Clinical characteristics of 170 cases of macrodactyly / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.

Contralateral C7 Nerve Root Transfer for Function Recovery in Adults: A Meta-analysis / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Root avulsion to all 5 roots of the brachial plexus is a common presentation and keeps a major reconstructive challenge. The contralateral C7 (CC7) nerve transfer has been used in treating brachial plexus avulsion injury (BPAI) since 1986. However, the effectiveness of the procedure remains a subject of controversy. The aim of this meta-analysis was to study surgical outcomes regarding motor and sensory recovery after CC7 nerve transfer.</p><p><b>METHODS</b>Chinese or English (i.e., "contralateral c-7", "contralateral c7", "c7 nerve root", and "seventh cervical nerve root") keywords were used for a literature search for articles related to CC7 nerve transfer in several databases (i.e., PubMed, Cochrane, Embase, CNKI, CQVIP, and Wanfang Data). Clinical research articles were screened, and animal studies as well as duplicate publications were excluded. Muscle strength and sensory recovery were considered to be effective only when the scores on the United Kingdom Medical Research Council scale were equal to or higher than M3 and S3, respectively.</p><p><b>RESULTS</b>The overall ipsilateral recipient nerve recovery rates were as follows: the efficiency rate for muscle strength recovery after CC7 nerve transfer was 0.57 (95% confidence interval [CI]: 0.48-0.66) and for sensory recovery was 0.52 (95% CI: 0.46-0.58). When the recipient nerve was the median nerve, the efficiency rate for muscle strength recovery was 0.50 (95% CI: 0.39-0.61) and for sensory was 0.56 (95% CI: 0.50-0.63). When the recipient nerve was the musculocutaneous nerve and the radial nerve, the efficiency rate for muscle strength recovery was 0.74 (95% CI: 0.65-0.82) and 0.50 (95% CI: 0.31-0.70), respectively.</p><p><b>CONCLUSIONS</b>Transfer of CC7 nerves to musculocutaneous nerves leads to the best results. CC7 is a reliable donor nerve, which can be safely used for upper limb function reconstruction, especially for entirely BPAI. When modifying procedures, musculocutaneous nerves and median nerve can be combined as recipient nerves.</p>

Congenital symbrachydactyly: outcomes of surgical treatment in 120 webs / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Symbrachydactyly is defined as a combination of short fingers with syndactyly. There are few published reports estimating the incidence of symbrachydactyly. The aim of this study was to investigate the clinical features and the outcome of surgical treatment for congenital symbrachydactyly.</p><p><b>METHODS</b>One hundred and twenty webs of thirty-four patients of symbrachydactyly were involved in the study. The sex ratio was 21 males/13 females. The age ranged from 1 year to 8 years, average 2.6 years. Four cases had both hands involved and 30 patients had one hand involvement. Release of the syndactylous digits webs were completed by one surgical procedure in 14 cases and more than one surgical procedure in 20 cases; 3 to 6 months between the procedures. In the meantime, some of the associated hand deformities were treated.</p><p><b>RESULTS</b>Postoperative follow-up time was 10 to 18 months, average 12 months. All the fingers involved in this study were separated successfully. However, 6 fingers had scar tissue contracture and 8 had web scar adhesion. All complications needed further surgical treatment. Parents of 94.1% of the patients were satisfied with the overall function of the hand, and 76.5% were satisfied with the cosmetic appearance of hand.</p><p><b>CONCLUSIONS</b>The combination of syndactyly and brachydactyly is the main clinical feature in symbrachydactyly. Separation of the digital webs can greatly improve the function of the hand. However, more work needs to be done to improve the cosmetic appearance of the hand.</p>

Schwannomatosis: a new member of neurofibromatosis family / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Schwannomatosis is a recently recognized peripheral nerve polyneoplasm with clinical characteristics and a genetic background that differ from those of neurofibromatosis 2 (NF2). The diagnostic and treatment criteria of this rare disorder are herein discussed.</p><p><b>METHODS</b>The data of 180 patients who underwent operations for benign schwannomas from 2003 to 2012 in our center were reviewed. Eight of them were classified as schwannomatosis according to the diagnostic criteria suggested by MacCollin. The demographic characteristics were documented and compared between the two groups of patients. The patients' clinical presentations, imaging characteristics, histological features, and treatment results were retrospectively investigated and summarized.</p><p><b>RESULTS</b>Of the 180 cases of benign schwannomas we reviewed this time, eight patients presented with schwannomatosis (4.44%). The mean age of the two groups was not significantly different (40.0 vs. 44.7 years, t = 0.88, P = 0.378). However, schwannnomatosis seems to more generally occur in females (75% vs. 48% were females, P = 0.162), although the difference was not statistically significant. The initial main symptom was pain. The neurological examination was otherwise normal. Magnetic resonance imaging (MRI) revealed multiple discrete, well-defined round, or oval lesions distributed along the course of the peripheral nerves in the extremities with low-to-intermediate signal intensity on T1-weighted images and high-signal intensity on T2-weighted images. Vestibular schwannomas were excluded in four patients by cranial MRI. The lesions in all patients were resected and were pathologically proven to be schwannomas. The average follow-up period was 26 months. Six individuals obtained a good result without symptoms or function loss.</p><p><b>CONCLUSIONS</b>Schwannomatosis is characterized by the development of multiple schwannomas without evidence of the vestibular tumors that are diagnostic for NF2. It commonly occurs in middle-aged females. It has similar demographic features to solitary benign schwannoma. Surgical resection always results in a good outcome.</p>

An epidemiological investigation of acute occupational hand injuries / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To study composition, distribution and causes of acute occupational hand injuries in Beijing Jishuitan Hospital.</p><p><b>METHODS</b>From April 1st 2005 to September 30th 2005, all patients with acute hand injuries were investigated by questionnaire focusing on all related epidemiological elements.</p><p><b>RESULTS</b>Two thousand six hundred fifty eight cases with acute hand injuries were about 17.3 % of patients with acute orthopedic injuries. Their mean age was (30.4 +/- 10.8) years old. The radio of males to females in cases with acute hand injuries was 57:1. The cutting and crushing injuries were the main causes of acute hand injuries. Most of cases with acute hand injuries were engaged in work related to machines. The acute hand injuries were mainly involved in index and middle figures of both hands, 94.9 % of acute hand injuries were opening, and 87.6% of acute hand injuries were involved in the deep tissues.</p><p><b>CONCLUSION</b>Acute hand injuries are the common occupational severe injuries for young male workers. The acute hand injuries occur in patients engaged in work related to machines. The prevention of acute hand injuries should be emphasized.</p>

A method of measuring the displacement of the distal radioulnar joint on the three-dimensional CT imaging / 中华外科杂志

<p><b>OBJECTIVES</b>To establish a clinical method for measuring the displacement of the distal radioulnar joint (DRUJ) precisely irrespective of ulnar variance, and to derive normal population translation references with palmar and dorsal stress.</p><p><b>METHODS</b>Thirty-seven normal distal forearms were scanned with computed tomography using an apparatus designed by Pirela-Cruz. Each extremity was scanned in two positions: maximal ulnar palmar and dorsal stress. The digital imaging and communications in medicine (DICOM) CT images were then imported into Mimics 10.0 for three-dimensional reconstruction. On the DRUJs 3D images, choose the most prominent point of the palmar and dorsal margins of the sigmoid notch and the excavate ulna fovea as the reference points A, B and C. A perpendicular line was then drawn from the point C to a line connecting points A and B with the intersection D. Calculate the ratio of AD/AB and DB/AB. Two observers measured all the DRUJs independently and one repeated the measurements one month later to determine the interobserver and intraobserver reliability.</p><p><b>RESULTS</b>The mean ratio values of palmar (AD/AB) and dorsal (DB/AB) translation were 0.39 ± 0.07 and 0.37 ± 0.07, and the normal references (x(-) ± 2 s) were from 0.25 to 0.50 and from 0.23 to 0.50, respectively. No significant differences were observed in terms of positions, genders and dominant hands. The intraclass correlation coefficient (ICC) values for interobserver and intraobserver reliability (DB/AB, AD/AB) were 0.84, 0.80, 0.93 and 0.92, respectively.</p><p><b>CONCLUSIONS</b>This new method could accurately measure the displacement of DRUJs with acceptable reliability, even with ulna positive or negative variance. Instability of DRUJ may be indicated when AD/AB is less than 0.25 or BD/AB is less than 0.23.</p>

Biomechanical research of antegrade intramedullary fixation for the metacarpal fractures / 中华外科杂志

<p><b>OBJECTIVE</b>To study the biomechanical characteristics of antegrade intramedullary fixation for metacarpal fractures.</p><p><b>METHODS</b>From March to May 2008, both the 4th and 5th metacarpals from 25 formalin embalmed cadaver hands had three-point bending test after transverse osteotomy followed by randomly fixation with one of the following three methods: plate and screw, antegrade intramedullary K-wire, crossed K-wire. While, both the 2nd and 3rd metacarpals had torsional loading test after the same management as the 4th and 5th metacarpal had undergone.</p><p><b>RESULTS</b>In the three-point bending test, both the maximum bending moment (M(max)) and bending rigidity (EI) of the antegrade intramedullary K-wire were comparable with those of the plate and screw, and were significantly larger than those of the crossed K-wire. In the torsional loading test, the antegrade intramedullary K-wire had a statistically smaller maximum torque (T(max)) than the plate and screw, and had a comparable T(max) with the crossed K-wire; while, the torsional rigidity (GJ) of the intramedullary K-wire was statistically weaker than that of both the plate and screw and the crossed wire.</p><p><b>CONCLUSIONS</b>One single antegrade intramedullary K-wire can provide a satisfactory M(max) and EI for metacarpal fixation and shows relatively weak in the torsional loading test. The injured finger should be well protected to avoid torsional deformity in clinical practice.</p>

Management of intra-articular fracture of the fingers via mini external fixator combined with limited internal fixation / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Intra-articular fractures of the fingers are common problems to emergency physicians and hand surgeons. Inappropriate management of these injuries may result in chronic pain, stiffness, deformity, or post traumatic arthritis. Ideal treatment necessitates the restoration of a stable and congruent joint that will allow early mobilization. The purpose of this study was to investigate the results of intra-articular fracture of the fingers by mini external fixator combined with limited internal fixation.</p><p><b>METHODS</b>From May 2005 to May 2007, a total of 26 patients with intra-articular fracture of the fingers were treated by mini external fixator combined with limited internal fixation. Of the 26 cases, 11 involved in metacarpophalangeal joint, and 15 interphalangeal joint in proximal interphalangeal. Kirschner wire, mini wire and absorbable suture were used for limited internal fixation. All patients were followed up and patients were accomplished with total active motion (TAM) of fingers.</p><p><b>RESULTS</b>All patients were reviewed by an independent observer. The mean follow up was 13 months (range 9 to 24 months). Subjective, objective and radiographic results were evaluated. X-ray films revealed fracture union and the average radiographic union time was 7 weeks with a range of 5 - 12 weeks and the phalange shortening or rotation in 2 cases, joint incongruity (less than 1 mm) and joint space narrowing in 3 cases respectively. Phalangeal shortening or rotation was observed in 2 cases and joint incongruity or joint space narrowing was observed in 3 cases. An artificial implant was performed on one case for traumatic arthritis 1.5 years after surgery. Based on TAM the overall good-excellent rate of joint motion function was 80.8%.</p><p><b>CONCLUSION</b>Mini external fixator combined with limited internal fixation is a reliable and effective method for treatment of intra-articular fracture of the fingers.</p>

Malignant giant cell tumor of the tendon sheaths in the hand / 中华外科杂志

<p><b>OBJECTIVES</b>To retrospectively study on malignant giant cell tumor of tendon sheath (MGCTTS) in the hand, and to evaluate its clinical, histologic, immunohistochemical features and biologic evolution.</p><p><b>METHODS</b>Between January 1991 and December 2001, 10 patients with histologically proven MGCTTS were treated. The clinical material, radiographs and hematoxylin and eosin-stained sections were reviewed. Immunohistochemical studies and nuclear suspensions for flow cytometry were done on paraffin embedded tissue. All patients were followed up.</p><p><b>RESULTS</b>Three of 10 patients in which the diagnosis of MGCTTS was originally considered were excluded after the slides reviewed and immunohistochemical examination performed. In the other 7 patients, one showed malignant and aggressive nature: the lesion recurred several times and the patient eventually died with pulmonary metastases. The immunohistochemical profile of the patient was similar to that reported in benign GCTTS, and the flow cytometry DNA analysis detected aneuploidy. Six cases presented histologic features of malignancy, 4 of them undertook the immunohistochemical examination and their profiles were similar to that reported in benign GCTTS. An aneuploidy DNA pattern was detected in one case on flow cytometry evaluation, diploidy DNA pattern was detected in 3 cases, and their S-phase fraction was 4.5%, 11.6% and 2.6% respectively. All of them had a benign clinical features, they were alive and without evidence of disease from 1.5 to 7.5 years (averagely, 4.5 years) after complete surgical excision or resections with wide surgical margins. None of them had received chemotherapy or radiation therapy.</p><p><b>CONCLUSIONS</b>Malignant giant cell tumor of tendon sheath is an extremely rare malignant tumor, some cases have a poor outcome, the others, despite the histologically malignant features, have a good prognosis if wide surgical excision ablates the tumor completely.</p>

Clinical analysis of 73 cases of macrodactyly / 中华外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of 73 cases of macrodactyly.</p><p><b>METHODS</b>Review the incidence, distribution, characteristic, X-rays, pathogenesis and treatment of involved digits on the base of the clinical documents of 73 macrodactyly which were treated from 1965 to 2006. Twenty-eight cases had been followed-up.</p><p><b>RESULTS</b>Unilateral involved 71 cases, bilateral involved 2 cases. In upper deformities, the most involved digit was the index finger, followed by thumb and middle finger enlargement. In lower deformities, the second toes were affected more. There were 12 cases of static macrodactyly, which were all presented at or soon after birth. Sixty-one cases were progressive macrodactyly: 39 cases presented at birth; 17 cases occurred at about 2 years old; 5 cases were found after age 2. Thirty-seven cases of progressive type presented digital deviation; 3 cases associated with syndactyly; 16 cases complicated with thenar eminence hypertrophy; 8 cases of multiple-digit involved combined with palm and forearm hyperplasia.</p><p><b>CONCLUSIONS</b>Macrodactyly in hand has a preference for the median nerve territory, mainly involving index, thumb and middle finger. Pedal macrodactyly prefers medial plantar nerve territory, the second toe is the most commonly affected. The progressive macrodactyly is more common than static. It may present at birth and combine with syndactyly, digital deviation, thenar eminence hypertrophy, palm and forearm hyperplasia.</p>

Digital gigantism of the foot: a clinical study of 12 cases / 中华外科杂志

<p><b>OBJECTIVE</b>To summarize the clinical characteristic and outcome of digital gigantism of the foot.</p><p><b>METHODS</b>Retrospectively analyze the clinical documents of cases of digital gigantism of the foot. Twelve 12 cases with 13 feet in this study included 8 male and 4 female with an average 4.6-years-old. All the deformities were found at birth. Multiple toes involved were more than single toe, and tibial toe involved more than fibular. Forefoot was enlarged. All the phalanges involved and partial metatarsal bones were enlarged. Marked increase in subcutaneous fat was found in all cases in the operation which infiltrated interossei and articular capsules. The appearance of the nerves and its branches in the foot were normal and fat infiltrating was not discovered. The operation types included debulking, epiphyseal arrest, amputation, nerve stripping and anastomosis.</p><p><b>RESULTS</b>Seven cases were followed up with mean periods 25.6 months. Functional evaluation according to a criterion formulated by author revealed a result of 2 excellent, 2 good and 3 fair.</p><p><b>CONCLUSIONS</b>Digital gigantism of the foot is an uncommon congenital deformity of the foot characterized by overgrowth of both the soft-tissue and the osseous elements of the enlarged toe and forefoot. Surgical treatment is the unique method, and the goal is to reduce the size of the foot to allow fitting regular shoes and walking readily. There are several types of operations which to be chosen. The indication, the timing of operative intervention and the selection of operation type should be paid more attention.</p>

Restoration of thumb opposition by transposing the flexsor pollicis brevis muscle: thirteen-year clinical application / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>To repair late median nerve injury, many methods have been used in the past years. The aim of this study was to review a thirteen-year experience in restoration of thumb opposition by transposing flexor pollicis brevis muscle.</p><p><b>METHODS</b>From July 1992 to August 2005, 63 patients without thumb opposition because of late median never injury were treated by transposing the flexor pollicis brevis muscle. All the patients had received primary nerve repair after the jnjury. The interval between the injury and the second operation was (1.87 +/- 2.31) years (6 months to 4.2 years). The patients were followed up for 3 to 48 [months mean (22.93 +/- 2.31) months]. A functional evaluation system designed in 1992 were used to estimate the outcomes of the patients.</p><p><b>RESULTS</b>All the patients gained excellent functional results without complications and disabilities during follow-up.</p><p><b>CONCLUSIONS</b>Restoration of thumb opposition by transposing flexsor pollicis brevis muscle has the following advantages: 1. Operative trauma is minimal; 2. It is not necessary to transpose other tendons; 3. Except for the thumb in opposition, movements of other fingers and the wrist are not restricted postoperatively.</p>

Clinical analysis of 16 cases of epithelioid sarcoma / 中华外科杂志

<p><b>OBJECTIVE</b>To introduce the clinical features of a rare malignant soft tissue tumor.</p><p><b>METHODS</b>Review the clinical findings, pathologic features and results of the treatment of 16 cases of the epithelioid sarcoma in extremities, which were treated in our hospital from 1992 to 2004. Analyze the follow-up results of 14 cases.</p><p><b>RESULTS</b>The tumors occurred chiefly in young adults (mean age 30 years) and commonly involved soft tissue of the hand. Follow-up (average 25 months, from 1 to 112 months) information on 14 patients revealed relentless clinical course with frequent recurrence (71%). There was a significant difference between those patients in whom had a marginal and radical resection, both in recurrence rate and disease-free survival rate.</p><p><b>CONCLUSION</b>It is safe to choose the radical resection of this disease after the tumor reoccurs.</p>

Repair of postburn hand using scarred skin and an abdominal flap in patients with severe burns / 中华整形外科杂志

<p><b>OBJECTIVE</b>To introduce a method for repairing and restoring hand function of the patients suffering from large surface area burn with scarce normal skin for reconstruction.</p><p><b>METHODS</b>Seven patients (ten hands) were treated in our department from April 1994 to February 2001. The TBSA involved with second- or third-degree burns was 85%-96%. All the hands had severe scar contracture on the dorsum and lost most of their function. A scarred skin flap, based on the ulnar border of the hand was elevated integrally on the dorsum. A random-pattern abdominal flap at a less-scarred area was designed and elevated to cover the defect of the hand while the scarred skin flap of the hand was transferred to the donor site of the abdominal flap.</p><p><b>RESULTS</b>All patients were followed for 0.5 to 4 years postoperatively. The range of motion of the metacarpophalangeal joint and the space capacity of the first web were greatly improved. All patients regained self-care ability.</p><p><b>CONCLUSIONS</b>This method is simple and has satisfactory results. Under the circumstances where normal skin was not available for reconstruction, the function of the burned hand could be greatly improved by this method.</p>