. 138.3 degrees , P<0.05). Histological study showed bony bar formation. Eccentric growth tethering by one screw resulted in a reduction of neck-shaft angle by 8.5 degrees and shortening of femoral length by 4%.

Animals↗

PubMed2005

Low success rate of non-intervention after breakage of interlocking nails.

We followed 12 patients with nailed femoral shaft fractures in which breakage of the static locked nail occurred during fracture treatment. Only two fractures united. The remaining ten fractures had to be treated with exchange nailing after a median of 10 (4-14) months. Nine fractures healed after a median of 5 (4-7) months and one was lost to follow-up. Although breakage of a proximal static reamed femoral locked nail may imitate the effect of dynamisation, the success rate is low. Early exchange nailing is a more successful option to achieve fracture union.

Adult↗

PubMed2005

Treatment of femoral shaft aseptic nonunion associated with broken distal locked screws and shortening.

BACKGROUND: This retrospective study investigated the treatment of femoral shaft aseptic nonunions associated with broken distal locked screws and shortening. METHODS: In this study, 11 femoral shaft aseptic nonunions associated with both broken distal locked screws and shortening in 11 consecutive adult patients were treated. All nonunions were associated with at least 1.5 cm (range, 1.5-3.5 cm) shortening. These nonunions were treated by removal of locked nails, one-stage femoral lengthening, static locked nail stabilization, and corticocancellous bone graft supplementation. Postoperatively, ambulation with protected weightbearing was encouraged as early as possible. RESULTS: Ten nonunions were followed up for a median of 4.1 years (range, 1.8-5.5 years), and nine fractures healed at a median of 4 months (range, 3-6 months). The nonunion case had broken locked screws again at 5 months and was treated with exchange nailing. The fracture healed uneventfully at 4 months. No other complications occurred. CONCLUSIONS: The key to removal of broken screws is withdrawal of the nail slightly to release the incarcerated broken screw end. The screw end then is pushed out with a used Knowles' pin or a smaller screwdriver under image intensifier guidance. Concomitant one-stage femoral lengthening to treat nonunion with shortening has a high success rate.

Adult↗

PubMed2005

Rush pin fixation versus traction and casting for femoral fracture in children older than seven years.

BACKGROUND: The optimal treatment for femoral fractures in children is controversial. The purpose of this study was to compare the results of Rush pin fixation with those of conservative treatment, and to evaluate the sequels of growth plate injury by internal fixation. METHODS: Eighteen femoral shaft fractures in 17 children who had concomitant head injury or multiple traumas were treated surgically. The mean age at operation was 9 years 3 months (range, 7 years 5 months to 11 years 1 month). One Rush pin was inserted from the tip of the greater trochanter, without reaming, to fix the fracture. Another 20 age-matched children treated by traction and casting were the control subjects. RESULTS: All the fractures united without consequences. In addition to a decrease in hospital stay with the use of the Rush pin (10 days vs. 27 days, p<0.05), fewer leg length discrepancies (4.2 mm vs. 7.1 mm, p<0.05) were also noted, compared with conservative treatment. The growth of the proximal femur after Rush pin fixation was evaluated after an average of 59 months. No femur shortening, coxa valgus, or hip dysplasia was noted. CONCLUSIONS: Intramedullary Rush pin fixation for femoral shaft fracture in children older than 7 years is a simple and reliable alternative. One narrow and non-reaming pin inserted from greater trochanter did not demonstrate femoral growth inhibition.

Casts, Surgical↗

PubMed2004

Microsurgical second toe-metatarsal bone transfer for reconstructing congenital radial deficiency with hypoplastic thumb.

This study describes a consecutive series of 11 children who received a microsurgical second toe-metatarsal bone transfer for reconstructing a hypoplastic thumb associated with radial club hand, between 1996 and 2000. The parents refused pollicization in all cases for aesthetic and cultural reasons. Surgery was intended to improve hand function and cosmetic appearance. The average patient age was 3 years, and the average follow-up period was 4 years. Average surgery time for the second toe-metatarsal bone transplantation was 8 hr. The primary success rate was 90.9 percent, with one patient requiring repeat surgery owing to venous occlusion. The surgical outcomes reveal a normal growth of the transferred toe, an acceptable range of motion, and satisfactory recovery of sensation. All children achieved both small and large grasp functions. The parents were satisfied with the reconstruction procedures. Based on the preliminary results, second toe-metatarsal bone transfer appears an acceptable alternative for reconstructing radial deficiency with hypoplastic thumb.

Bone Transplantation↗

PubMed2004

One-stage lengthening using a locked nailing technique for distal femoral shaft nonunions associated with shortening.

OBJECTIVE: To assess the effectiveness of a one-stage lengthening using a locked nail technique for the treatment of distal femoral shaft nonunions associated with shortening. DESIGN: Retrospective. SETTING: University hospital. PATIENTS AND METHODS: During a 6-year period, 36 distal femoral shaft nonunions associated with shortening (>1.5 cm) were treated by the one-stage lengthening technique. Indications for this technique were distal femoral shaft aseptic or quiescent infected nonunions, 1.5-5 cm shortening, and a fracture level suitable for the insertion of two distal locked screws. The surgical technique involved skeletal traction using the femoral condyle, local débridement, lengthening by <or=4 cm aided by a laminar spreader, insertion of a static locked nail, and grafting of corticocancellous bone. Mize's classification for clinical function was used for final patient evaluation. RESULTS: A total of 32 nonunions were followed-up for at least 1 year (median 3.8 years; range 1.2-6.9 years), and 29 fractures healed. The median union period was 4.5 months (range 3-6 months). Three fractures persistently failed to heal. One was treated successfully with exchange nailing, and the remaining two patients were followed annually and had no symptoms. At the latest follow-up, all 32 patients had achieved a satisfactory outcome. The average lengthening was 2.5 cm (range 1.5-3.5 cm). CONCLUSIONS: One-stage lengthening using the locked nailing technique to treat distal femoral shaft nonunions associated with shortening can achieve a high success rate and low complication rate. The key to successful treatment is the patient's complete cooperation with strictly protected weight bearing until the fracture has healed.

Adult↗

PubMed2004

Intervertebral disc herniation in adolescents.

BACKGROUND: The purpose of this study was to review surgery-proven lumbar disc herniation in adolescents with an emphasis on the distinguishing features. METHODS: Twenty-eight adolescents between 14 and 18 years old had lumbar discectomy after conservative treatment for 9 months. Indications for surgery were intractable pain and failure of conservative treatment for more than 6 weeks. Lumbar spine apophyseal ring fracture was found in 10 of the 24 patients (42%) who had computed tomography studies. Seven patients had piecemeal excision of the fractured apophysis together with the discectomy. RESULTS: All but three patients could raise their leg more than 70 degrees after the operation. The latest follow-up was conducted an average of 6.1 years after surgery. Good or excellent results were noted in 93% of the patients. Two patients had follow-up operations for recurrent disc herniation and wound infection. CONCLUSION: Apophyseal ring fracture was a feature in adolescent disc herniation that requires surgical intervention. Early computed tomography study is proposed to detect apophyseal ring lesion, which may lead to failure of conservative treatment. Excision of the fractured ring apophysis is suggested in addition to discectomy when the canal space is occupied.

Adolescent↗

PubMed2004

Leiomyoma of the hand mimicking a pearl ganglion.

Leiomyomas rarely occur in the hand. To our knowledge, there have been no reports of a leiomyoma of the hand mimicking a pearl ganglion in the English literature. We report such a case with a leiomyoma of the right third finger in a 59-year-old woman. The tumor was excised together with the underlying sheet of tissue. The pathology revealed that the tumor was linked to the underlying structure of a vascular wall by a stalk of tumor tissue. This report serves to remind clinicians to include leiomyoma in the differential diagnosis when encountering a 'ganglion-like lesion'. Also, this report demonstrates the link between a leiomyoma and its underlying origin.

Diagnosis, Differential↗

PubMed2003

Acute hematogenous osteomyelitis and septic arthritis in children.

This retrospective study analyzed the clinical, bacteriological, and radiological features of pediatric patients with acute hematogenous osteomyelitis and septic arthritis. Eighty-four patients with septic arthritis and 39 with acute hematogenous osteomyelitis were enrolled. Their age ranged from 13 days to 17 years. In patients with septic arthritis, the hip joint was the most often infected site. The tibia was the most often involved site in acute hematogenous osteomyelitis. A bacteriological diagnosis was established in 78 (63%) patients. Overall, methicillin-susceptible Staphylococcus aureus (36 cases) was the most common causative organism identified, followed by methicillin-resistant S. aureus (10 cases). The median duration of antibiotic therapy was 33 days. Serum bactericidal titers were obtained for 19 (15%) of the 123 patients. The median duration of hospitalization and antibiotic treatment was not significantly different between patients with and without serum bactericidal titer testing. More patients without serum bactericidal titer testing had symptom relapse which required re-admission for further treatment. In conclusion, the incidence of methicillin-resistant S. aureus as a cause of bone and joint infections has been increasing. Serum bactericidal titer is valuable for the management of patients receiving sequential therapy for acute hematogenous osteomyelitis and septic arthritis.

Acute Disease↗

PubMed2003

Acute primary hematogenous osteomyelitis of the epiphysis: report of two cases.

Acute primary infection of the epiphysis is uncommon. We present 2 cases of acute osteomyelitis of the distal femoral epiphysis. They were not diagnosed until 10 days and 3 weeks, respectively, after the onset of symptoms. The epiphyseal infection spread into the knee joint, and surgical debridement was performed. The majority of reported cases in the medical literature are of bacterial etiology, and the most common pathogen is Staphylococcus aureus. We report a rare case which was infected by Salmonella enteritidis. Prompt diagnosis and early treatment are required to prevent further destruction and growth disturbance.

Acute Disease↗

PubMedDate not supplied

Laryngomalacia causing sleep apnea in an osteogenesis imperfecta patient.

Obstructive sleep apnea is rarely caused by laryngomalacia in adult patients. To our knowledge, laryngomalacia secondary to osteogenesis imperfecta inducing obstructive sleep apnea has not been reported. We present an adult osteogenesis imperfecta patient with obstructive sleep apnea. Oral examination demonstrated an extremely long epiglottis in the oral cavity. Fiberoptic nasopharyngoscopy revealed that the epiglottis and redundant mucosa of the arytenoids were drawn into the laryngeal inlet during inspiration. Supraglottoplasty with intraoral and laryngoscopic approach was carried out and resulted in marked decreases in snoring, sleep apnea, and daytime sleepiness. In this report, we describe a unique laryngeal manifestation inducing obstructive sleep apnea in an adult with brittle bone disease. The anomaly of laryngeal structure can be corrected by surgical intervention with good response in the sleep-disordered breathing.

Adult↗

PubMedDate not supplied

Extension splint for trigger thumb in children.

Sixty-two reducible trigger thumbs in 50 children with age from 0 to 4 years (mean, 1 year 11 months) were reviewed to study the effect of splinting. Thirty-one thumbs in 24 children received splinting for a mean of 11.7 weeks. The other 31 thumbs in 26 children were only observed. The results were categorized as cured, improved, or nonimproved. Follow-up was conducted after a mean of 20 months (age, 43 months). Result in the splinted group showed cured in 12 thumbs, improved in 10 thumbs, and nonimproved in 9 thumbs, whereas in the observed group, result showed 4, 3, and 24, respectively. Splinting results in 71% trigger thumbs cured or improved that is better than observation alone. The subsequent surgical release for the nonimproved trigger thumbs after splinting still had excellent results. Because surgical release for trigger thumb is not urgent, we suggest extension splinting to be a treatment option before the elective surgery.

Child, Preschool↗