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1.
J Hand Surg Asian Pac Vol ; 29(2): 140-147, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38494166

ABSTRACT

Background: The long axis of the radius is a standard reference for measuring radiological parameters in distal radius fractures. However, in patients with severe comminution and anatomical variation with distal radius bowing, it is challenging to assess using the long axis of the radius. The long axis of the ulna can be used as an alternative reference. The aim of this study is to assess the reliability and level of agreement using the long axis of the ulna as an alternative reference in comparison to the long axis of the radius. Methods: Posteroanterior (PA) radiography of the wrist in patients with acute distal radius fractures was evaluated in two rounds by four observers. Radial height, radial inclination and ulnar variance were measured using radial and ulnar long axis as references. The intraobserver and interobserver reliability of the measurements with two reference axes was assessed using intraclass correlation coefficient (ICC). The level of agreement was determined using the Bland-Altman plot. Results: In total, 59 patients who underwent PA radiography of the wrist were included in this study. All parameters exhibited good agreement between the two methods, with a mean difference of nearly zero (radial height = -0.03 mm, radial inclination = -0.14° and ulnar variance = 0.03 mm). The limits of agreement in radial height (-2.87, 2.82 mm) and ulnar variance (-0.81, 0.87 mm) were narrow. However, for the radial inclination, it was wider (-6.21, 5.94°). Intraobserver reliability between the long axis of radius and ulna (ICC = 0.85-0.99 and 0.84-0.98, respectively) was good to excellent. The interobserver reliability of each parameter was excellent (ICC = 0.94-0.97). Conclusions: The ulnar long axis can be used as an alternative reference for measuring radial height, radial inclination and ulnar variance in PA radiography of the wrist in acute distal radius fracture, particularly if the radial long axis is distorted. Level of Evidence: Level III (Diagnostic).


Subject(s)
Radius Fractures , Wrist Fractures , Humans , Radius/diagnostic imaging , Radius Fractures/diagnostic imaging , Reproducibility of Results , Ulna/diagnostic imaging , Radiography
2.
J Hand Surg Am ; 49(3): 253-259, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38180410

ABSTRACT

PURPOSE: The aim of this study was to determine the success rate, duration of disease control, and predictive factors of success of repeated corticosteroid injections for recurrent trigger finger. METHODS: This prospective cohort study involved patients who had recurrent trigger finger and a history of corticosteroid injections. A total 114 patients were treated with repeated corticosteroid injections and followed for 12 months. Data on demographic characteristics, comorbid conditions, and possible predictive factors for successful treatment from medical chart reviews and direct patient interviews were compared. Patients were classified into success or failure groups at one, three, six, and 12 months after the initial injection. The relationship between hypothesized predictors and success or failure after repeated corticosteroid injection was analyzed with multivariable logistic regression. RESULTS: The overall success rates from repeated cortisone injections after one, three, six, and 12 months were 97.4%, 84.2%, 68.4%, and 49.1%, respectively. Multivariable logistic regression modeling revealed that a high grade of disease (grade III or IV based on the Quinnell system), a body mass index (BMI) ≥ 25 kg/m2, and a short symptom-free period (< six months) after a previous injection were strong predictors of symptom recurrence (odds ratio = 3.6 [95% CI 1.5-8.4], odds ratio = 2.5 [95% CI 1.1-5.9], and odds ratio = 1.8 [95% CI 1.1-3.0], respectively). The average success rates for patients at 1-year according to the number of risk factors were as follows: none of the three risk factors, 73.3%; one risk factor, 54.2% to 63.6% (54.2% for grade III-IV triggering, 63.6% for BMI ≥ 25 kg/m2 and 63.6% for < 6-month symptom-free period); two risk factors, 30% to 75% (30% for a combination of grade III-IV and BMI ≥ 25 kg/m2, 45.5% with grade II-IV and < 6-month period, and 75% with a combination of < 6-month period and BMI ≥ 25 kg/m2); and all three risk factors, 11.8%. CONCLUSIONS: Repeated corticosteroid injections for recurrent trigger finger should be considered in patients who prefer nonsurgical treatment, especially in those without factors predictive of failure. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic II.


Subject(s)
Trigger Finger Disorder , Humans , Trigger Finger Disorder/drug therapy , Prospective Studies , Adrenal Cortex Hormones/therapeutic use , Glucocorticoids/therapeutic use , Injections , Treatment Outcome
3.
Health Qual Life Outcomes ; 21(1): 58, 2023 Jun 19.
Article in English | MEDLINE | ID: mdl-37337256

ABSTRACT

BACKGROUND: The PROMIS Parent Proxy Upper Extremity Short Form 8a version 2 (PROMIS Parent Proxy UE-SF) is one of the most commonly used self-assessment questionnaires for evaluating function in children with congenital upper extremity anomalies. However, this English questionnaire is difficult for Thai parents to complete. The purpose of this study is to translate the PROMIS Parent Proxy UE-SF into Thai and test its reliability and validity. METHODS: The PROMIS Parent Proxy UE-SF was translated into Thai using FACIT translation methodology. This version and the Thai version of the Michigan Hand Questionnaire (Thai-MHQ) were used to evaluate 30 Thai children with different types of congenital upper extremity anomalies. The reliability and validity of the Thai-PROMIS Parent Proxy UE-SF were evaluated by test-and-retest with the intraclass correlation coefficient (ICC) and Cronbach's alpha coefficient. Correlations between the Thai-PROMIS Parent Proxy UE-SF and Thai-MHQ were analysed by Pearson's correlation coefficients. RESULTS: The children's mean age was 4.47 ± 2.08 years (range 1-9 years). The main diagnoses included thumb duplication (11 children), syndactyly (4 children)4, congenital trigger thumb (3 children) and obstetric brachial plexus palsy (3 children). The children's parents completed the questionnaires, taking 164.23 ± 22.58 s for the Thai-PROMIS and 337.8 ± 49.37 s for the Thai-MHQ. The test-retest reliability of Thai-PROMIS evaluated by ICCs, was 0.9909 (good reliability), and the Cronbach's alpha of all items was 0.923. The Pearson's correlation coefficient between the Thai-PROMIS and Thai-MHQ showed a strong correlation with Domain 2 (activities of daily living, r = 0.7432) and a moderate correlation with the overall Thai-MHQ score (r = 0.699). CONCLUSIONS: The Thai-PROMIS Parent Proxy UE-SF is a valid, reliable and easy-to-use patient-reported outcome measure for assessing function in children with congenital upper extremity anomalies.


Subject(s)
Cross-Cultural Comparison , Child , Child, Preschool , Humans , Infant , Activities of Daily Living , Information Systems , Patient Reported Outcome Measures , Quality of Life , Reproducibility of Results , Southeast Asian People , Surveys and Questionnaires , Upper Extremity
5.
Heliyon ; 8(11): e11772, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36458292

ABSTRACT

Purpose: The effect of delayed distal radius fracture (DRF) fixation by volar locking plates (VLPs) on the operative time, rate of bone graft use and need for additional surgical incisions was analyzed. Short- and mid-term outcomes were compared between early and delayed DRF fixation. Methods: A retrospective cohort review of DRFs treated with VLPs was performed. The effects of delayed fixation were analyzed by 1) comparing intraoperative and radiographic parameters and follow-up outcomes between early fixation (EF, 1-10 days) and late fixation (LF, ≥11 days), 2) predicting the prolonged operative time using linear regression analysis, and 3) predicting the rate of bone graft use and additional incision using odds ratios. Results: Of 104 patients, 51 and 53 were in the EF and LF groups, respectively. EF showed a significantly shorter operative time, lower rate of bone grafting and fewer additional incisions (94.80 vs. 123 minutes, 3.92% vs. 26.18% and 2% vs. 20.45%, respectively). Radiographic parameters, immediate postoperative pain and wrist range of motion were significantly better in the EF group. However, the visual analog scale (VAS) pain and Patient-Rated Wrist Evaluation (PRWE) scores were not different at the 12-month follow-up. For every day of delay, the operation was prolonged by 2.17 min, the rate of bone grafting increased by 8%, and the chance of additional incisions increased by 8%. Conclusion: Delayed DRF fixation affects intraoperative and postoperative outcomes. We encourage internal fixation for DRFs as early as possible to reduce surgical complexity and improve postoperative outcomes.

6.
J Biomech ; 141: 111221, 2022 08.
Article in English | MEDLINE | ID: mdl-35908472

ABSTRACT

Fractures of the hamate hook are common among professional athletes. The recommended treatment for this is hamate hook excision. The purpose of this study is to evaluate the hand grip strength after hamate hook resection at different levels. Six cadaver forearm flexor digitorum profundus tendons were loaded with 5- to 15-kilograms force and grip strength was subsequently measured. The same measurements were performed in five hamate hook conditions: normal, one-third, two-thirds, total hamate excision, and after perihamate ligament reconstruction. Multilevel mixed-effect models were used to calculate the scaling ratios after each surgical intervention and compared them to a normal hamate hook. A 25%, 36%, 47% reduction, and 7% increase (107% of baseline) in grip strength was found after one-third, two-thirds, total bone was resected, and after perihamate ligament reconstruction, respectively. The study shows an association between grip strength reduction and the level of hamate hook resection. Perihamate ligament reconstruction is recommended as it restores grip strength to normal.


Subject(s)
Fractures, Bone , Hamate Bone , Cadaver , Fractures, Bone/surgery , Hamate Bone/surgery , Hand Strength , Humans , Tendons/surgery
9.
J Surg Res ; 267: 117-123, 2021 11.
Article in English | MEDLINE | ID: mdl-34147001

ABSTRACT

OBJECTIVE: To develop a 5-step evaluation method to predict vessel patency in non-living specimens by analyzing the relationship between this evaluation score and patency rate in rat femoral vessel anastomosis. METHODS: Surgical specimens of rat femoral anastomoses were collected from a basic microsurgery course. Each specimen was recorded during practice conducted on living specimens into Group 1: Successful or Group 2: Failed anastomosis. Then, all specimens were cut and blindly sent for assessment of the quality of anastomosis using the 5-step evaluation method including: (1) General appearance, (2) Passing catheter, (3) Vessel expansion, (4) Fluid outflow and (5) Anastomosis leakage. Total score (10 points) was recorded and compared between the 2 groups. The average score in each group and passing score for successful anastomoses were calculated and reported. RESULTS: A total of 47 femoral vessel anastomoses were studied. There were 25 successful anastomoses in group 1 and 22 failed anastomosis in group 2. The mean scores in group 1 and group 2 were 7.92, and 1.55, respectively. The passing score to determine successful anastomosis was 5 and chosen based on ROC curve. Predicted success rate of the anastomosis at the score of 5-6, 7-8 and 9-10 were 92%-95%, 94%-95% and 100%, respectively. CONCLUSION: The 5-step self-assessment evaluation could serve as an effective tool for new trainees to monitor their practice results during basic microsurgical training in non-living specimen.


Subject(s)
Microsurgery , Self-Assessment , Anastomosis, Surgical/methods , Animals , Femoral Artery/surgery , Microsurgery/methods , Rats , Vascular Patency
10.
Article in English | MEDLINE | ID: mdl-33986222

ABSTRACT

A 34-year-old woman was diagnosed with a giant cell tumor of the right distal radius with extensive articular invasion. After en-bloc resection of 5.5 cm of the distal radius, reconstruction was done with three-dimensional printing custom-made distal radius prosthesis. In addition, a multiligament reconstruction was done to prevent postoperative radiocarpal subluxation and imitate the native distal radius. At 18 months, the range of motion was 20° dorsiflexion, 10° palmar flexion, 10° supination, and 60° pronation. Her grip strength was 60% compared with the contralateral side. No complications were seen during this 2-year follow-up. We present the combined 3-dimensional printed custom-made prosthetic with multiligament reconstruction as an innovative method without postoperative complication at 2 years.


Subject(s)
Bone Neoplasms , Giant Cell Tumor of Bone , Adult , Female , Follow-Up Studies , Giant Cell Tumor of Bone/diagnostic imaging , Humans , Printing, Three-Dimensional , Radius/diagnostic imaging , Retrospective Studies , Treatment Outcome
11.
Tech Hand Up Extrem Surg ; 25(4): 226-234, 2021 Feb 02.
Article in English | MEDLINE | ID: mdl-33538462

ABSTRACT

Vascularized toe joint transfer can be an alternative treatment for children who have hypoplastic thumb with unstable carpometacarpal joint and refuse thumb ablation with index pollicization. This procedure can reconstruct a 5-digit hand with stable thumb for opposition. As the viable epiphyseal plate is included in this transfer, the potential for future growth can be expected from this type of reconstruction. This article describes details of the surgical procedures. The outcomes of this reconstruction are shown in a 7-year-old girl who presented with hypoplastic thumb type IV. Initially, her thumb was unstable, nonmobile, and had no function. The skin pedicle of this thumb had a diameter of about 3 mm. Preoperative radiography showed floating thumb without first metacarpal bone. The vascularized metatarsophalangeal joint from the opposite second toe was used for her hypoplastic thumb reconstruction. During the procedure, the flail thumb was preserved. The intraoperative bone gap that was needed for reconstruction was 3.5 cm. The artery was anastomosed with common digital artery from the third web space. Two dorsal veins were joined with the subcutaneous vein at the dorsum of the hand. Total operative time was 6 hours. At the 9-month follow-up, this girl achieved a 5-digit hand with stable thumb that had opposition to the tip of her little finger. She can use this hand to perform all activities of daily living without any pain. Both patient and parents were very satisfied with the functional and cosmetic appearance.


Subject(s)
Hand Deformities , Thumb , Activities of Daily Living , Child , Female , Humans , Thumb/surgery , Toe Joint , Toes
12.
J Pediatr Orthop B ; 30(6): 605-610, 2021 Nov 01.
Article in English | MEDLINE | ID: mdl-32956284

ABSTRACT

The aim of this study was to find the degree of preoperative metacarpophalangeal (MCP) joint angulation that determines the need for corrective osteotomy and to compare the result for Wassel type IV thumb polydactyly operated by soft tissue reconstruction alone or with corrective osteotomy. The surgical options for correction of the angular deformity of the MCP joint in Wassel type IV thumb polydactyly were retrospectively reviewed. The preoperative angular deformity of the MCP joint and the last postoperative residual deformity at MCP joint were measured from the radiograph of thumb posteroanterior view. The cut-off point of the preoperative MCP angulation that provided less residual deformity in patients who were treated by soft tissue procedures alone was identified from receiver operating characteristic curve. A total of 45 patients with 46 thumb polydactyly (Wassel type IV) were studied. Mean pre and postoperative MCP angulation were 24.01 (range 0-68°) and 14.65 (range 0-39°), respectively. Thirty-four thumbs from 33 patients (73.91%) were operated on by soft tissue procedures alone and 12 thumbs (26.09%) needed corrective osteotomy. The best cut-off point of preoperative MCP angulation that showed less significant residual deformity when treated by soft tissue procedure alone was 30° (96.43% sensitivity and 100% specificity). In MCP angulation ≤30°, soft tissue reconstruction alone was an effective method for correction of angular deformity with predictable outcome of no significant residual deformity (0/27 thumbs). In MCP angulation >30°, corrective osteotomy is recommended over soft tissue procedure alone due to achieve proper thumb position and adequate soft tissue balance. There is also a statistical decrease in significant residual deformity [from 85.71% (6/7 cases, treated by soft tissue procedure alone) to 30% (3/10 cases, treated by corrective osteotomy), P < 0.05]. This study proposes the use of preoperative MCP joint angular deformity as a guide to the type of surgical intervention in Wassel type IV thumb polydactyly.


Subject(s)
Polydactyly , Humans , Metacarpophalangeal Joint/diagnostic imaging , Metacarpophalangeal Joint/surgery , Osteotomy , Polydactyly/diagnostic imaging , Polydactyly/surgery , Retrospective Studies , Thumb/diagnostic imaging , Thumb/surgery
14.
Tech Hand Up Extrem Surg ; 24(2): 71-78, 2020 Jun.
Article in English | MEDLINE | ID: mdl-31633604

ABSTRACT

Typically, multistage surgeries are usually required for reconstruction of radial longitudinal deficiency with thumb hypoplasia. In this study, we propose single-stage radialization and pollicization for the radial longitudinal deficiency with thumb hypoplasia. The advantages of this technique are to reduce the number of surgical operations, the amount of anesthesia required, and to reduce the cost of multiple follow-ups for patients and family. This technique is noteworthy for the following reasons: (1) use of dorsal vertical midline incision benefit radialization proximal extension for ulnar osteotomy and has less interference with pollicization incision; (2) ulnar shortening osteotomy should be done in case of difficulty in reposition carpus over distal ulnar, overlapping bone, or wrist flexion deformity after complete soft tissue released; (3) recommended fixation technique including predrill and retrograde Kirchner insertion makes for easy osteotomy fixation; (4) exit point of Kirchner wire at the palmar site of the base index metacarpal bone was less interfered with pollicization procedure; and (5) preserved dorso-radial skin bridge between pollicization incision and radialization incision allows for adequate venous draining and prevents postoperative swelling. This technique was carried out on 2 children (4-year-old girl and 2-year-old boy) who presented with type IV radial longitudinal deficiency with unreconstructable hypoplastic thumb. This procedure was successful without any postoperative complications. At 1-year follow-up, the appearance of the wrist was corrected from 90-degree radial angulation to neutral position and from 95-degree to 15-degree radial angulation respectively. For both pollicized thumbs, adequate first web space with proper opposition thumb position was achieved. Thumb tendons started to function at 3 months after surgery. Both patients were able to use their hands to grip light objects with stable carpometacarpal joint and without any pain.


Subject(s)
Hand Deformities, Congenital/surgery , Orthopedic Procedures/methods , Radius/abnormalities , Radius/surgery , Thumb/abnormalities , Child , Child, Preschool , Female , Humans , Male
15.
J Foot Ankle Surg ; 59(1): 31-37, 2020.
Article in English | MEDLINE | ID: mdl-31757751

ABSTRACT

The differences in the anatomy of the foot and the hand may affect the dorsal flap design for web space reconstruction. In this study, the authors aimed to identify the differences in web space anatomy of the foot and the hand and provide a guideline of flap design for web space reconstruction in the foot and the hand. The right hands and right feet of adult volunteers were measured, including surgical landmarks (i.e., the dorsal prominence of proximal interphalangeal and metacarpophalangeal joints [or metatarsophalangeal joints]), proximal phalangeal length, tip of the web space, and width of web space. The web spaces and other parameters were analyzed and compared between the foot and the hand by using a paired t test with p < .05 to indicate statistical significance. A total of 108 web spaces of the foot and hand from 18 adult volunteers were analyzed. The parameters that were significantly different between the foot and the hand included (1) proximal phalangeal length (34.63 vs 60.16 mm), (2) average web height ratio (0.72 vs 0.51), (3) average web width ratio (0.69 vs 0.81), (4) mean slope angle (4.89° vs 19.26°), and (5) average abduction angle (25.33° vs 31.07°). In conclusion, the foot web space had a higher slope angle, less abduction angle, and shorter proximal phalangeal length. Therefore, the flap design for foot web space reconstruction requires a longer and narrower flap than the design for the hand. The recommended flap design length should be at least 72% of proximal phalangeal length for the foot versus 51% for the hand, and the width should be at least 69% of the distance between the tips of adjacent metatarsophalangeal joints for the foot versus 81% for the hand.


Subject(s)
Fingers/anatomy & histology , Fingers/physiology , Toes/anatomy & histology , Toes/physiology , Adult , Female , Humans , Male , Range of Motion, Articular , Plastic Surgery Procedures , Reference Values , Syndactyly/surgery
16.
J Reconstr Microsurg ; 35(5): 315-321, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30366354

ABSTRACT

BACKGROUND: Microsuture is an essential material for basic microsurgical training. However, it is consumable, expensive, and sometimes unavailable in the microsurgical laboratory. To solve this problem, we developed a microsuture made from human hair and needle gauge. METHODS: Do-It-Yourself (DIY) microsuture is made from human hair and needle gauge 32G (BD Ultra-Fine Pen Needles 4 mm × 32G). Methods are explained step by step. This DIY microsuture (labeled as "test microsuture") and nylon 8-0 (Ethilon suture 8-0, labeled as "standard microsuture") were used for teaching orthopaedic residents to perform arterial anastomosis in chicken thighs. All residents practiced without knowing that "test microsuture" was made from the DIY method. After completing the training, quality of both microsutures was evaluated by questionnaire in topics of (1) thread quality (size, strength, elasticity, handing, knot perform, and knot security), (2) needle quality (size, curve, shape, sharpness, handling, and strength), (3) needle-thread interface (size, strength, and smoothness), and (4) overall quality of microsuture. Each category was evaluated by Likert score (5 = excellent, 4 = good, 3 = fair, 2 = poor, and 1 = very poor). RESULTS: The DIY microsuture was performed in three steps: (1) insert human hair into needle gauge by microforceps, (2) bend needle into smooth curve, and (3) disconnect needle and create needle-hair interface. The questionnaire was completed by 30 orthopaedic residents and showed that thread quality of DIY and standard microsuture had "good" and "good-to-excellent" quality (mean Likert score: 3.77-4.23 and 3.80-4.27, respectively, with no statistical difference). Thread-needle interface quality of DIY and standard microsuture also had "good" and "good-to-excellent" quality (Likert score: 3.73-4.20 and 4.07-4.33, respectively, with no statistical difference). Needle part of DIY microsuture had lower quality than standard suture (fair-to-good compared with good-to-excellence quality, score 3.30-3.67 vs. 4.20-4.27, respectively, with a statistically significant difference, p-value < 0.05). However, overall quality of DIY suture and standard microsuture had "good" and "good-to-excellent" (mean Likert score: 3.73 and 4.00, respectively, with no statistical difference). CONCLUSION: The DIY microsuture from human hair and needle gauge could be an alternative for basic microsurgical training with lower cost, easy production, and more availability for use in practice with acceptable quality compared with that of standard microsuture.


Subject(s)
Hair/physiology , Microsurgery/instrumentation , Poultry/surgery , Suture Techniques , Tensile Strength/physiology , Vascular Surgical Procedures/instrumentation , Animals , Humans , Microsurgery/methods , Poultry/anatomy & histology , Surgical Equipment , Suture Techniques/instrumentation , Vascular Surgical Procedures/methods
17.
World J Orthop ; 7(12): 843-846, 2016 Dec 18.
Article in English | MEDLINE | ID: mdl-28032039

ABSTRACT

Glomus tumors are uncommon, benign, small neurovascular neoplasms derived from glomus bodies in the reticular dermis. Glomus bodies are found throughout the body to regulate body temperature and skin circulation; however, they are concentrated in the fingers and the sole of the foot. The typical presentation is a solitary nodule in the subungual or periungual area of the distal phalanx. The primary treatment of choice is surgical removal. We investigated expression of vascular endothelial growth factor (VEGF) using immunohistochemistry in glomus tumors of the fingers. All five glomus tumor samples were positive for VEGF expression. VEGF immunoreactivity was largely localized to the cytoplasm of tumor cells, suggesting a contribution of VEGF to the vascularization of glomus tumors.

18.
SICOT J ; 2: 9, 2016 Mar 16.
Article in English | MEDLINE | ID: mdl-27163098

ABSTRACT

INTRODUCTION: The purpose of this study was to compare the result of treatment of patients with failed primary carpal tunnel surgery who suspected pronator teres syndrome (PTS) by performing revision carpal tunnel release (CTR) with pronator teres release (PTR) and revision CTR alone. METHODS: Retrospective chart review in patients who required revision CTR and suspected PTS. Group 1, treated by redo CTR with PTR and group 2, treated by redo CTR alone. Intraoperative findings, pre and postoperative numbness (2-PD), pain (VAS score), and grip strength were studied. RESULTS: There were 17 patients (20 wrists) in group 1 and 5 patients (5 wrists) in group 2. Patients in group 1 showed more chance of fully recovery of numbness and pain than group 2 (60% vs. 0%, p < 0.05 and 55.0% vs. 0%, p < 0.05, respectively). Mean grip strength was increased 16.0% in group 1 and increase 11.7% in group 2. Most common pathology at the elbow were deep head of pronator teres 90% (18/20 elbows) and lacertus fibrosus 50% (10/20 elbows). The most common finding at carpal tunnel was the reformed transverse carpal ligaments (80%, 20/25 wrists) and scar adhesion around the median nerve (40%, 10/25 wrists). DISCUSSION: Intraoperative findings from our study confirmed that there were pathology in both carpal tunnel and pronator area in failed primary CTR with suspected PTS. Our study showed that combined PTR with revision CTR provided higher chance of completely recovery from numbness and pain more than redo CTR alone.

19.
J Med Genet ; 51(12): 817-23, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25332435

ABSTRACT

BACKGROUND: Split hand/split foot malformation (SHFM) type 1 is characterised by missing central digital rays with clefts of the hands and/or feet, which was linked to chromosome 7q21.3. While double knockout of Dlx5 and Dlx6 resulted in limb defects in mice, the majority of patients with SHFM1 had only heterozygous chromosomal abnormalities. OBJECTIVE: To investigate the clinical and molecular features of a large family with SHFM1. METHODS: Blood samples of family members were investigated by linkage analysis, array comparative genomic hybridisation, exome sequencing and PCR-Sanger sequencing. Cultures from bone specimens obtained from the proband and an unrelated unaffected individual were established and subjected to quantitative real-time PCR, reverse-transcribed PCR, Western blot and imprinting analysis. RESULTS: We report a large pedigree of SHFM1 with 10 members having a heterozygous 103 kb deletion, the smallest one ever reported to be associated with SHFM1. Of these 10, two had no limb anomalies, making a penetrance of 80%. The deletion encompassed exons 15 and 17 of DYNC1I1, which are known enhancers of two downstream genes, DLX5 and DLX6. Surprisingly, DLX5 and DLX6 RNA and proteins in our proband's cultured osteoblasts, instead of 50% decrease, were absent. Allelic expression studies in cultured osteoblasts of the unaffected individual showed that DSS1, DLX6 and DLX5 expressed only paternal alleles. These lines of evidence indicate that DSS1, DLX6 and DLX5 were maternally imprinted in osteoblasts. CONCLUSIONS: SHFM1 in our family is caused by a heterozygous paternal deletion of enhancers of the osteoblast-specific maternally imprinted DLX6 and DLX5 genes, leading to the absence of their proteins.


Subject(s)
Genomic Imprinting , Homeodomain Proteins/genetics , Limb Deformities, Congenital/metabolism , Transcription Factors/genetics , Chromosome Breakpoints , Comparative Genomic Hybridization , DNA Copy Number Variations , Female , Foot Deformities, Congenital/diagnostic imaging , Foot Deformities, Congenital/pathology , Gene Expression , Genetic Linkage , Hand Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/pathology , Heterozygote , Humans , Limb Deformities, Congenital/diagnosis , Male , Organ Specificity/genetics , Osteoblasts/metabolism , Pedigree , Phenotype , Point Mutation , Radiography , Sequence Deletion
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