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To compare clinical efficacy of scarf osteotomy and double metatarsal osteotomy(DMO) in treating moderate to severe hallux valgus.Fifty patients (81 feet) with moderate to severe hallux valgus deformity were treated from January 2017 to December 2019, and were divided into Scarf osteotomy (SO) group or DMO group according to different osteotomy methods. There were 26 patients (44 feet) in SO group, including 1 male and 25 females, aged from 48 to 65 years old with an average of (55.5±4.67) years old;18 patients (30 feet) with moderate and 8 patients (14 feet) with severe. There were 24 patients(37 feet) in DMO group, including 1 male and 23 females, aged from 45 to 62 years old with an average of (52.1±6.8) years old;there were 14 patients (24 feet) with moderate and 10 patients (13 feet) with severe. Hallux valgus angle (HVA), intermetatarsal angle (IMA), distal metatarsal articular angle (DMAA) and relative length of the first metatarsal(RLFM) on weight-bearing anteroposterior radiographs before and after operation were compared. American Orthopaedic Foot and Ankle Society (AOFAS) hallux, metatarsal, and interphalangeal joint scores was used for evaluate clinical effects. Weight bearing time and complications were observed.Fivty patients were followed up. The follow-up time in SO group ranged from 12 to 36 months with an average of(20.50±6.22) months and from 16 to 28 months with an avaerge of(19.80±2.44) months in DMO group while there was no significant difference between two groups(Both of Scarf osteotomy and the first metatarsal biplane osteotomy could effectively treat moderate to severe hallux valgus deformity, with similar imaging and clinical evaluation. However, the relative length of the first metatarsal bone in SO group was longer than that in DMO group after operation, and the time of weight bearing in Scarf osteotomy is earlier than that of double metatarsal osteotomy of the first metatarsal.

To explore the clinical effect of vacuum sealing drainage (VSD) technique andFrom November 2017 to April 2019, 21 patients (21 feet) with foot skin defect were treated with VSD technique andAll the 21 patients were followed up for 7 to 17 (10.8±2.7) months. There was no infection or nonunion in all patients. At the final follow-up, the skin margin of the healing site grew tightly, the skin was elastic, the texture was tough, the appearance was no obvious carbuncle. The time of wound healing was for 18 to 63 (41.2±13.3) days. Eight patients underwent stageⅡfixation or/and fusion, and all incisions healed by stageⅠ. According to Maryland's foot scoring, 9 cases got excellent results, 11 good, and 1 middle.VSD can effectively remove the necrotic tissue of the wound, provide a smooth drainage of the wound, combine with

Osteopetrosis is a rare genetically heterogeneous disorder of bone metabolism characterized by increased skeleton density. In the past, standard methods for genetic diagnosis of osteopetrosis have primarily been performed by candidate gene screening and positional cloning. However, these methods are time and labor consumptive; and the genetic basis of approximately 30% of the cases is yet to be elucidated. Here, we employed whole exome sequencing of two affected individuals from an osteopetrosis family to identify a candidate mutation in CLCN7 (Y99C). It was identified from a total of 1757 and 1728 genetic variations found in either patient, which were then distilled using filtering strategies and confirmed using Sanger sequencing. We identified this mutation in six family members, while not in population matched controls. This mutation was previously found in osteopetrosis patients by other researchers. Our evolutionary analysis also indicated that it is under extremely high selective pressure, and is likely to be critical for the correct function of ClC-7, and thus is likely to be the responsible cause of disease. Collectively, our data further indicated that mutation (Y99C) may be a cause of osteopetrosis, and highlights the use of whole exome sequencing as a valuable approach to identifying disease mutations in a cost and time efficient manner.

Background Punctate palmoplantar keratoderma (PPPK) is a rare autosomal dominant skin disorder characterised by numerous hyperkeratotic papules irregularly distributed on the palms and soles. To date, no causal gene for this disease has been identified. Methods We performed exome sequencing analysis of four affected individuals and two unaffected controls from one Chinese PPPK family where disease locus was mapped at 8q24.13-8q24.21 by our previous linkage analysis. Results We identified a novel heterozygous mutation in COL14A1 gene (c.4505C→T (p.Pro1502Leu)), which located within the linkage region that we previously identified for PPPK. The mutation was shared by the four affected individuals, but not for the two controls of the family. Sanger sequencing confirmed this mutation in another four cases from this family. This mutation was invisible in the normal controls of this family as well as the additional 676 unrelated normal controls and 781 patients with other disease. The shared COL14A1 mutation, p.Pro1502Leu, is a missense substitution at a highly conserved amino acid residue across multiple species. Conclusions The power of combining exome sequencing and linkage information in the study of genetics of autosomal dominant disorders, even in simplex cases, has been demonstrated. Our results suggested that COL14A1 would be a casual gene for PPPK, which was helpful for advancing us on understanding of the pathogenesis of PPPK.

Pure hair and nail ectodermal dysplasia (PHNED) is a congenital condition characterized by hypotrichosis and nail dystrophy. Autosomal-recessive PHNED has previously been mapped to chromosomal region 12q12-q14.1, which contains the type II hair keratin and HOXC clusters. Hoxc13-null mice are known to develop hair and nail defects very similar to those seen in human PHNED. We performed whole-exome sequencing in a consanguineous Chinese family affected by PHNED and identified a homozygous nonsense mutation (c.390CA [p.Tyr130(∗)]) in HOXC13 in all affected individuals. In an additional affected female from a consanguineous Afghan family, we found a 27.6 kb homozygous microdeletion involving the first exon of HOXC13. We examined HOXC13 expression in scalp specimen obtained from the index individual of the Chinese family and detected dramatically reduced mRNA levels in skin tissue and nearly absent protein staining in hair follicles, suggesting a mechanism of nonsense-mediated mRNA decay. We also observed markedly decreased expression of four HOXC13 target genes in the specimen. Taken together, our results demonstrate that loss-of-function mutations in HOXC13 cause autosomal-recessive PHNED and further highlight the importance of HOXC13 in hair and nail development.