Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome.

Polydactyly and syndactyly are digital abnormalities in limb-associated birth defects usually caused by genetic disorders. In this study, a five-generation Chinese pedigree was found with triphalangeal thumb polysyndactyly syndrome (TPTPS), showing an autosomal dominant pattern of inheritance. We utilized linkage analysis and whole genome sequencing (WGS) for the genetic diagnosis of this pedigree. Linkage analysis was performed using a genome-wide single nucleotide polymorphism (SNP) chip and three genomic regions were identified in chromosomes 2, 6, and 7 with significant linkage signals. WGS discovered a copy number variation (CNV) mutation caused by a large duplication region at the tail of chromosome 7 located in exons 1-5 of the LMBR1 gene, including the zone of polarizing activity regulatory sequence (ZRS), with a length of approximately 180 kb. A real-time polymerase chain reaction (PCR) assay confirmed the duplication. The findings of our study supported the notion that large duplications including the ZRS caused TPTPS. Our study showed that linkage analysis in combination with WGS could successfully identify the disease locus and causative mutation in TPTPS, which could help elucidate the molecular mechanisms and genotype-phenotype correlations in polydactyly.

Comparison of Wrist Arthroscopy, Small Incision Surgery, and Conventional Surgery for the Treatment of Carpal Tunnel Syndrome: A Retrospective Study at a Single Center.

BACKGROUND This study aimed to compare the efficacy and safety of wrist arthroscopy, small incision surgery, and conventional open carpal tunnel release surgery for the treatment of carpal tunnel syndrome. MATERIAL AND METHODS Patients with carpal tunnel syndrome (n=111) were treated with wrist arthroscopy (n=33), small incision surgery (n=40), and conventional open carpal tunnel release surgery (n=38). Incision length, duration of surgery, degree of intraoperative bleeding, recovery time, and findings at postoperative follow-up at one month, three months, and six months after surgery were recorded. Assessment included the two-point discrimination test, the grip and pinch strength test, the visual analog scale (VAS) score for pain, the Levine questionnaire, and Kelly's therapeutic evaluation. RESULTS Incision length, duration of surgery, intraoperative bleeding, and recovery time were significantly reduced in the wrist arthroscopy group and the small incision surgery group compared with the conventional surgery group (p<0.05). There were no significant differences in the two-point discrimination or grip and pinch strength test (p>0.05). Postoperatively, at one month, the VAS score, Levine score, and Kelly's therapeutic evaluation in the wrist arthroscopy group and the small incision surgery group were significantly lower compared with the conventional surgery group (p<0.05). Scar length and scar tenderness in the conventional surgery group were significantly increased compared with the wrist arthroscopy group and the small incision surgery group (p<0.05). CONCLUSIONS Wrist arthroscopy, small incision surgery, and conventional open carpal tunnel release surgery were effective for the treatment of carpal tunnel syndrome, but conventional surgery resulted in more postoperative complications.

Evaluation of the efficacy of wrist arthroscopic surgery for aseptic necrosis of lunate bone.

OBJECTIVE: To explore the use of wrist arthroscopy for treatment of aseptic necrosis of lunate bone and its curative effect. METHODS: From March 2012 to January 2016, 12 patients with aseptic necrosis of lunate bone underwent necrotic lunate bone extirpation assisted by wrist arthroscopy, and the scaphocapitate joint treated with fusion-stabilization were selected. Among these patients, 10 patients were male and two patients were female. The age of these patients ranged from 25 to 42 years old, with an average age of 32 years old. These lesions were located in the right hand in eight patients, and in the left hand in four patients. Lichtman stage: stage IIIA in two patients, and stage IIIB in 10 patients. All patients were diagnosed by anterior lateral radiographs and magnetic resonance imaging (MRI). From the second day after the surgery, patients underwent active motion for the metacarpophalangeal joint and interphalangeal joints. When the X-ray film indicated that the fracture had healed, patients began to resume their daily activities and work. After surgery, the plain films of all planes, including the axial plane of the scaphoid, were taken every month, until fracture healing. All patients were followed up for a mean duration of 8 months, and the Mayo wrist score was used to assess the range of motion of the wrist joint and grip force during the follow-ups for objective function evaluation. RESULTS: Fracture healing was obtained in all patients within 9-12 weeks after the operation, and average healing time was 10 weeks. The duration of follow-up ranged between 6-14 months, and the mean duration was 8 months. According to the modified Mayo wrist score, the objective function of the wrist joint was evaluated as follows: flexion and extension range of the wrist joint was 40°-110°, with an average of 105°, which was 80% of that of the unaffected side. Radioulnar deviation was 45°-80°, with an average of 55°, which was 82% of that of the unaffected side. Grip force was 25-48 kg, with an average of 40 kg, which was 84% of that of the unaffected side. The modified Mayo wrist score was good in eight patients, acceptable in three patients, and poor in one patient. CONCLUSIONS: Wrist arthroscopy is an effective and feasible tool for the treatment of aseptic necrosis of the lunate bone, and the right kind of surgical procedure should be selected for different stages of the disease, and wrist arthroscopy is applied timely, in order to achieve the desired therapeutic effect.