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.

Reversed vascularized second metatarsal flap for reconstruction of Manske type IIIB and IV thumb hypoplasia with reduced donor site morbidity / 中华医学杂志(英文版)

Background@#The predominant method for Manske type IIIB and IV thumb hypoplasia is pollicization. However, for those who are not willing to sacrifice the index finger, a method that could reconstruct a functionally capable and aesthetically acceptable thumb remains desirable. This study aimed to investigate and assess the functional and radiographic outcomes of utilizing a reversed vascularized second metatarsal composite flap for thumb reconstruction as a new alternative.@*Methods@#From May 2014 to January 2017, 15 patients with Manske type IIIB or IV thumb hypoplasia who were admitted to the Department of Hand Surgery, Beijing Jishuitan Hospital were included in this study. An osteocutaneous flap containing a section of second metatarsal and its distal head was transferred in reversed position to reconstruct carpometacarpal joint. The donor site was reconstructed by a split half of the third metatarsal. Various functional reconstructions were commenced at second stage. The reconstructed thumbs were evaluated using the Kapandji score, pinch force, and the capacities of performing daily activities through a detailed questionnaire.@*Results@#Among these 15 patients (seven type IIIB and eight type IV), there were ten boys and five girls with median age of 4.2 years (range: 2.0-7.0 years). There were seven right, three left, and five bilateral thumbs for whom only the right thumb received surgery. There were 14 metatarsal flaps survived (14/15). With an average follow-up of 19.2 months, the reconstructed thumbs had acceptable functional and aesthetic outcomes and the donor foot presented in decent appearance without signs of impaired function. All 15 children have improved the Kapandji score (from 0 to an average of 6.7), pinch force (from 0 to an average of 1.5 kg), with ability of grip and pen holding. X-ray indicated continuous bone growth. Patients and parents had good acceptance of the new thumb.@*Conclusions@#Reconstruction of an unstable hypoplastic thumb (Manske type IIIB and IV) with use of a vascularized metatarsal is an effective strategy. It offers an alternative solution for parents insisting on saving the thumb.

Reversed vascularized second metatarsal flap for reconstruction of Manske type IIIB and IV thumb hypoplasia with reduced donor site morbidity / 中华医学杂志(英文版)

BACKGROUND@#The predominant method for Manske type IIIB and IV thumb hypoplasia is pollicization. However, for those who are not willing to sacrifice the index finger, a method that could reconstruct a functionally capable and aesthetically acceptable thumb remains desirable. This study aimed to investigate and assess the functional and radiographic outcomes of utilizing a reversed vascularized second metatarsal composite flap for thumb reconstruction as a new alternative.@*METHODS@#From May 2014 to January 2017, 15 patients with Manske type IIIB or IV thumb hypoplasia who were admitted to the Department of Hand Surgery, Beijing Jishuitan Hospital were included in this study. An osteocutaneous flap containing a section of second metatarsal and its distal head was transferred in reversed position to reconstruct carpometacarpal joint. The donor site was reconstructed by a split half of the third metatarsal. Various functional reconstructions were commenced at second stage. The reconstructed thumbs were evaluated using the Kapandji score, pinch force, and the capacities of performing daily activities through a detailed questionnaire.@*RESULTS@#Among these 15 patients (seven type IIIB and eight type IV), there were ten boys and five girls with median age of 4.2 years (range: 2.0-7.0 years). There were seven right, three left, and five bilateral thumbs for whom only the right thumb received surgery. There were 14 metatarsal flaps survived (14/15). With an average follow-up of 19.2 months, the reconstructed thumbs had acceptable functional and aesthetic outcomes and the donor foot presented in decent appearance without signs of impaired function. All 15 children have improved the Kapandji score (from 0 to an average of 6.7), pinch force (from 0 to an average of 1.5 kg), with ability of grip and pen holding. X-ray indicated continuous bone growth. Patients and parents had good acceptance of the new thumb.@*CONCLUSIONS@#Reconstruction of an unstable hypoplastic thumb (Manske type IIIB and IV) with use of a vascularized metatarsal is an effective strategy. It offers an alternative solution for parents insisting on saving the thumb.

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>

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>

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>

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>

Interfering Remedial Effect of Adenosine on Rats with Acute Renal Failure / 实用儿科临床杂志

Objective To investigate the effect of adenosine on rats with acute renal failure(ARF) resulting from ischemia-reperfusion(IR).Methods The model of renal IR injury rats was induced by nipping bilateral renal pedicels of rats with non-traumatic forceps for 40 minutes.The first adenosine group was given adenosine 10 mg/kg intraabdominally at 2 hours before IR.The second adenosine group was given the same adenosine at 40 minutes after IR.Serum creatinine(Scr) levels,the proportion of apoptosis of renal tubular cells(RTCs) and the pathological changes of renal tissue were observed separately in every group at 2,6,12 hours after IR.Results 1.At 12 hours after IR,in IR group Scr levels and apoptosis of RTCs count were(198.56?13.35) ?mol/L and 26.50?2.07,which were increased significantly compared with sham group.In the first and second adenosine groups,they were(113.85?(12.90) ?mol/L),14.67?3.44 and(218.79?37.65) ?mol/L,20.83?5.27,respectively,and all of them were higher than those in sham group(all P0.05).Conclusions Adenosine which is given to rats with IR before IR may be an effective pharmacological agent for prevention and treatment of renal IR injury.The mechanism may be relevant to saving energy and reducing cellular apoptosis.

Inhibitive Effect of Interleukin-4,-10 on Cell Apoptosis in Rats with Renal Ischemic-Reperfusion Injury / 实用儿科临床杂志

Objective To study the inhibitive effect of interleukin-4(IL-4) and (or) IL-10 on cell apoptosis of renal ischemic-reperfusion injury(IRI) in rats and its mechanism.Methods Thirty female Sprague-Dawley rats were divided into five groups(n=6): sham-operated group,operation+9 g/L NaCl control (NaCl group),operation+IL-4(IL-4 group),operation+IL-10(IL-10 group),operation+ IL-4+IL-10 (IL-4+IL-10 group). The animal model of IRI was set up by clamping bilateral renal pedicles for 45 min.When the clamp was loosed, relevant agents was injected in every group. Apoptosis of renal epithelial cells (TUNEL method) was obserued.Results IL-4 could not reduce level of apoptosis of renal epithelial cells.To some extent,IL-10 could reduce level of renal epithelial cells. The combination of IL-4 and IL-10 was more effective in inhibiting apoptosis of renal epithelial cells.Conclusion The combination of IL-4 and IL-10 is effective in inhibiting apoptosis of renal epithelial cells, indicating that it has a relationship in preventing renal histological and functional damage.