Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly.

BACKGROUND: Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly. METHODS: We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. There was a total of 34 individuals (including their spouses) in the family and 11 individuals had polydactyly. The average age of the patients ranged from 7 months to 96 years. The characteristic feature of the malformation in these patients was described. Two patients underwent surgical resection for radial supernumerary thumbs. The Bilhout-Cloquet technique and On-top-plasty technique were used to reconstruct the nail and the joints. RESULTS: The patients in this family presented with thumb duplication and triphalangism in both hands, including a variety of deformities, such as triplication, triphalangism, hypoplasia, and symphalangism. Syndactyly and ulnar polydactyly were also frequently observed. Two patients who underwent surgical treatment showed good hand and thumb function at the 8- and 2-year post-operative follow-up, respectively. CONCLUSIONS: The present study reported various mixed phenotypes including triplication, triphalangism, hypoplasia, and symphalangism within the same family which may represent a rare type of polydactyly. Surgical resection of extra digits to achieve mobility of the thumb is the main treatment option for radial polydactyly. Given the ulnar thumb is better developed, the radial thumb is typically resected in patients with radial polydactyly. These reconstructive principles are fit for this Chinese family as well.

Structural and biological investigation of chitosan/hyaluronic acid with silanized-hydroxypropyl methylcellulose as an injectable reinforced interpenetrating network hydrogel for cartilage tissue engineering.

Cartilage damage continues to pose a threat to humans, but no treatment is currently available to fully restore cartilage function. In this study, a new class of composite hydrogels derived from water-soluble chitosan (CS)/hyaluronic acid (HA) and silanized-hydroxypropyl methylcellulose (Si-HPMC) (CS/HA/Si-HPMC) has been synthesized and tested as injectable hydrogels for cartilage tissue engineering when combined without the addition of a chemical crosslinking agent. Mechanical studies of CS/HA and CS/HA/Si-HPMC hydrogels showed that as Si-HPMC content increased, swelling rate and rheological properties were higher, compressive strength decreased and degradation was faster. Our results demonstrate that the CS and HA-based hydrogel scaffolds, especially the ones with 3.0% (w/v) Si-HPMC and 2.5/4.0% (w/v) CS/HA, have suitable physical performance and bioactive properties, thus provide a potential opportunity to be used for cartilage tissue engineering. In vitro studies of CS/HA and CS/HA/Si-HPMC hydrogels encapsulated in chondrocytes have shown that the proper amount of Si-HPMC increases the proliferation and deposition of the cartilage extracellular matrix. The regeneration rate of the CS/HA/Si-HPMC (3%) hydrogel reached about 79.5% at 21 days for long retention periods, indicating relatively good in vivo bone regeneration. These CS/HA/Si-HPMC hydrogels are promising candidates for tissue compatibility injectable scaffolds. The data provide proof of the principle that the resulting hydrogel has an excellent ability to repair joint cartilage using a tissue-engineered approach.RESEARCH HIGHLIGHTSAn injectable hydrogel based on CS/HA/Si-HPMC composites was developed.The CS/HA/Si-HPMC hydrogel displays the tunable rheological with mechanical properties.The CS/HA/Si-HPMC hydrogel is highly porous with high swelling and degradation ratio.Increasing concentration of Si-HPMC promote an organized network in CS/HA/Si-HPMC hydrogels.Injectable CS/HA/Si-HPMC hydrogels have a high potential for cartilage tissue engineering.

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.

Use of nerve elongator to repair short-distance peripheral nerve defects: a prospective randomized study.

Repair techniques for short-distance peripheral nerve defects, including adjacent joint flexion to reduce the distance between the nerve stump defects, "nerve splint" suturing, and nerve sleeve connection, have some disadvantages. Therefore, we designed a repair technique involving intraoperative tension-free application of a nerve elongator and obtained good outcomes in the repair of short-distance peripheral nerve defects in a previous animal study. The present study compared the clinical outcomes between the use of this nerve elongator and performance of the conventional method in the repair of short-distance transection injuries in human elbows. The 3-, 6-, and 12-month postoperative follow-up results demonstrated that early neurological function recovery was better in the nerve elongation group than in the conventional group, but no significant difference in long-term neurological function recovery was detected between the two groups. In the nerve elongation group, the nerves were sutured without tension, and the duration of postoperative immobilization of the elbow was decreased. Elbow function rehabilitation was significantly better in the nerve elongation group than in the control group. Moreover, there were no security risks. The results of this study confirm that the use of this nerve elongator for repair of short-distance peripheral nerve defects is safe and effective.