Phenotype and genotype features of 11 children with dystonia 28 caused by KMT2B variants / 中华实用儿科临床杂志

Objective:To summarize the clinical characteristics of children with dystonia 28 (DYT28) caused by KMT2B gene variations so as to improve clinicians′ understanding of the disease. Methods:The clinical manifestations, treatment and gene variation data of 11 children with DYT28 caused by KMT2B gene variations were retrospectively collected and analyzed.The subjects were recruited from the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from March 2018 to January 2021.The patients were followed up. Results:There were 8 males and 3 females.The age at onset was ranging from 1 month to 6 years without inducement.Eight cases were gene-ralized dystonia and 3 cases were multifocal dystonia.The initial symptoms of 7 cases were unilateral or bilateral lower limbs tiptoeing.Four cases presented dysarthria, retching or swallowing difficulties at onset.As the disease progressed, all the cases had laryngeal dystonia, 10 cases had lower limbs dystonia, and 8 cases had upper limbs dystonia.Six cases were complicated with other dyskinesia symptoms.Ten cases had varying degrees of short stature, microcephalus, micrognathia, musculoskeletal abnormalities, intellectual disability, endocrinopathies and sleep difficulties.The brain magnetic resonance imaging showed abnormal in only 1 case.Eleven KMT2B gene pathogenic variants were found, including 8 frameshift variants, 1 in-frame variant and 2 missense variants.Four variants were novel.Eleven cases were followed up at the age of 1 year and 7 months to 17 years and 9 months.One case wasn′t given therapy.The dystonia in 3 cases was mildly improved after medication.Dysfunction of urination and defecation was disappeared in 1 case after medication.The symptom of 6 cases had no improvement after drug therapy.Among the above 6 cases, 5 drug refractory cases had deep brain stimulation, and their dystonia symptoms are all obviously improved; 2 cases had normal control of urination and defecation after deep brain stimulation.The motor scores in the Burke-Fahn-Marsden dystonia rating scale were improved by 55.8%-90.7%, and the disability scores were improved by 14.8%-69.6%. Conclusions:DYT28 caused by KMT2B gene variations is one of the most common and early-onset genetic dystonia in children.The dystonia symptom progresses from local parts to the whole body, prominently involving laryngeal muscles and lower limbs.Control of urination and defecation requires attention.Patients with mild dystonia symptoms can be effectively treated by drugs.However, patients with severe dystonia symptoms were drug refractory, and their dystonia symptoms can be effectively improved by deep brain stimulation.

Analysis of clinical characteristics of children with slit ventricle syndrome / 中华实用儿科临床杂志

Objective:To identify clinical characteristics of slit ventricle syndrome (SVS) in children, thus improving pediatricians′ understanding of pediatric SVS.Methods:Clinical data of children diagnosed as SVS in the Emergency Department of Beijing Children′s Hospital, Capital Medical University from June 2015 to May 2019 were collected and retrospectively analyzed.Results:A total of 10 children with SVS were included, including 3 cases of arachnoid cyst, 3 cases of congenital hydrocephalus, 2 cases of Dandy-Walker syndrome, 1 case of idiopathic intracranial hypertension syndrome, and 1 case of hydrocephalus secondary to intracranial hemorrhage as the primary disease.The age of first shunting, and that at diagnosis of SVS were 1.3 (0.3-12.8) years, and 9.9 (3.8-13.3) years, respectively.SVS-associated symptoms appeared in 4.4 (0.5-12.0) years after shunting, including intermittent headache (10/10 cases), vomiting (10/10 cases), irritability (4/10 cases), seizures (5/10 cases), diminution of vision (2/10 cases), and intracranial hypertension (10/10 cases) at varying severities.When SVS occurred, the cerebral ventricle presented slit-like morphology.Three cases were relieved with mannitol treatment and 7 cases were treated with emergency lumbar-peritoneal shunt after mannitol failure.During 1-5 years of follow-up, 9 patients did not have SVS-associated symptoms and 1 case with medical therapy had recurrences.Conclusions:SVS is a rare complication after shunt surgery, with the clinical manifestations of intermittent headache and slow valve refilling conforming; imaging showed that the cerebral ventricle was slit-like morphology.When there are signs of intracranial hypertension after shunting and there is no cerebral ventricle dilatation in imaging, SVS should be highly vigilant.Once SVS is confirmed, surgical intervention should be introduced as early as possible after treatment failure of medication, so as to improve the prognosis.

Role of Dual-layer Detector Energy Spectral CT in Resting Myocardial Perfusion Imaging for Patients with Normal Coronary Artery / 中国医学科学院学报

Objective To investigate the role of dual-layer detector energy spectral CT in resting myocardial perfusion imaging for patients with normal coronary artery. Methods One hundred and fifty-six patients with suspected coronary heart disease underwent dual-layer detector energy spectral CT coronary angiography,and resting myocardial perfusion imaging was performed for 28 patients with normal coronary artery.According to American Heart Association's 17-segmentmodel,the iodine density and effective atomic number(Z

Subtemporal transpetrosal apex approach: study on its use in large and giant petroclival meningiomas / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The subtemporal transtentoral approach has been reported for nearly two decades; however it was not well used due to some limitations in dealing with large and giant petroclival meningiomas. The clinical outcome and merit of the modified subtemporal transpetrosal apex approach in large and giant petroclival meningiomas, as well as the choices, the improvements and the therapy strategies of the microsurgical approach in such patients were evaluated in this study.</p><p><b>METHODS</b>Totally 25 cases of large and giant petroclival meningiomas undergone the modified subtemporal transpetrosal apex approach between April 2004 and January 2010 were enrolled in this study. The choice and improvement of the approach, the basis of anatomy and related research, the effect of accessory equipment, the exposure of tumor and the changes of neurofunction pre- and post-operation were all reviewed retrospectively. The operation outcomes and complications in this approach were also compared with those in the transpetrous presigmoid approach done in 14 cases in the same period.</p><p><b>RESULTS</b>All 25 cases underwent the modified subtemporal transpetrosal apex approach under electrophysiologic monitoring of cranial nerves and brain stem function. Trochlear nerve was partly wrapped in 14 cases, totally wrapped but can be explored in the initial segment of the cerebellum tentorium in 8 cases, totally wrapped and could not be seen until tumor was partly removed in 3 cases. The cerebellum tentorium was cut along the temporal bone from the anterior part of the apex to the mastoid part of superior petrous sinus in 6 cases, from the posterior part of the apex to the mastoid part of superior petrous sinus in 19 cases. Gross tumor resection was accomplished in 17 (68%) patients, subtotal resection in 7 (28%) patients, and partial resection in 1 (4%) patient. The most common postoperative complication was new neurological deficits or aggravations of preexisting deficit (64%). Follow-up ranged from 3 to 69 months. Compared with the transpetrous presigmoid approach done in 14 cases in the same period, the modified subtemporal transpetrosal apex approach showed obvious advantages such as simplicity in manipulating, microinvasiveness, less time-consuming, less complication, higher rate of tumor resection though the rates of gross tumor resection might be of no significant difference.</p><p><b>CONCLUSIONS</b>Modified subtemporal transpetrosal apex approach has obvious advantages compared with the transpetrous presigmoid approach. Some complications need to be solved by practice and modification of the approach as well as the accumulation of the experiences.</p>

An experimental study of small-caliber tissue engineering vessels with acellular matrix / 中华整形外科杂志

<p><b>OBJECTIVE</b>To observe the mechanical properties of the prefabricated connective tissue tube as blood vessel substitute and its changes after implantation at the femoral artery.</p><p><b>METHODS</b>The acellular matrix tube of 8-12 cm in length with a silicone rod inside it was implanted into dog peritoneal cavity. 3 weeks later, a new formed tube around the silicone rod was transferred to the femoral artery as blood vessel substitute. The mechanical properties and histological examination of the blood vessel substitute were assessed and compared to those of the carotid artery and vein. 6 months after transfer, the patency of the blood vessels substitute was observed. The histological change was studied by light microscopy, scanning and transmitting electron microscopy.</p><p><b>RESULTS</b>(1) The mechanical properties of blood vessel substitute was not as strong as artery, but better than the vein. (2) There were elastic and collagen fibers with many fibroblasts around the tube wall, but few mesothelial cells around the inner wall. All of the blood vessel substitutes (n = 6) were found to keep patency and the structure of the blood vessels substitutes became similar to femoral artery 6 months after they had been grafted to the femoral artery.</p><p><b>CONCLUSIONS</b>These results suggest that tissue engineering in vivo is a good approach to construct vessels substitute. The tissue tubes made in dog's peritoneal cavity have good condition when it is used as a blood vessel substitutes.</p>

Decellularized aorta of fetal pigs as a potential scaffold for small diameter tissue engineered vascular graft / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>For cardiovascular tissue engineering, acellularized biomaterials from pig have been widely investigated. Our purpose was to study mechanical properties and biocompatibility of decellularized aorta of fetal pigs (DAFP) to determine its potential as scaffold for small diameter tissue engineered vascular graft.</p><p><b>METHODS</b>Descending aorta of fetal pigs was removed cells using trypsin, ribonuclease and desoxyribonuclease. Mechanical properties of DAFP were evaluated by tensile stress-strain and burst pressure analysis. Assessment of cell adhesion and compatibility was conducted by seeding porcine aortic endothelial cells. To evaluate biocompatibility in vivo, DAFP was implanted subcutaneously into adult male Sprague Dawley rats for 2, 4 and 8 weeks.</p><p><b>RESULTS</b>Histochemistry and scanning electron microscopy examination of DAFP revealed well-preserved extracellular matrix proteins and porous three-dimensional structures. Compared with fresh aorta, DAFP had similar ultimate tensile strength, axial compliance and burst pressure. Cell culture studies in vitro showed that porcine aortic endothelial cells adhered and proliferated on the surfaces of DAFP with excellent cell viability. Subdermal implantation demonstrated that the DAFP did not show almost any immunological reaction and exhibited minimal calcification during the whole follow-up period.</p><p><b>CONCLUSION</b>The DAFP has the potential to serve as scaffolds for small diameter tissue engineered vascular graft.</p>

Biocompatibility of decellularized canine carotid artery allograft cross-linked by carbodiimide / 中华整形外科杂志

<p><b>UNLABELLED</b>OBJECTIVE Crosslink decellularized canine carotid artery allograft by EDC [1-3-(dimethylamino)propyl-3-ethylcarbodiimide methiodide] and evaluate the biocompatibility of it.</p><p><b>METHODS</b>Use the multi-step detergent-enzyme method to construct decellularized canine carotid artery allograft and cross-link it by EDC with the weight ratio of decellularized artery to EDC 1:1 and 1:2. Evaluate the biocompatibility of it by the cytotoxical MTT test and the rat subdermal bury test.</p><p><b>RESULTS</b>Decellularized canine carotid artery cross-linked by EDC has a lower degradation rate treated by collagenase type II, the result of MTT test show that the EDC cross-linked decellularized artery has no cytotoxity and the rat subdermal bury test show that crosslinking greatly enhance the ability of decellularize artery to resist the enzyme degradation and lower the immune reaction. The more the artery was cross-linked , the more effects it has.</p><p><b>CONCLUSIONS</b>Decellularized canine carotid artery cross-linked by EDC has fairly good biocompatibility and ability to resist the collagenase degradation.</p>

Vascular anatomy and clinical applications of the distally based superficial sural artery island flap / 中华整形外科杂志

<p><b>OBJECTIVE</b>To document the vascular anatomy of the distally based superficial sural artery flap and to study the vascular anastomoses between the superficial sural artery and the septocutaneous perforators of the peroneal artery.</p><p><b>METHODS</b>Ten fresh human cadavers were injected with lead oxide, gelatin and water. Twenty lags were then dissected and an overall map of the cutaneous vasculature was constructed. Vascular communications between the superficial sural artery and the lowest septocutaneous perforator of the peroneal artery was evaluated to determine the cutaneous vascular territory of the superficial sural flap. The distally based superficial sural artery island flap was used in 26 cases.</p><p><b>RESULTS</b>There is constant vascular anastomosis between the superficial sural artery and the lowest septocutaneous perforator of the peroneal artery. The 26 flaps survived uneventfully except for two of partial fat necrosis.</p><p><b>CONCLUSION</b>The anatomic information enhances our understanding of flap design.</p>

Microvascular free muscle flap reconstruction of soft-tissue defects with bone exposure after the distal tibial fracture / 中华创伤骨科杂志

Objective To present a method to treat soft tissue defects with bone exposure after the distal tihial fracture.Methods Twenty-six patients who had suffered from the distal tibial fracture complications leading to exposure of the bone or fixation material sought medical help in our department.The internal fixation material was removed and radical revision of dead and infected tissue was carried out in all cases.Five of the 26 cases were treated using a free microvascular muscle flap and the mesh skin graft by one stage.Twenty-one of them were re- paired with the same method by two-stage.Results Follow-ups were 10 to 24 months.The microvascular re- construction was successful in 22 patients.Two of the 26 cases had partial necroses of the skin graft,and the other two cases had delayed wound healing.All the fractures united.Conclusion Microvascular free muscle flap re- construction of the leg is regarded as a reliable method to treat legs with massive soft-tissue defects or defects with bone exposure and chronic infection or fistulation at the distal leg.

The neurovascular anatomy and its clinical implication of the rectus femoris muscle / 中华整形外科杂志

<p><b>OBJECTIVE</b>The objective of this anatomic study was to investigate the intramuscular neurovascular configuration and to evaluate whether the muscle could be split into two functional units in transplantation.</p><p><b>METHODS</b>Ten fresh cadavers and ten preserved cadavers were used in the study. A mixture of lead oxide, gelatin and water was injected to the femoral artery of the fresh cadaver. The rectus femoris muscle with its neurovascular pedicles was dissected and radiographed.</p><p><b>RESULTS</b>Three vascular patterns of the rectus femoris muscle were found in the 40 cadaver legs. The muscle received its blood supply through a single vascular pedicle (12.5%), or a dominant pedicle with 1-2 ramified (80%), or two dominant vascular pedicles (7.5%).</p><p><b>CONCLUSIONS</b>The study provided a detailed description on the intramuscular neurovascular territories of the rectus femoris muscle. Based on the neurovascular supply of the muscle, it is possible to subdivide the muscle into two functional units for segmental muscle transfer.</p>

Transferring neurovascular rectus femoris muscle segment for treatment of facial paralysis / 中华整形外科杂志

<p><b>OBJECTIVE</b>To investigate a new technique for functional treatment of chronic facial paralysis.</p><p><b>METHODS</b>Based on anatomy of intramuscular neurovascular structure in the rectus femoris muscle, 7 consecutive patients with facial paralysis were treated by using a technique of microsurgically free-transferring neurovascular rectus femoris muscle segment to the face in one-stage. Follow-ups were 10 to 24 months.</p><p><b>RESULTS</b>All of the 7 patients showed significantly improvement in the appearance of the oral commissure and oral competence. No complications occurred in the donor site.</p><p><b>CONCLUSIONS</b>The above mentioned technique may have the advantages of preventing the intramuscular nerve and vessel from the surgical injury during splitting the muscle. It could also maintain the transferred muscular segment in a proper tension in the recipient site.</p>

The protective effect of synthetic cordyceps Sinensia Sacc powder on the liver grafts of rats / 西安交通大学学报(医学版)

Objective To investigate the protective effect of the extractions of synthetic Cordyceps Sinensia Sacc powder on cold preserved injured tissues of rat livers. Methods The extractions of synthetic Cordyceps Sinensia Sacc powder were added into LR at certain proportion. Having been preserved for 6 or 12 hours, the liver grafts of rats were reperfused for 30 minutes. And then, ATP, ADP, AMP in livers were measured and added up to total adenine nucleotide (TAN). Besides, AST, ALT, MDA, and ET in the effluent of the reperfusion were assayed. Pathological sections were studied and apoptosis index was detected by TUNEL method. Results The values of ATP, TAN in the experimental group preserved for 12 hours were significantly higher than the control group (P0.05), but the mean of the former was higher than the latter. There was obvious increase of apoptosis index (P