Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 41
Filter
1.
DNA Cell Biol ; 42(10): 638-644, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37851024

ABSTRACT

Developmental dysplasia of the hip (DDH), characterized by acetabular deformity that manifests from loose ligaments to complete dislocation of the hip, can cause notable pain and dysfunction and lead to hip dislocation, secondary fractures, scoliosis, and osteoarthritis of hip. Variants in FLNA may produce a spectrum of malformations in multiple organs, especially the skeleton. This study aimed to identify the genetic etiologies of DDH patients and provide genetic testing information for further diagnosis and treatment of DDH. We recruited a Chinese woman with DDH and her family members. Whole-exome sequencing was used to identify the patient's genetic etiologies. Protein models were used to analyze the pathogenic mechanism of the identified variants. A novel variant (c.3493T>G, p.C1165G) of FLNA was detected. The structural models of the mutant FLNA protein indicated that the variant would lose its sulfhydryl side chain and destroy the attraction between benzene rings and sulfhydryl. We reported a novel variant (c.3493T>G, p.C1165G) of FLNA in a Chinese woman with DDH. Our research outcome enriches the gene pool for hip dysplasia and emphasizes the pathogenicity of sulfhydryl side chain disruption in FLNA.


Subject(s)
Developmental Dysplasia of the Hip , Hip Dislocation, Congenital , Female , Humans , Benzene , Developmental Dysplasia of the Hip/complications , Developmental Dysplasia of the Hip/genetics , Filamins/genetics , Genetic Testing , Hip Dislocation, Congenital/genetics , Hip Dislocation, Congenital/complications , Hip Dislocation, Congenital/diagnosis , Retrospective Studies
2.
JPRAS Open ; 37: 109-120, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37520027

ABSTRACT

Background: In microsurgical tissue transfer, skin flap transplantation is frequently used to heal the surface of a wound. Effective microcirculation surveillance of the skin flap is crucial. However, with traditional monitoring methods-that is, clinical observation-vascular crisis can still occur, thereby impairing postoperative recovery. A smartphone application is required to assist health care professionals in the standardized collection of flap perfusion parameters for flap management. Methods: The Vascular Crisis Prewarning Application was created using a design science research methodology that prioritizes users and problems. The system usability scale was used to assess the application's usability among medical practitioners. The application was used at the clinic from December 2020 to September 2022. The unplanned return to the operating room, time to diagnose vascular crisis, and flap survival rate were compared with and without the application. Results: The application consisted of 5 modules: patient addition and basic information entry, flap labeling, flap observation, crisis warning, and case archiving. The average rating for the application's usability among medical practitioners was 97.95 score (SD 2.36). With the application, the time to detect vascular crisis reduced from 26.71 to 16.26 h (P < 0.001), the unplanned return to the operation room increased from 8.18% to 10.24% (P = 0.587), and the flap survival rate went from 94.55% to 99.21% (P = 0.083). Conclusions: An easy-to-use flap perfusion monitoring and prewarning application for medical practitioners was produced using a user-centered development method. The application provided a more standardized and accurate platform for data collection in flap management and reduced the time to detect vascular crisis. Larger cohort studies are required in the future to better assess the full potential of the application.

3.
J Orthop Surg Res ; 18(1): 349, 2023 May 11.
Article in English | MEDLINE | ID: mdl-37170110

ABSTRACT

BACKGROUND: Traumatic tibial defect complicated with soft tissue defect is a difficult problem in clinic. Vascularized iliac crest bone flap (VIBF) and Ilizarov bone transport are effective methods to treat tibial defects with limited defect length, which most need to be explored accordingly. METHODS: In this study, a total of 68 patients with traumatic tibial defect (ranging from 4 to 10 cm) and large soft tissue defect were collected retrospectively. The soft tissue defects were repaired by latissimus dorsal musculocutaneous flap (LD), anterolateral thigh flap (ALTF) or both. Thirty-three cases were treated with vascularized iliac crest bone flap transplantation and 35 cases were treated with Ilizarov bone transport. Intraoperative and postoperative follow-up data (including operation time, blood loss, bone union time, external fixation time, external fixation index, complication rate, reoperation rate, and functional evaluation) were recorded, and comparative analysis was performed. RESULTS: The median follow-up time was 32 months. Compared with Ilizarov group, the VIBF group exhibited statistically faster bone union time (6.3 ± 1.0 vs. 18.2 ± 3.0 months). Moreover, the VIBF group showed shorter EFT (7.3 ± 1.0 vs. 19.2 ± 3.0 months) and a better EFI (34.8 ± 9.2 vs. 84.2 ± 23.7 days/cm). The excellent and good rate of lower limb appearance evaluation in VIBP group was significantly better than that in Ilizarov group. The complication rate and reoperation rate were significantly higher in Ilizarov group. CONCLUSION: In summary, compared with Ilizarov bone transport, VIBP has the advantages of faster healing, shorter external fixation time, lower complication and reoperation rate, and better appearance within the limited defect length. Ilizarov bone transport is still preferred when the defect length exceeds the maximum repair length of the iliac flap. The daily handling required by bone transport process is painful. LEVEL OF EVIDENCE: III, Case-control study.


Subject(s)
Ilizarov Technique , Tibial Fractures , Humans , Tibia/surgery , Tibial Fractures/diagnostic imaging , Tibial Fractures/surgery , Ilium , Retrospective Studies , Case-Control Studies , Treatment Outcome
4.
Front Surg ; 10: 926109, 2023.
Article in English | MEDLINE | ID: mdl-37066005

ABSTRACT

Background: Legg-Calvé-Perthes disease (LCPD) is a juvenile form of ischemic femoral head osteonecrosis affecting children. The lack of effective and timely treatment results in severe sequelae in children (especially older ones). Although LCPD has been widely studied, little is known about its etiology. As a result, its clinical management is still challenging. This study will investigate the clinical and radiological results of patients older than 6 years and treated with pedicled iliac bone flap grafting for LCPD. Materials and methods: A total of 13 patients (13 hips) with late presentation of LCPD were treated with pedicled iliac bone flap grafting. Of the 13 patients, 11 were male and 2 were female. The average age of the patients was 8.4 years (range 6-13). Preoperational radiographs and pain scores were analyzed for lateral pillar classification and the Oucher scale. The final follow-up radiograph was classified using a modified Stulberg classification. Limping, extremity length inequality, and range of motion were clinically assessed. Results: The average follow-up of the patients was 70 months (range 46-120). During the surgery, seven hips were found to be lateral pillar grade B, two were grade B/C, and four were grade C. In the final examination, 12 hips were evaluated as good (Stulberg class I or II) and one as medium (Stulberg class III). There was limb shortening in one patient who was Stulberg class III. There was a significant difference between the preoperational and postoperational radiographic values and the Ocher scale, regardless of the surgical staging (P < 0.05). Conclusions: Pedicled iliac bone flap graft can treat LCPD accompanied by pain and lateral pillar stage B, B/C, and C in children over 6 years. Level of Evidence: Level IV-case series.

5.
J Plast Reconstr Aesthet Surg ; 75(10): 3751-3760, 2022 10.
Article in English | MEDLINE | ID: mdl-36068137

ABSTRACT

BACKGROUND: This study aimed to assess the feasibility and effectiveness of using combined transfer by two or three large skin flaps to cover a single extensive and multiplanar wound on the foot and ankle to achieve full coverage of the wound and primary donor-site closure. PATIENTS AND METHODS: Seventeen patients with extensive wounds around their foot and ankle were treated. The flap could either be anterolateral femoral perforator (ALTP) flap, deep inferior epigastric artery perforator (DIEP) flap, or thoracodorsal artery perforator (TDAP) flap. According to the dimensions and shape of the wound and the availability of donor sites, we classified the reconstruction into three different types. Based on the type, the soft-tissue defect was divided into two or three parts to guide the corresponding perforator skin flaps to be harvested within the maximum width and length of the donor sites. RESULTS: All 17 patients were successfully reconstructed, with a total of 35 flaps in 37 paddles. Vascular compromise occurred in one patient and was saved by venous thrombectomy. In total, four flaps experienced a partial loss and were treated either conservatively or by a skin graft. No ulceration due to abrasion occurred on any flap during the entire follow-up. All donor sites were directly closed and healed uneventfully, except for one needing coverage by a skin graft and another experiencing dehiscence and scar widening. CONCLUSION: Combined transfer by several skin perforator flaps is a flexible reconstructive option for resurfacing extensive and multiplanar wounds on the foot and ankle. The benefit lies in a well-reconstructed contour, an anti-frictional property, a permission of a normal shoe wearing in the reconstructed foot, and meanwhile a primary closure on donor site.


Subject(s)
Perforator Flap , Plastic Surgery Procedures , Soft Tissue Injuries , Ankle/surgery , Humans , Perforator Flap/blood supply , Plastic Surgery Procedures/methods , Retrospective Studies , Skin Transplantation/methods , Soft Tissue Injuries/surgery , Treatment Outcome
6.
Injury ; 53(6): 2333-2339, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35190183

ABSTRACT

INTRODUCTION: To maximize the morpho-functional recovery on the totally degloved foot while not excessively introducing the technical complexity of microsurgery, we present a regionalized reconstruction, in which the highly functional subunit (weight-bearing area and ankle-around area) is covered by free skin flaps, and the less functional subunit (dorsum) by skin graft. METHODS: From June 2011 to December 2017, 10 patients who had total degloving injury on foot underwent reconstruction based on regionalized coverage. As the shape of combined flaps resemble a boat sock in high-heeled shoe, we name it as "Boat Sock" flaps. Complication like vascular compromise, partial or total flap loss, Equinus deformity and delayed plantar ulceration were documented elaborately. Secondary surgeries were also recorded. Foot function was evaluated by Maryland foot score at the last follow up. RESULTS: Twenty-one free skin flaps were used for "Boat sock" coverage on highly functional subunits. Flap dimension ranged from 19×5cm2 to 28×8cm2 (mean 151cm2). Among these flaps, one experienced partial necrosis which was treated conservatively, one experienced burn due to lack of protective sensation. Complication like Equinus deformity or delayed plantar ulceration did not occur. Secondary surgery included debulking on two cases. Mean Maryland foot score was 90.4. CONCLUSION: This regionalized coverage by "Boat Sock" flaps and skin graft could serve as a standard procedure for reconstruction of the totally degloved foot, by offering the benefits of multi-plane coverage, a well-contoured ankle, an abrasion-tolerant planta, and eclectic surgical complexities.


Subject(s)
Equinus Deformity , Foot Injuries , Free Tissue Flaps , Plastic Surgery Procedures , Soft Tissue Injuries , Equinus Deformity/surgery , Foot Injuries/surgery , Humans , Plastic Surgery Procedures/methods , Ships , Skin Transplantation , Soft Tissue Injuries/surgery
8.
Front Genet ; 12: 705973, 2021.
Article in English | MEDLINE | ID: mdl-34456975

ABSTRACT

Waardenburg syndrome (WS) is a group of autosomal-dominant hereditary conditions with a global incidence of 1/42,000. WS can be categorized into at least four types: WS1-4, and these are characterized by heterochromia iridis, white forelock, prominent nasal root, dystopia canthorum, hypertrichosis of the medial part of the eyebrows, and deaf-mutism. WS3 is extremely rare, with a unique phenotype (upper limb abnormality). Heterozygous mutations of PAX3 are commonly associated with WS1, whereas partial or total deletions of PAX3 are often observed in WS3 cases. Deletions, together with insertions, translocations, inversions, mobile elements, tandem duplications, and complexes, constitute structural variants (SVs), which can be fully and accurately detected by third-generation sequencing (TGS), a new generation of high-throughput DNA sequencing technology. In this study, after failing to identify the causative gene by Sanger sequencing, SNP-array, and whole-exome sequencing (WES), we finally detected a heterozygous gross deletion of PAX3 (10.26kb, chr2: 223153899-223164405) in a WS family by TGS. Our description would enrich the genetic map of WS and help us to further understand this disease. Our findings also demonstrated the value of TGS in clinical genetics researches.

9.
Mol Syndromol ; 12(2): 96-100, 2021 Apr.
Article in English | MEDLINE | ID: mdl-34012378

ABSTRACT

Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 (EXT1) and exostosin glycosyl transferase-2 (EXT2) were the main cause of MO. In this study, we enrolled 2 families with MO. Sanger sequencing revealed 2 novel frameshift mutations - c.1432_1433insCCCCCCT; p.Lys479Profs*44 and c.1431_1431delC; p.S478PfsX10 - in the EXT1 gene detected in 2 families, respectively. Both novel mutations, located in the conserved domain of EXT1 and predicted to be disease causing by informatics programs, were absent in our 200 control cohorts and other public databases. Our study expanded the spectrum of EXT1 mutations and contributed to genetic diagnosis and counseling of patients with MO.

10.
Cell Death Dis ; 12(4): 340, 2021 04 01.
Article in English | MEDLINE | ID: mdl-33795657

ABSTRACT

Osteoporosis is the most prevailing primary bone disease and a growing health care burden. The aim of this study was to clarify the functional roles and mechanisms of the circ-ITCH regulating osteogenic differentiation of osteoporosis. Circ-ITCH and yes-associated protein 1 (YAP1) levels were downregulated, but the miR-214 level was upregulated in osteoporotic mice and patients. Knockdown of circ-ITCH inhibited the alkaline phosphatase (ALP) activity, mineralized nodule formation, and expression of runt-related transcription factor 2 (RUNX2), osteopontin (OPN), and osteocalcin (OCN) during osteogenic induction. Furthermore, miR-214 was a target of circ-ITCH, knockdown of miR-214 could impede the regulatory effects of sh-circ-ITCH on osteogenic differentiation. Moreover, miR-214 suppressed hBMSCs osteogenic differentiation by downregulating YAP1. Finally, in vivo experiments indicated that overexpression of circ-ITCH could improve osteogenesis in ovariectomized mice. In conclusion, circ-ITCH upregulated YAP1 expression to promote osteogenic differentiation in osteoporosis via sponging miR-214. Circ-ITCH could act as a novel therapeutic target for osteoporosis.


Subject(s)
Adaptor Proteins, Signal Transducing/metabolism , Cell Differentiation/physiology , MicroRNAs/metabolism , Osteoporosis/metabolism , Transcription Factors/metabolism , Animals , Cells, Cultured , Humans , Mesenchymal Stem Cells/metabolism , Mice , MicroRNAs/genetics , Osteoblasts/metabolism , Osteogenesis/genetics , Osteogenesis/physiology , YAP-Signaling Proteins
11.
Front Cell Dev Biol ; 9: 781388, 2021.
Article in English | MEDLINE | ID: mdl-35087831

ABSTRACT

Background: Preaxial polydactyly (PPD) is one of the most common developmental malformations, with a prevalence of 0.8-1.4% in Asians. PPD is divided into four types, PPD I-IV, and PPD I is the most frequent type. Only six loci (GLI1, GLI3, STKLD1, ZRS, pre-ZRS, and a deletion located 240 kb from SHH) have been identified in non-syndromic PPD cases. However, pathogenesis of most PPD patients has never been investigated. This study aimed to understand the genetic mechanisms involved in the etiology of PPD I in a family with multiple affected members. Methods: We recruited a PPD I family (PPD001) and used stepwise genetic analysis to determine the genetic etiology. In addition, for functional validation of the identified GLIS1 variant, in vitro studies were conducted. GLIS1 variants were further screened in additional 155 PPD cases. Results: We identified a GLIS1 variant (NM_147193: c.1061G > A, p.R354H) in the PPD001 family. In vitro studies showed that this variant decreased the nuclear translocation of GLIS1 and resulted in increased cell viability and migration. RNA sequencing revealed abnormal TBX4 and SFRP2 expression in 293T cells transfected with mutant GLIS1. Additionally, we identified a GLIS1 variant (c.664G > A, p.D222N) in another PPD case. Conclusion: We identified two GLIS1 variants in PPD I patients and first linked GLIS1 with PPD I. Our findings contributed to future molecular and clinical diagnosis of PPD and deepened our knowledge of this disease.

12.
Injury ; 52(6): 1356-1362, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33051078

ABSTRACT

INTRODUCTION: Coverage of circumferential wounds on limbs is a challenging reconstructive job. Here, we propose a skin flap-based algorithm to reconstruct circumferential wound with the chain-linked design and combined transplantation of ALTP and DIEP flap, which could achieve full-coverage and simultaneously primary donor-site closure. PATIENT AND METHODS: From December 2007 to December 2018, 14 patients with circumferential would on upper or lower limbs underwent reconstruction with ALTP or DIEP flap, by the technique of combined transplantation or chain-linked design, or both. The wound was classified into five different types according to the width compared to the donor site (overall magnitudes and regularity), which was separately reconstructed by five different wound decomposition and corresponding flap design. Flap survivorship, complication on recipient or donor site and any secondary surgeries have been recorded. RESULTS: 14 patients were successfully treated with 22 flaps, including seven patients reconstructed with one flap (4 bi-pedicled, 2 tri-pedicled), 6 patients reconstructed with two flaps (1 in mono-pedicled, 5 in multi-pedicled), one with 3 flaps and skin grafts. Only one donor site was not directly closed, and one experienced dehiscence but finally healed. All flaps survived uneventfully but three had minor edge necrosis and later treated with skin graft. CONCLUSION: The algorithm is practical in circumferential wound resurfacing on limbs for allowing flexible design, sufficient coverage, and low donor site morbidity.


Subject(s)
Mammaplasty , Perforator Flap , Plastic Surgery Procedures , Soft Tissue Injuries , Algorithms , Humans , Skin Transplantation , Soft Tissue Injuries/surgery , Treatment Outcome
14.
BMC Surg ; 20(1): 216, 2020 Oct 02.
Article in English | MEDLINE | ID: mdl-33008361

ABSTRACT

The success of free vascularized fibular bone graft (FVFBG) has accelerated the osteo reconstruction which results from trauma, resection of a tumor or an infectious bone segment, or correction of congenital deformity. But the complication behind should not be overlooked. The failure could necessitate a second surgery, which prolong the rehabilitation period and produce further health cost. Worst, the patients may suffer a permanent impaired ankle function, or a sustained morpho-functional loss on reconstructive area which are hard to save. To provide an overview of the complication related to reconstruction by FVFBG, a narrative review is conducted to identify the complications including their types and rates, the contributing factors, the approaches to measure and the techniques to avoid. Methodologically, by quick research on Pubmed and abstract reading of reviews, we characterize five reconstructive areas where FVFBG were most frequently applied: extremities, mandible, spine, osteonecrosis of femoral head, and penile. Following, the complications on different reconstructive areas are retrieved, studied and presented in five (or more specifically, six) separate sections. By the way, meaningful difference between FVFBG and other bone flap was presented in a few words if necessary. Donor-site morbidities were studied and summarized as a whole. In these literatures, the evidences documented on limb and mandibular reconstruction have the fullest detail, followed by the spine and lastly the penile. In conclusion, FVFBG, though a mature technique, needs further deep and comprehensive study and maybe device-based assistance to achieve better reconstructive effect and minimize donor-site damage.


Subject(s)
Bone Transplantation , Fibula/surgery , Plastic Surgery Procedures , Accidental Falls , Aged , Fear , Humans , Prospective Studies
15.
Front Genet ; 11: 492, 2020.
Article in English | MEDLINE | ID: mdl-32528525

ABSTRACT

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal recessive disease, which manifests as the severely impaired pain sensitivity, autonomic disturbances, distal myopathy, spontaneous or surgical amputations, and sometimes early death. Mutations in DST have been identified as the cause of HSAN-VI. DST encodes dystonin, a member of the plakin protein family that is involved in cytoskeletal filament networks. Dystonin has seven major isoforms in nerve, muscle, and epithelium. Material and Methods: The present study investigated a Chinese family with HSAN and explored potential pathogenic variants using whole-exome sequencing (WES). Variants were screened and filtered through bioinformatics analysis and prediction of variant pathogenicity. Co-segregation analysis was subsequently conducted. Results: We identified compound heterozygous variants of DST (c.3304G>A, p.V1102I and c.13796G>A, p.R4599H) in two patients. Conclusion: We reported on a Chinese family with HSAN-VI family and detected the disease-causing variants. Our description expands the spectrum of known DST variants and contributes to the clinical diagnosis of HSAN-VI.

16.
Biosci Rep ; 40(6)2020 06 26.
Article in English | MEDLINE | ID: mdl-32478388

ABSTRACT

Proximal symphalangism (SYM1) is an autosomal dominant disorder manifested by ankylosis of the proximal interphalangeal joints of fingers, carpal and tarsal bone fusion, and conductive hearing loss in some cases. Herein, we clinically diagnosed a Chinese patient with fusions of the bilateral proximal interphalangeal joints in the 2-5 digits without conductive hearing loss. Family history investigation revealed that his mother and grandfather also suffered from SYM1. Whole exome sequencing was performed to detect the genetic lesion of the family. The candidate gene variants were validated by Sanger sequencing. By data filtering, co-segregation analysis and bioinformatics analysis, we highly suspected that an unknown heterozygous frameshift variant (c.635_636insG, p.Q213Pfs*57) in NOG was responsible for the SYM1 in the family. This variant was predicted to be deleterious and resulted in a prolonged protein. This finding broadened the spectrum of NOG mutations associated with SYM1 and contributed to genetic diagnosis and counseling of families with SYM1.


Subject(s)
Carrier Proteins/genetics , Finger Joint/abnormalities , Frameshift Mutation , Joint Diseases/congenital , Asian People , Child , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Heredity , Heterozygote , Humans , Joint Diseases/diagnosis , Joint Diseases/ethnology , Joint Diseases/genetics , Male , Pedigree , Phenotype , Whole Genome Sequencing
18.
Acta Biomater ; 111: 208-220, 2020 07 15.
Article in English | MEDLINE | ID: mdl-32447063

ABSTRACT

Osteonecrosis of the femoral head (ONFH) frequently occurs after glucocorticoid (GC) treatment. Extracellular vesicles (EVs) are important nano-sized paracrine mediators of intercellular crosstalk. This study aimed to determine whether EVs from human urine-derived stem cells (USC-EVs) could protect against GC-induced ONFH and focused on the impacts of USC-EVs on angiogenesis and apoptosis to explore the mechanism by which USC-EVs attenuated GC-induced ONFH. The results in vivo showed that the intravenous administration of USC-EVs at the early stage of GC exposure could rescue angiogenesis impairment, reduce apoptosis of trabecular bone and marrow cells, prevent trabecular bone destruction and improve bone microarchitecture in the femoral heads of rats. In vitro, USC-EVs reversed the GC-induced suppression of endothelial angiogenesis and activation of apoptosis. Deleted in malignant brain tumors 1 (DMBT1) and tissue inhibitor of metalloproteinases 1 (TIMP1) proteins were enriched in USC-EVs and essential for the USC-EVs-induced pro-angiogenic and anti-apoptotic effects in GC-treated cells, respectively. Knockdown of TIMP1 attenuated the protective effects of USC-EVs against GC-induced ONFH. Our study suggests that USC-EVs are a promising nano-sized agent for the prevention of GC-induced ONFH by delivering pro-angiogenic DMBT1 and anti-apoptotic TIMP1. STATEMENT OF SIGNIFICANCE: This study demonstrates that the intravenous injection of extracellular vesicles from human urine-derived stem cells (USC-EVs) at the early stage of glucocorticoid (GC) exposure efficiently protects the rats from the GC-induced osteonecrosis of the femoral head (ONFH). Moreover, this study identifies that the promotion of angiogenesis and inhibition of apoptosis by transferring pro-angiogenic DMBT1 and anti-apoptotic TIMP1 proteins contribute importantly to the USC-EVs-induced protective effects against GC-induced ONFH. This study suggests the promising prospect of USC-EVs as a new nano-sized agent for protecting against GC-induced ONFH, and the potential of DMBT1 and TIMP1 as the molecular targets for further augmenting the protective function of USC-EVs.


Subject(s)
Extracellular Vesicles , Osteonecrosis , Animals , Calcium-Binding Proteins , Cell Proliferation , DNA-Binding Proteins , Femur Head , Glucocorticoids , Humans , Rats , Stem Cells , Tissue Inhibitor of Metalloproteinase-1 , Tumor Suppressor Proteins
19.
J Gene Med ; 21(10): e3122, 2019 10.
Article in English | MEDLINE | ID: mdl-31420900

ABSTRACT

BACKGROUND: Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63. The phenotypes of TP63-related disorders broadly involve ectodermal dysplasias, acromelic malformation and orofacial cleft. SHFM and hypodontia are prominent clinical manifestations of TP63-related disorders. METHODS: The present study investigated a family with SHFM and hypodontia; determined the sequences of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1 and FGFR1; and performed single nucleotide polymorphism-array analysis. We detected the mutation by multiple sequence alignments and a bioinformatic prediction. RESULTS: We identified a novel missense mutation of TP63 (c.1010G>T; R337L) in the family without mutations of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1, FGFR1 and copy number variants causing SHFM. CONCLUSIONS: A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia. The identification of this mutation expands the spectrum of known TP63 mutations and also may contribute to novel approaches for the genetic diagnosis and counseling of families with TP63-related disorders.


Subject(s)
Alleles , Amino Acid Substitution , Anodontia/diagnosis , Anodontia/genetics , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/genetics , Mutation , Transcription Factors/genetics , Tumor Suppressor Proteins/genetics , Adult , Child , Computational Biology , DNA Mutational Analysis , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Pedigree , Phenotype , Polymorphism, Single Nucleotide , Radiography , Syndrome
20.
Injury ; 50(8): 1489-1494, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31300162

ABSTRACT

BACKGROUNDS: Due to the delicate tissue, small blood vessels and incomplete development of interarticular ligaments, skin and soft-tissue defects of the foot and ankle in pediatric patients remain a challenge for orthopedic and plastic surgeons. Anterolateral thigh perforator (ALTP) flap and deep inferior epigastric perforator (DIEP) flap are the most commonly used flaps for the repair of lower-extremity soft-tissue defects. The literature contains a shortage of evidence involving the differences between ALTP and DIEP flaps in the reconstruction of young patients with complex foot and ankle defects. This study was designed to determine which type of flap is better for foot and ankle repair in pediatric patients. METHODS: From January 2004 to January 2018, 79 children younger than 14 years treated with DIEP flap (41 cases) or ALTP flap (38 cases) for composite defects of the feet and ankles were retrospectively investigated. The two groups were homogeneous in terms of age, the location of the defect, etiology, and flap area. Complications, scarring, cosmetic appearance, flap sensory recovery, and functional outcome were analyzed, and statistical analysis was performed. RESULTS: The ALTP group had shorter operation time (155.0 ±â€¯12.0 min vs 212.2 ±â€¯23.9 min), flap harvested time (39.6 ±â€¯5.1 min vs 57.2 ±â€¯10.4 min), and operative blood loss (143.4 ±â€¯23.7 ml vs 170.7 ±â€¯44.7 ml) than the DIEP group (P <  0.05). In short-term follow-up, ALTP group showed a lower flap necrosis rate (5.3% vs 24.4%) and vascular insufficiency rate (2.6% vs 19.5%) than DIEP group (P <  0.05). In long-term follow-up, ALTP group showed a lower late complication rate and better cosmetic, functional, scar outcomes than DIEP group (P <  0.05). CONCLUSIONS: The study showed that an ALTP flap may brings better results than a DIEP flap in terms of short- and long-term complications, scarring, and morpho-functional outcomes for pediatric patients undergoing reconstruction of foot and ankle defects.


Subject(s)
Ankle Injuries/surgery , Foot Injuries/surgery , Graft Survival/physiology , Perforator Flap/blood supply , Plastic Surgery Procedures , Soft Tissue Injuries/surgery , Ankle Injuries/physiopathology , Child, Preschool , Debridement , Female , Foot Injuries/physiopathology , Humans , Male , Plastic Surgery Procedures/methods , Retrospective Studies , Skin Transplantation/methods , Soft Tissue Injuries/physiopathology , Thigh/surgery , Treatment Outcome , Wound Healing/physiology
SELECTION OF CITATIONS
SEARCH DETAIL
...