Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to blee...Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to bleeding.When both lesions coexist,the DVA’s altered venous pressure and flow can promote CM formation or rupture.Detecting a DVA abutting an otherwise unexplained intracerebral hemorrhage can therefore raise suspicion of an occult CM as a likely cause,a clue which may be invaluable for daily clinical practice.The main focus of this review is to acknowledge the hallmark imaging appearances of DVAs and CMs,as well as their coexistence,explore the clinical consequences of mixed lesions,and emphasize that recognizing their partnership is vital for an accurate,timely diagnosis and appropriately targeted management.展开更多
Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol i...Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol injection(REI)to address this issue.Methods:Iopromide is mixed with ethanol to achieve radiopacity and improve the physicochemical properties of the solution.Overall,82 male New Zealand white rabbits are selected for in vivo radiopacity testing,peripheral vein sclerosis[animals were divided into the following 5 groups(n=6):negative control(NC,saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),low-dose REI(L-D REI,0.125 ml/kg),moderate-dose REI(M-D REI,0.250 ml/kg),and highdose REI(H-D REI 0.375 ml/kg)],pharmacokinetic analyses(the blood sample was harvested before injection,5 min,10 min,20 min,40 min,1 h,2 h,4 h,and 8 h after injection in peripheral vein sclerosis experiment),peripheral artery embolization[animals were divided into the following 5 groups(n=3):NC(saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)],kidney transcatheter arterial embolization[animals were divided into the following 4 groups(n=3):positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg);each healthy kidney was injected with saline as negative control],and biosafety evaluations[animals were divided into the following 5 groups(n=3):NC(0.250 ml/kg),high-dose EtOH(0.375 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)].Then,a prospective cohort study involving 6 patients with peripheral venous malformations(VMs)is performed to explore the clinical safety and effectiveness of REI.From Jun 1,2023 to August 31,2023,6 patients[age:(33.3±17.2)years]with lingual VMs received sclerotherapy of REI and 2-month follow-up.Adverse events and serious adverse events were evaluated,whereas the efficacy of REI was determined by both the traceability of the REI under DSA throughout the entire injection and the therapeutic effect 2 months after a single injection.Results:The REI contains 81.4%ethanol(v/v)and 111.3 mg/ml iodine,which can be traced throughout the injection in the animals and patients.The REI also exerts a similar effect as EtOH on peripheral venous sclerosis,peripheral arterial embolization,and renal embolization.Furthermore,the REI can be metabolized at a similar rate compared to EtOH and Ultravist^(®)and did not cause injury to the animals’heart,liver,spleen,lungs,kidneys and brain.No REIrelated adverse effects have occurred during sclerotherapy of VMs,and 4/6 patients(66.7%)have achieved complete response at follow-up.Conclusion:In conclusion,REI is safe,exerts therapeutic effects,and compensates for the radiolucency of EtOH in treating VMs.Trial registration:The clinical trial was registered as No.ChiCTR2300071751 on May 242023.展开更多
Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem...Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem cells,leading to fetal malformations and abnormal structural and physiological functions in the fetal brain.This review summarizes the current understanding of how HCMV infection dysregulates the Wnt signaling pathway to induce fetal malformations and discusses current management strategies.展开更多
Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant ele...Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant electrodes in patients with inner ear malformations,and determine the value of 3D segmentation in predicting cochlear implant electrode insertion depth by simulating electrode implantation in a reconstructed 3D model.Methods:Data from 208 temporal bone CT scans of patients with a variety of inner ear malformations(including the CH,IP-Ⅰ,IP-Ⅱ,and IP-Ⅲtypes)who underwent cochlear implantation at our center were retrospectively analyzed.Preoperative temporal bone CT data were subjected to three-dimensional(3D)segmentation of the cochlea with a 3D slicer.Results:Cochlear malformation types,including IP typesⅠ(42 ears),Ⅱ(278ears),Ⅲ(20 ears),and CH(65 ears),were diagnosed and measured in 208 preoperative CT datasets.Cochlear anatomical parameters and electrode length were correlated,which partially explained the variations in electrode insertion angle.The mean angle of implantation among the enrolled patients was 564.33°,and the mean implantation angle prediction error in the 3D segmentation was|23.74|°.Conclusion:Three-dimensional segmentation from temporal bone CT is valuable for surgeons,especially in treating patients with inner ear malformation.Such insights will help surgeons understand overall anatomical variations,predict electrode implantation depth,and complete preoperative imaging assessments for cochlear implant insertion depth in patients with inner ear malformations.展开更多
Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an a...Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an asymptomatic birthmark to fulminant。展开更多
Infants with congenital deafness caused by severe bilateral inner ear malformations frequently suffer from severe hearing loss and poor balance. Unfortunately, the use of hearing aids is usually ineffective in recover...Infants with congenital deafness caused by severe bilateral inner ear malformations frequently suffer from severe hearing loss and poor balance. Unfortunately, the use of hearing aids is usually ineffective in recovering hearing, necessitating cochlear implants. We report a case of a 6-year-old boy with congenital deafness and bilateral inner ear malformations(right side, incomplete partition type I [IP-I]; left side, common cavity deformity). Hearing aids had a remarkable effect in this patient, enabling sufficient and favorable hearing recovery such as to allow the patient to engage in daily conversations. Per-rotatory nystagmus was recorded on an electronystagmogram for both right and left rotations in a damped rotational chair test. It is rare for deaf children with severe bilateral inner ear malformation to demonstrate favorable development in hearing and good equilibrium function. Our findings suggest that auditoryevestibular hair cells in this patient may have been partially preserved despite IP-I in the right ear and common cavity deformity of the left ear.展开更多
As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and mani...As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and manipulation.Human cortical organoids derived from human pluripotent stem cells can elaborately replicate many of the key properties of human cortical development at the molecular,cellular,structural,and functional levels,including the anatomy,functional neural network,and interaction among different brain regions,thus facilitating the discovery of brain development and evolution.In addition to studying the neuro-electrophysiological features of brain cortex development,human cortical organoids have been widely used to mimic the pathophysiological features of cortical-related disease,especially in mimicking malformations of cortical development,thus revealing pathological mechanism and identifying effective drugs.In this review,we provide an overview of the generation of human cortical organoids and the properties of recapitulated cortical development and further outline their applications in modeling malformations of cortical development including pathological phenotype,underlying mechanisms and rescue strategies.展开更多
Venous malformations(VMs) are the most common vascular developmental anomalies. There are many controversies over VMs in Chinese clinical medical practice. Experts on the panel from vascular-anomaly centers in China r...Venous malformations(VMs) are the most common vascular developmental anomalies. There are many controversies over VMs in Chinese clinical medical practice. Experts on the panel from vascular-anomaly centers in China reviewed the etiology, pathophysiology, epidemiology, classification, clinical presentations, diagnosis, and treatment of VMs. The aim of this consensus document is to provide recommendations for, and assist clinicians and patients in, the diagnosis and treatment of VMs.展开更多
Objective While associations between the angioarchitecture of arteriovenous malformations （AVMs） in the brain and pathological features have been described, here we investigated the relationship between the angioarc...Objective While associations between the angioarchitecture of arteriovenous malformations （AVMs） in the brain and pathological features have been described, here we investigated the relationship between the angioarchitecture, the pathological features of the vessel wall, and hemorrhagic events. Methods The study was conducted on 43 patients： 16 with ruptured AVM （rAVM）, 15 with non-ruptured AVM （nrAVM）, 6 with craniocerebral trauma （control） and 6 with epilepsy （control）. The diagnosis of AVM was confirmed by preoperative digital subtraction angiography. Tissues were stained with hematoxylin and eosin and Masson＇s trichrome （for collagen fibers） to evaluate the vessel wall structure and endothelial integrity. The content and distribution of collagen types I and III in the vessel wall were assessed by immunohistochemical staining. Results In the nrAVM group, the nidus had more draining veins than the rAVM group （P 〈0.05）. Severely damaged endothelial cells, significantly fewer smooth muscle cells in the media, and hyperplasic type-I and -III collagen fibers were found in the rAVM group. The content of collagen types I and III in rAVMs was higher than that in the nrAVM （P 〈0.05） and control groups （P 〈0.01）. Conclusion There is an association between angioarchitectural features such as the number of draining veins and the pathological structure of the AVM wall. These abnormalities may contribute to AVM rupture.展开更多
Background: Brain malformations (BMs) are congenital abnormalities of the shape or structure of the brain, with corpus callosum agenesis known as the most frequent. Diagnosis of most BMs can be prenatal with ultrasoun...Background: Brain malformations (BMs) are congenital abnormalities of the shape or structure of the brain, with corpus callosum agenesis known as the most frequent. Diagnosis of most BMs can be prenatal with ultrasound and fetal magnetic resonance imaging (MRI);post-natal diagnosis is based on transfontanellar ultrasound, CT-scan, and head MRI which is the imaging gold standard technique. MRI has been recently introduced and the CT-scan was previously the reference technique for the diagnosis of BMs in our context. Almost no publication has been made in sub-Saharan Africa on the clinical and CT scan characteristics of Brain malformations in children. Objective: The aim of this study was, in the absence of MRI, to describe the clinical and CT-scan presentations of brain malformations in children at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (YGOPH). Patients and method: This was a cross-sectional descriptive study conducted from February to May 2016 at the YGOPH, including all children of 15-year-old and less with BM diagnosed on CT-scan at YGOPH between April 2006 and March 2016. The studied variables were clinical (age at diagnosis, sex, clinical manifestations) and CT findings (type of cerebral malformation). The data was analyzed using the SPSS 20.0 software with the estimation of hospital prevalence of BMs, frequencies and associations. The chi-square test was used to seek for an association between variables. The threshold of significance was p Results: The prevalence of BMs was 0.52%, with 29 cases of BMs identified out of 5590 patients followed up at the pediatric neurology outpatient unit over a period of 10 years. The mean age at diagnosis was 37.2 months (3.1 years) and the most represented age groups were 0 - 1 year (37.9%) and 1 - 5 years (37.9%). The sex ratio was 0.81 (55.2% girls). The clinical presentation was represented by neurological signs (93.1%) with convulsions (65.5%) and psychomotor retardation (58.8%) associated with skin lesions (34.5%) and/or facial dysmorphic features (27.6%). BM was suspected on antenatal ultrasound in 14.3% of cases (4/28). Abnormalities of cortical development accounted for 65.5% of BM followed by abnormalities of brain separation (31%). Tuberous sclerosis complex was the most common BM (31%) followed by agenesis of the corpus callosum (27.6%). The presence of dysmorphic facial features was associated (p = 0.007) with disorders of brain separation (DBS) while the presence of cutaneous lesions was associated (p = 0.013) with anomalies of the cortical development (ACD) especially tuberous sclerosis complex. Conclusion: BMs are infrequent, dominated by tuberous sclerosis complex and agenesis of the corpus callosum. They are mainly revealed by convulsions and psychomotor retardation. Efforts are needed to improve antenatal diagnosis and facilitate access to cerebral MRI.展开更多
The term "hemangioma" refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrec...The term "hemangioma" refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called "cavernous hemangioma". Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.展开更多
In this study, we determined the expression levels of matrix metalloproteinase-2 and -9 and matrix metalloproteinase tissue inhibitor-1 and -2 in brain tissues and blood plasma of patients undergoing surgery for cereb...In this study, we determined the expression levels of matrix metalloproteinase-2 and -9 and matrix metalloproteinase tissue inhibitor-1 and -2 in brain tissues and blood plasma of patients undergoing surgery for cerebellar arteriovenous malformations or primary epilepsy （control group）. Immunohistochemistry and enzyme-linked immunosorbent assay revealed that the expression of matrix metalloproteinase-9 and matrix metalloproteinase tissue inhibitor-1 was significantly higher in patients with cerebellar arteriovenous malformations than in patients with primary epilepsy. The ratio of matrix metalloproteinase-9 to matrix metalloproteinase tissue inhibitor-1 was significantly higher in patients with hemorrhagic cerebellar arteriovenous malformations compared with those with non-hemorrhagic malformations. Matrix metalloproteinase-2 and matrix metalloproteinase tissue inhibitor-2 levels were not significantly changed. These findings indicate that an imbalance of matrix metalloproteinase-9 and matrix metalloproteinase tissue inhibitor-I, resulting in a relative overabundance of matrix metalloproteinase-9, might be the underlying mechanism of hemorrhage of cerebellar arteriovenous malformations.展开更多
BACKGROUND： In the process of vascularization, vascular endothelial growth factor （VEGF）, angiopoietin-2 and Tie2 are involved in the migration, differentiation and proliferation of vascular endothelial cells, and ...BACKGROUND： In the process of vascularization, vascular endothelial growth factor （VEGF）, angiopoietin-2 and Tie2 are involved in the migration, differentiation and proliferation of vascular endothelial cells, and stimulate the rapid angiogenesis; Tiel and angiopoietin-1 play important roles in facilitating the formation of vascular lumen and maintaining the integrity of vascular wall. Thus the distributions and expressions may be associated with the occurrence of cerebral arteriovenous malformation. OBJECTIVE： To observe the biological effects of angiogenic factors in the occurrence and development of cerebral arteriovenous malformation. DESIGN： An observational comparative experiment. SETTINGS： Department of Neurosurgery, General Hospital of Shenyang Military Area Command of Chinese PLA; Department of Neurosurgery, General Hospital of Tianjin Medical University. PARTICIPANTS： Fresh samples of complete cerebral arteriovenous malformations resected in 47 patients were collected from the Department of Neurosurgery, General Hospital of Tianjin Medical University from August 1999 to May 2001, including 22 males and 25 females, the mean age was 34.5 years. Informed consents were obtained from all the patients or their relatives. The initial symptom was hemorrhage in 28 cases. All the patients were classified according to the clinical imaging data and Spetzler-Martin grading standard, including 11 cases of grade Ⅰ, 17 cases of grade Ⅱ, 11 cases of grade Ⅲ, and 8 cases of grade Ⅳ - Ⅴ. Normal brain tissues resected by decompression due to trauma were taken from 8 patients as controls, including 5 males and 3 females, aging 12 - 65 years. METHODS： ① The expressions of VEGF, Tie receptors, angiopoietin-1, angiopoietin-2, proto-oncogene c-myc and proliferating cell nuclear antigen（PCNA） in the samples of cerebral arteriovenous malformation were detected with immunohistochemical method. Under light microscope, the positively stained rat-anti-human factor Ⅷ-related antigens （specific marker of vascular endothelial cells） were counted, then the immuno-positive cells of the other antibodies in the visual field of neighboring section which was in ＂mirror＂ relation were counted, and the percentage of the latter to the former was considered as the labeling index of positive cells. The immunostaining intensity was classified negative （ - ）： no positive cells; positive （＋）： number of positive cells 〈 20%; moderately positive （＋＋）： number of positive cells 20% - 50%; strongly positive （＋＋＋）： number of positive cells 〉 50%. ② The differences of the enumeration data were compared with chi-squam test, and the correlation were analyzed with the linear correlation analysis. MAIN OUTCOME MEASURES： Expressions and distributions of VEGF, Tie 1 and Tie2 receptors, angiopoietin-1, angiopoietin-2, PCNA and c-myc in the samples of cerebral arteriovenons malformation and normal brain tissue. RESULTS： ① Expressions of angiogenic factors in the control group and cerebral arteriovenons malformation groups of each grade： The positive rates of VEGF, Tie2, angiopoietin-2, c-myc and PCNA expressions in the control group were significantly different from those in the cerebral arteriovenous malformation groups of each grade （ x^2=21.09 - 34.23, P 〈 0.05）, whereas the positive rates of Tiel and angiopoietin-1 expressions were close （ x^2=3.43 - 3.869, P 〉 0.05）. ② Expressions of angiogenic factors in hemorrhage group and non-hemorrhage group： The expressions of VEGF, angiopoietin-2 and PCNA in the hemorrhage group were significantly lower than those in the non-hemorrhage group （ x^2= 16.22 - 26.56, P 〈 0.05）. There ware no obvious differences in the expressions of Tiel and angiopoietin-1 expressions between the hemorrhage group and non-hemorrhage group （ x^2=3.22 - 3.78, P 〉 0.05）.The VEGF was positively correlated with the expressions of c-myc and PCNA （r = 0.728, 0.916, P 〈 0.05）. CONCLUSION： ①The expressions of angiogenic factors and related receptors may be involved in the process of cerebral arteriovenous malformation, and had important correlation the its clinical grading. ② Angiogenic factors may induce the expression of endothelial cell c-myc in cerebral arteriovenous malformation, and then interfere the cell proliferation and apoptosis.展开更多
A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reporte...A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a swollen aspect in both calfs. The skin appeared normal without deformities and the arterial pulsations were intact. An X-ray did not show abnormalities in the tibia. Magnetic resonance imaging of the legs revealed bilateral multiple saccular intramuscular venous malformations involving the soleus muscle. Intramuscular venous malformations in skeletal muscles are rare, especially when the occurrence is bilateral. Bilateral venous malformations have the potential to be missed because of the intramuscular localization. Symptoms of intramuscular venous malformation can be often mild and overlap with nonexercise related compartment syndrome, claudication, lymphedema and post thrombotic syndrome or muscle strains.展开更多
Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducibl...Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.展开更多
Brain arteriovenous malformations(AVMs)are abnormal vessels that are prone to rupture,ausing life threatening intracerebral hemorrhage(ICH).Understanding the moleaular basis of pathogenesis,timely diagnosis,and treatm...Brain arteriovenous malformations(AVMs)are abnormal vessels that are prone to rupture,ausing life threatening intracerebral hemorrhage(ICH).Understanding the moleaular basis of pathogenesis,timely diagnosis,and treatment of brain AVMs are some of the urgent problems in neur osur gery.MiaoRNAs(miRNAs)are small endogenous RNAs that regulate gene-epression psttranscriptionally.MiRNAs are involved in almost all biological procsss,induding cell proliferation,apoptosis,and cell differentiation.Recent studies have shown that miRNAs an be involved in brain AVMs formation and rupture.There are also extracellular forms of miRNAs.Circulating miRNAs have been detected in the blood circulation and other body fluids.Owing to their stability and resistance to endogenous RNase activity,circulating miRNAs have been proposed as diagnostic and prognostic biomarkers for various diseases,such as tumors,cardiovascular and autoimmune diseases.In this review,we summarized the role of some miRNAs in brain AVMs pathogenesis and discussed their potential cdinical appliation as non-invasive biomarkers.展开更多
BACKGROUND Isolated gastrointestinal venous malformations(GIVMs)are extremely rare congenital developmental abnormalities of the venous vasculature.Because of their asymptomatic nature,the diagnosis is often quite cha...BACKGROUND Isolated gastrointestinal venous malformations(GIVMs)are extremely rare congenital developmental abnormalities of the venous vasculature.Because of their asymptomatic nature,the diagnosis is often quite challenging.However,as symptomatic GIVMs have nonspecific clinical manifestations,misdiagnosis is very common.Here,we report a case of isolated diffuse GIVMs inducing mechanical intestinal obstruction.A literature review was also conducted to summarize clinical features,diagnostic points,treatment selections and differential diagnosis in order that doctors may have a comprehensive understanding of this disease.CASE SUMMARY A 50-year-old man presented with recurrent painless gastrointestinal bleeding for two months and failure to pass flatus and defecate with nausea and vomiting for ten days.Digital rectal examination found bright red blood and soft nodular masses 3 cm above the anal verge.Computed tomography showed that part of the descending colon and rectosigmoid colon was thickened with phleboliths in the intestinal wall.Colonoscopy exhibited bluish and reddish multinodular submucosal masses and flat submucosal serpentine vessels.Endoscopic ultrasonography showed anechoic cystic spaces within intestinal wall.The lesions were initially thought to be isolated VMs involving part of the descending colon and rectosigmoid colon.Laparoscopic subtotal proctocolectomy,pullthrough transection and coloanal anastomosis and ileostomy were performed.Histopathology revealed intact mucosa and dilated,thin-walled blood vessels in the submucosa,muscularis,and serosa involving the entire colorectum.The patient recovered with complete symptomatic relief during the 52-mo follow-up period.CONCLUSION The diagnosis of isolated GIVMs is challenging.The information presented here is significant for the diagnosis and management of symptoms.展开更多
For further reaseach on endovascular embolization treatment of AVMs, 54 patients with AVMs treated with embolization were observed. It was found that embolization was an effective procedure for the treatment of AVMs. ...For further reaseach on endovascular embolization treatment of AVMs, 54 patients with AVMs treated with embolization were observed. It was found that embolization was an effective procedure for the treatment of AVMs. Combined treatment of AVMs with presurgical embolization and direct surgery could reduce the comphcations resulting from large and high flow AVMs with lone surgical removal.展开更多
BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,tr...BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,treatment is only rehabilitation and surgery for cleft lip and palate.CASE SUMMARY The proband was a 2-years-8-months-old girl.Familial history was negative for congenital malformations or intellectual disability.The patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and palate.Brain magnetic resonance imaging showed cortical atrophy and band heterotopia.Her motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were detected.CONCLUSION There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion.We describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular defect.Additional clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.展开更多
Objective The aim of this study is to evaluate the embolization techniques, as well as the effects and complications, using the non-adhesive liquid embolic material Onyx in intracranial arteriovenous malformations(AVM...Objective The aim of this study is to evaluate the embolization techniques, as well as the effects and complications, using the non-adhesive liquid embolic material Onyx in intracranial arteriovenous malformations(AVMs). Methods The study comprises a retrospective analysis of 250 patients with intracranial AVMs treated with Onyx in Guangdong General Hospital from Jan 2010 to Dec 2017. The therapeutic strategies, as well as embolization effects and complications, of Onyx are summarized. Results Of 250 cases, 170 were male and 80 were female. Following the Spetzler–Martin(S-M) grading system, there were 35 cases of grade Ⅰ, 77 of grade Ⅱ, 72 of grade Ⅲ, 39 of grade Ⅳ, and 27 of grade V. All cases were treated with Onyx. In addition, 69 cases were treated with Glubran glue. The injected volume of Onyx per patient ranged from 1 mL to 10 mL. The largest volume of Onyx injected in one procedure was 10 mL. The cure rate was 67.9%(76/112) of grade Ⅰ-Ⅱ patients, 15.0%(11/72) of grade Ⅲ patients, 7.7%(3/39) of grade Ⅳ patients, and 0%(0/27) of grade V patients. The total cure rate was 36.0%(90/250). The average number of targeted vascular branches per patient was 2.28. The microcatheter broke off in two cases. There were two patients who suffered an intracranial hemorrhage during the embolic procedure; in one of these two patients, the microcatheter also broke off. There were two patients who suffered an intracranial hemorrhage after the embolic procedure; one of them died. Seven cases suffered new-onset neurological deficits or their original symptoms deteriorated. Six of them improved or recovered within 3–6 months. The total complication rate was 5.2%(13/250). Conclusion The application of Onyx in intracranial AVMs is flexible, effective and safe, and may also reduce the complications.展开更多
文摘Developmental venous anomalies(DVAs)are benign congenital veins that collect normal brain drainage into a single outlet.Cerebral cavernous malformations(CMs)are clusters of thin-walled capillary cavities prone to bleeding.When both lesions coexist,the DVA’s altered venous pressure and flow can promote CM formation or rupture.Detecting a DVA abutting an otherwise unexplained intracerebral hemorrhage can therefore raise suspicion of an occult CM as a likely cause,a clue which may be invaluable for daily clinical practice.The main focus of this review is to acknowledge the hallmark imaging appearances of DVAs and CMs,as well as their coexistence,explore the clinical consequences of mixed lesions,and emphasize that recognizing their partnership is vital for an accurate,timely diagnosis and appropriately targeted management.
基金supported by the Transverse Research Project of Shanghai Ninth People’s Hospital(JYHX2022007)the Clinical Research Program of Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine(JYLJ202111).
文摘Background:Despite the efficacy of absolute ethanol(EtOH),its radiolucency introduces several risks in interventional therapy for treating vascular malformations.This study aims to develop a novel radiopaque ethanol injection(REI)to address this issue.Methods:Iopromide is mixed with ethanol to achieve radiopacity and improve the physicochemical properties of the solution.Overall,82 male New Zealand white rabbits are selected for in vivo radiopacity testing,peripheral vein sclerosis[animals were divided into the following 5 groups(n=6):negative control(NC,saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),low-dose REI(L-D REI,0.125 ml/kg),moderate-dose REI(M-D REI,0.250 ml/kg),and highdose REI(H-D REI 0.375 ml/kg)],pharmacokinetic analyses(the blood sample was harvested before injection,5 min,10 min,20 min,40 min,1 h,2 h,4 h,and 8 h after injection in peripheral vein sclerosis experiment),peripheral artery embolization[animals were divided into the following 5 groups(n=3):NC(saline,0.250 ml/kg),positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)],kidney transcatheter arterial embolization[animals were divided into the following 4 groups(n=3):positive control(EtOH,0.250 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg);each healthy kidney was injected with saline as negative control],and biosafety evaluations[animals were divided into the following 5 groups(n=3):NC(0.250 ml/kg),high-dose EtOH(0.375 ml/kg),L-D REI(0.125 ml/kg),M-D REI(0.250 ml/kg),and H-D REI(0.375 ml/kg)].Then,a prospective cohort study involving 6 patients with peripheral venous malformations(VMs)is performed to explore the clinical safety and effectiveness of REI.From Jun 1,2023 to August 31,2023,6 patients[age:(33.3±17.2)years]with lingual VMs received sclerotherapy of REI and 2-month follow-up.Adverse events and serious adverse events were evaluated,whereas the efficacy of REI was determined by both the traceability of the REI under DSA throughout the entire injection and the therapeutic effect 2 months after a single injection.Results:The REI contains 81.4%ethanol(v/v)and 111.3 mg/ml iodine,which can be traced throughout the injection in the animals and patients.The REI also exerts a similar effect as EtOH on peripheral venous sclerosis,peripheral arterial embolization,and renal embolization.Furthermore,the REI can be metabolized at a similar rate compared to EtOH and Ultravist^(®)and did not cause injury to the animals’heart,liver,spleen,lungs,kidneys and brain.No REIrelated adverse effects have occurred during sclerotherapy of VMs,and 4/6 patients(66.7%)have achieved complete response at follow-up.Conclusion:In conclusion,REI is safe,exerts therapeutic effects,and compensates for the radiolucency of EtOH in treating VMs.Trial registration:The clinical trial was registered as No.ChiCTR2300071751 on May 242023.
基金supported by the Natural Science Foundation of Shandong Province(ZR2019MC059)the Traditional Chinese Medicine Science Project of Shandong Province(M-2023093)the Weifang Municipal Science and Technology Development Program(2025YX037).
文摘Human cytomegalovirus(HCMV)poses a significant risk of neural damage during pregnancy.As the most prevalent intrauterine infectious agent in low-and middle-income countries,HCMV disrupts the development of neural stem cells,leading to fetal malformations and abnormal structural and physiological functions in the fetal brain.This review summarizes the current understanding of how HCMV infection dysregulates the Wnt signaling pathway to induce fetal malformations and discusses current management strategies.
基金supported by the National Key Research and Development Program of China(grant no.2022YFC2402705)National Municipal Natural Science Foundation(grant no.82471161)Beijing Municipal Natural Science Foundation(grant no.7244308)。
文摘Objective:The aims of this study were to investigate the clinical applicability of 3D segmentation in measuring cochlear anatomical parameters,explore factors that influence the insertion angle of cochlear implant electrodes in patients with inner ear malformations,and determine the value of 3D segmentation in predicting cochlear implant electrode insertion depth by simulating electrode implantation in a reconstructed 3D model.Methods:Data from 208 temporal bone CT scans of patients with a variety of inner ear malformations(including the CH,IP-Ⅰ,IP-Ⅱ,and IP-Ⅲtypes)who underwent cochlear implantation at our center were retrospectively analyzed.Preoperative temporal bone CT data were subjected to three-dimensional(3D)segmentation of the cochlea with a 3D slicer.Results:Cochlear malformation types,including IP typesⅠ(42 ears),Ⅱ(278ears),Ⅲ(20 ears),and CH(65 ears),were diagnosed and measured in 208 preoperative CT datasets.Cochlear anatomical parameters and electrode length were correlated,which partially explained the variations in electrode insertion angle.The mean angle of implantation among the enrolled patients was 564.33°,and the mean implantation angle prediction error in the 3D segmentation was|23.74|°.Conclusion:Three-dimensional segmentation from temporal bone CT is valuable for surgeons,especially in treating patients with inner ear malformation.Such insights will help surgeons understand overall anatomical variations,predict electrode implantation depth,and complete preoperative imaging assessments for cochlear implant insertion depth in patients with inner ear malformations.
文摘Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas that can be encountered in the practice of medicine. The clinical presentations are extremely protean and can range from an asymptomatic birthmark to fulminant。
文摘Infants with congenital deafness caused by severe bilateral inner ear malformations frequently suffer from severe hearing loss and poor balance. Unfortunately, the use of hearing aids is usually ineffective in recovering hearing, necessitating cochlear implants. We report a case of a 6-year-old boy with congenital deafness and bilateral inner ear malformations(right side, incomplete partition type I [IP-I]; left side, common cavity deformity). Hearing aids had a remarkable effect in this patient, enabling sufficient and favorable hearing recovery such as to allow the patient to engage in daily conversations. Per-rotatory nystagmus was recorded on an electronystagmogram for both right and left rotations in a damped rotational chair test. It is rare for deaf children with severe bilateral inner ear malformation to demonstrate favorable development in hearing and good equilibrium function. Our findings suggest that auditoryevestibular hair cells in this patient may have been partially preserved despite IP-I in the right ear and common cavity deformity of the left ear.
基金supported by the National Natural Science Foundation of China(Major Project),No.82030110(to CYM)the National Natural Science Foundation(Youth Program),No.82003754(to SNW)+1 种基金Medical Innovation Major Project,No.16CXZ009(to CYM)Shanghai Science and Technology Commission Projects,Nos.20YF1458400(to SNW)and 21140901000(to CYM)。
文摘As three-dimensional“organ-like”aggregates,human cortical organoids have emerged as powerful models for studying human brain evolution and brain disorders with unique advantages of humanspecificity,fidelity and manipulation.Human cortical organoids derived from human pluripotent stem cells can elaborately replicate many of the key properties of human cortical development at the molecular,cellular,structural,and functional levels,including the anatomy,functional neural network,and interaction among different brain regions,thus facilitating the discovery of brain development and evolution.In addition to studying the neuro-electrophysiological features of brain cortex development,human cortical organoids have been widely used to mimic the pathophysiological features of cortical-related disease,especially in mimicking malformations of cortical development,thus revealing pathological mechanism and identifying effective drugs.In this review,we provide an overview of the generation of human cortical organoids and the properties of recapitulated cortical development and further outline their applications in modeling malformations of cortical development including pathological phenotype,underlying mechanisms and rescue strategies.
基金supported by grant from the National Natural Science Foundation of China,China(No.81871458)
文摘Venous malformations(VMs) are the most common vascular developmental anomalies. There are many controversies over VMs in Chinese clinical medical practice. Experts on the panel from vascular-anomaly centers in China reviewed the etiology, pathophysiology, epidemiology, classification, clinical presentations, diagnosis, and treatment of VMs. The aim of this consensus document is to provide recommendations for, and assist clinicians and patients in, the diagnosis and treatment of VMs.
基金supported by National Natural Science Foundation of China (30973112)
文摘Objective While associations between the angioarchitecture of arteriovenous malformations （AVMs） in the brain and pathological features have been described, here we investigated the relationship between the angioarchitecture, the pathological features of the vessel wall, and hemorrhagic events. Methods The study was conducted on 43 patients： 16 with ruptured AVM （rAVM）, 15 with non-ruptured AVM （nrAVM）, 6 with craniocerebral trauma （control） and 6 with epilepsy （control）. The diagnosis of AVM was confirmed by preoperative digital subtraction angiography. Tissues were stained with hematoxylin and eosin and Masson＇s trichrome （for collagen fibers） to evaluate the vessel wall structure and endothelial integrity. The content and distribution of collagen types I and III in the vessel wall were assessed by immunohistochemical staining. Results In the nrAVM group, the nidus had more draining veins than the rAVM group （P 〈0.05）. Severely damaged endothelial cells, significantly fewer smooth muscle cells in the media, and hyperplasic type-I and -III collagen fibers were found in the rAVM group. The content of collagen types I and III in rAVMs was higher than that in the nrAVM （P 〈0.05） and control groups （P 〈0.01）. Conclusion There is an association between angioarchitectural features such as the number of draining veins and the pathological structure of the AVM wall. These abnormalities may contribute to AVM rupture.
文摘Background: Brain malformations (BMs) are congenital abnormalities of the shape or structure of the brain, with corpus callosum agenesis known as the most frequent. Diagnosis of most BMs can be prenatal with ultrasound and fetal magnetic resonance imaging (MRI);post-natal diagnosis is based on transfontanellar ultrasound, CT-scan, and head MRI which is the imaging gold standard technique. MRI has been recently introduced and the CT-scan was previously the reference technique for the diagnosis of BMs in our context. Almost no publication has been made in sub-Saharan Africa on the clinical and CT scan characteristics of Brain malformations in children. Objective: The aim of this study was, in the absence of MRI, to describe the clinical and CT-scan presentations of brain malformations in children at the Yaounde Gynaeco-Obstetric and Pediatric Hospital (YGOPH). Patients and method: This was a cross-sectional descriptive study conducted from February to May 2016 at the YGOPH, including all children of 15-year-old and less with BM diagnosed on CT-scan at YGOPH between April 2006 and March 2016. The studied variables were clinical (age at diagnosis, sex, clinical manifestations) and CT findings (type of cerebral malformation). The data was analyzed using the SPSS 20.0 software with the estimation of hospital prevalence of BMs, frequencies and associations. The chi-square test was used to seek for an association between variables. The threshold of significance was p Results: The prevalence of BMs was 0.52%, with 29 cases of BMs identified out of 5590 patients followed up at the pediatric neurology outpatient unit over a period of 10 years. The mean age at diagnosis was 37.2 months (3.1 years) and the most represented age groups were 0 - 1 year (37.9%) and 1 - 5 years (37.9%). The sex ratio was 0.81 (55.2% girls). The clinical presentation was represented by neurological signs (93.1%) with convulsions (65.5%) and psychomotor retardation (58.8%) associated with skin lesions (34.5%) and/or facial dysmorphic features (27.6%). BM was suspected on antenatal ultrasound in 14.3% of cases (4/28). Abnormalities of cortical development accounted for 65.5% of BM followed by abnormalities of brain separation (31%). Tuberous sclerosis complex was the most common BM (31%) followed by agenesis of the corpus callosum (27.6%). The presence of dysmorphic facial features was associated (p = 0.007) with disorders of brain separation (DBS) while the presence of cutaneous lesions was associated (p = 0.013) with anomalies of the cortical development (ACD) especially tuberous sclerosis complex. Conclusion: BMs are infrequent, dominated by tuberous sclerosis complex and agenesis of the corpus callosum. They are mainly revealed by convulsions and psychomotor retardation. Efforts are needed to improve antenatal diagnosis and facilitate access to cerebral MRI.
文摘The term "hemangioma" refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called "cavernous hemangioma". Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.
文摘In this study, we determined the expression levels of matrix metalloproteinase-2 and -9 and matrix metalloproteinase tissue inhibitor-1 and -2 in brain tissues and blood plasma of patients undergoing surgery for cerebellar arteriovenous malformations or primary epilepsy （control group）. Immunohistochemistry and enzyme-linked immunosorbent assay revealed that the expression of matrix metalloproteinase-9 and matrix metalloproteinase tissue inhibitor-1 was significantly higher in patients with cerebellar arteriovenous malformations than in patients with primary epilepsy. The ratio of matrix metalloproteinase-9 to matrix metalloproteinase tissue inhibitor-1 was significantly higher in patients with hemorrhagic cerebellar arteriovenous malformations compared with those with non-hemorrhagic malformations. Matrix metalloproteinase-2 and matrix metalloproteinase tissue inhibitor-2 levels were not significantly changed. These findings indicate that an imbalance of matrix metalloproteinase-9 and matrix metalloproteinase tissue inhibitor-I, resulting in a relative overabundance of matrix metalloproteinase-9, might be the underlying mechanism of hemorrhage of cerebellar arteriovenous malformations.
文摘BACKGROUND： In the process of vascularization, vascular endothelial growth factor （VEGF）, angiopoietin-2 and Tie2 are involved in the migration, differentiation and proliferation of vascular endothelial cells, and stimulate the rapid angiogenesis; Tiel and angiopoietin-1 play important roles in facilitating the formation of vascular lumen and maintaining the integrity of vascular wall. Thus the distributions and expressions may be associated with the occurrence of cerebral arteriovenous malformation. OBJECTIVE： To observe the biological effects of angiogenic factors in the occurrence and development of cerebral arteriovenous malformation. DESIGN： An observational comparative experiment. SETTINGS： Department of Neurosurgery, General Hospital of Shenyang Military Area Command of Chinese PLA; Department of Neurosurgery, General Hospital of Tianjin Medical University. PARTICIPANTS： Fresh samples of complete cerebral arteriovenous malformations resected in 47 patients were collected from the Department of Neurosurgery, General Hospital of Tianjin Medical University from August 1999 to May 2001, including 22 males and 25 females, the mean age was 34.5 years. Informed consents were obtained from all the patients or their relatives. The initial symptom was hemorrhage in 28 cases. All the patients were classified according to the clinical imaging data and Spetzler-Martin grading standard, including 11 cases of grade Ⅰ, 17 cases of grade Ⅱ, 11 cases of grade Ⅲ, and 8 cases of grade Ⅳ - Ⅴ. Normal brain tissues resected by decompression due to trauma were taken from 8 patients as controls, including 5 males and 3 females, aging 12 - 65 years. METHODS： ① The expressions of VEGF, Tie receptors, angiopoietin-1, angiopoietin-2, proto-oncogene c-myc and proliferating cell nuclear antigen（PCNA） in the samples of cerebral arteriovenous malformation were detected with immunohistochemical method. Under light microscope, the positively stained rat-anti-human factor Ⅷ-related antigens （specific marker of vascular endothelial cells） were counted, then the immuno-positive cells of the other antibodies in the visual field of neighboring section which was in ＂mirror＂ relation were counted, and the percentage of the latter to the former was considered as the labeling index of positive cells. The immunostaining intensity was classified negative （ - ）： no positive cells; positive （＋）： number of positive cells 〈 20%; moderately positive （＋＋）： number of positive cells 20% - 50%; strongly positive （＋＋＋）： number of positive cells 〉 50%. ② The differences of the enumeration data were compared with chi-squam test, and the correlation were analyzed with the linear correlation analysis. MAIN OUTCOME MEASURES： Expressions and distributions of VEGF, Tie 1 and Tie2 receptors, angiopoietin-1, angiopoietin-2, PCNA and c-myc in the samples of cerebral arteriovenons malformation and normal brain tissue. RESULTS： ① Expressions of angiogenic factors in the control group and cerebral arteriovenons malformation groups of each grade： The positive rates of VEGF, Tie2, angiopoietin-2, c-myc and PCNA expressions in the control group were significantly different from those in the cerebral arteriovenous malformation groups of each grade （ x^2=21.09 - 34.23, P 〈 0.05）, whereas the positive rates of Tiel and angiopoietin-1 expressions were close （ x^2=3.43 - 3.869, P 〉 0.05）. ② Expressions of angiogenic factors in hemorrhage group and non-hemorrhage group： The expressions of VEGF, angiopoietin-2 and PCNA in the hemorrhage group were significantly lower than those in the non-hemorrhage group （ x^2= 16.22 - 26.56, P 〈 0.05）. There ware no obvious differences in the expressions of Tiel and angiopoietin-1 expressions between the hemorrhage group and non-hemorrhage group （ x^2=3.22 - 3.78, P 〉 0.05）.The VEGF was positively correlated with the expressions of c-myc and PCNA （r = 0.728, 0.916, P 〈 0.05）. CONCLUSION： ①The expressions of angiogenic factors and related receptors may be involved in the process of cerebral arteriovenous malformation, and had important correlation the its clinical grading. ② Angiogenic factors may induce the expression of endothelial cell c-myc in cerebral arteriovenous malformation, and then interfere the cell proliferation and apoptosis.
文摘A 75-year-old man presented with knee pain due to medial osteoarthritis of the knee in the orthopedic outpatient clinic. Conservative treatment was started with steroid infiltration. Besides his knee complaint reported a bilateral painless swollen calf muscle without traumatic cause, and also without any pain at night, fever or medical illness. On physical examination the soleus muscle had a swollen aspect in both calfs. The skin appeared normal without deformities and the arterial pulsations were intact. An X-ray did not show abnormalities in the tibia. Magnetic resonance imaging of the legs revealed bilateral multiple saccular intramuscular venous malformations involving the soleus muscle. Intramuscular venous malformations in skeletal muscles are rare, especially when the occurrence is bilateral. Bilateral venous malformations have the potential to be missed because of the intramuscular localization. Symptoms of intramuscular venous malformation can be often mild and overlap with nonexercise related compartment syndrome, claudication, lymphedema and post thrombotic syndrome or muscle strains.
基金David E.Bryant TrustLeopold Fund for Vascular AnomaliesNational Institutes of Health,Grant/Award Number:1R01HL151679。
文摘Background:Genetic analysis in human patients has linked mutations in PIK3CA,the catalytic subunit of PI-3′Kinase,to sporadic incidences of vascular malformations.Methods:We have developed a mouse model with inducible and endothelial-specific expression of PIK3CA H1047R,resulting in the development of vascular malformations.Systemic induction of this mutation in adult mice results in rapid lethality,limiting our ability to track and study these lesions;therefore,we developed a topical and local induction protocol using the active metabolite of tamoxifen,4OH-T,on the ear skin of adults.Results:This approach allows us to successfully model the human disease in a mature and established vascular bed and track the development of vascular malformations.To validate the utility of this model,we applied a topical rapamycin ointment,as rapamycin is therapeutically beneficial to patients in clinical trials.We found that the induced ear lesions showed significant attenuation after treatment,which was easily quantified.Conclusions:These data collectively provide evidence of a new model to study vascular malformations in adult tissues,which should be particularly useful in environments lacking specialized small-animal imaging facilities.
基金supported by National Natural Science Foundations of China(81971135)Natural Science Foundations of Heilongjiang(YQ2020H014)+2 种基金“Chunhui Plan”of Ministry of Education(HLJ2019009)Distinguished Young Foundations of the First Afiliated Hospital of Harbin Medical University(HYD2020JQ0014)The reported study was funded by RFBR and NSFC,Project No.21-515-53017.
文摘Brain arteriovenous malformations(AVMs)are abnormal vessels that are prone to rupture,ausing life threatening intracerebral hemorrhage(ICH).Understanding the moleaular basis of pathogenesis,timely diagnosis,and treatment of brain AVMs are some of the urgent problems in neur osur gery.MiaoRNAs(miRNAs)are small endogenous RNAs that regulate gene-epression psttranscriptionally.MiRNAs are involved in almost all biological procsss,induding cell proliferation,apoptosis,and cell differentiation.Recent studies have shown that miRNAs an be involved in brain AVMs formation and rupture.There are also extracellular forms of miRNAs.Circulating miRNAs have been detected in the blood circulation and other body fluids.Owing to their stability and resistance to endogenous RNase activity,circulating miRNAs have been proposed as diagnostic and prognostic biomarkers for various diseases,such as tumors,cardiovascular and autoimmune diseases.In this review,we summarized the role of some miRNAs in brain AVMs pathogenesis and discussed their potential cdinical appliation as non-invasive biomarkers.
文摘BACKGROUND Isolated gastrointestinal venous malformations(GIVMs)are extremely rare congenital developmental abnormalities of the venous vasculature.Because of their asymptomatic nature,the diagnosis is often quite challenging.However,as symptomatic GIVMs have nonspecific clinical manifestations,misdiagnosis is very common.Here,we report a case of isolated diffuse GIVMs inducing mechanical intestinal obstruction.A literature review was also conducted to summarize clinical features,diagnostic points,treatment selections and differential diagnosis in order that doctors may have a comprehensive understanding of this disease.CASE SUMMARY A 50-year-old man presented with recurrent painless gastrointestinal bleeding for two months and failure to pass flatus and defecate with nausea and vomiting for ten days.Digital rectal examination found bright red blood and soft nodular masses 3 cm above the anal verge.Computed tomography showed that part of the descending colon and rectosigmoid colon was thickened with phleboliths in the intestinal wall.Colonoscopy exhibited bluish and reddish multinodular submucosal masses and flat submucosal serpentine vessels.Endoscopic ultrasonography showed anechoic cystic spaces within intestinal wall.The lesions were initially thought to be isolated VMs involving part of the descending colon and rectosigmoid colon.Laparoscopic subtotal proctocolectomy,pullthrough transection and coloanal anastomosis and ileostomy were performed.Histopathology revealed intact mucosa and dilated,thin-walled blood vessels in the submucosa,muscularis,and serosa involving the entire colorectum.The patient recovered with complete symptomatic relief during the 52-mo follow-up period.CONCLUSION The diagnosis of isolated GIVMs is challenging.The information presented here is significant for the diagnosis and management of symptoms.
文摘For further reaseach on endovascular embolization treatment of AVMs, 54 patients with AVMs treated with embolization were observed. It was found that embolization was an effective procedure for the treatment of AVMs. Combined treatment of AVMs with presurgical embolization and direct surgery could reduce the comphcations resulting from large and high flow AVMs with lone surgical removal.
基金Supported by PAEP,2018 and PAPIIT IN219419,DGAPA,Universidad Nacional Autónoma de México,No.IN219419.
文摘BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,treatment is only rehabilitation and surgery for cleft lip and palate.CASE SUMMARY The proband was a 2-years-8-months-old girl.Familial history was negative for congenital malformations or intellectual disability.The patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and palate.Brain magnetic resonance imaging showed cortical atrophy and band heterotopia.Her motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were detected.CONCLUSION There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion.We describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular defect.Additional clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.
基金supported by Guangzhou Science and Technology Program key projects,China grant number 2014J4100042Guangdong Science and Technology Department,China grant number 2013B021B00179
文摘Objective The aim of this study is to evaluate the embolization techniques, as well as the effects and complications, using the non-adhesive liquid embolic material Onyx in intracranial arteriovenous malformations(AVMs). Methods The study comprises a retrospective analysis of 250 patients with intracranial AVMs treated with Onyx in Guangdong General Hospital from Jan 2010 to Dec 2017. The therapeutic strategies, as well as embolization effects and complications, of Onyx are summarized. Results Of 250 cases, 170 were male and 80 were female. Following the Spetzler–Martin(S-M) grading system, there were 35 cases of grade Ⅰ, 77 of grade Ⅱ, 72 of grade Ⅲ, 39 of grade Ⅳ, and 27 of grade V. All cases were treated with Onyx. In addition, 69 cases were treated with Glubran glue. The injected volume of Onyx per patient ranged from 1 mL to 10 mL. The largest volume of Onyx injected in one procedure was 10 mL. The cure rate was 67.9%(76/112) of grade Ⅰ-Ⅱ patients, 15.0%(11/72) of grade Ⅲ patients, 7.7%(3/39) of grade Ⅳ patients, and 0%(0/27) of grade V patients. The total cure rate was 36.0%(90/250). The average number of targeted vascular branches per patient was 2.28. The microcatheter broke off in two cases. There were two patients who suffered an intracranial hemorrhage during the embolic procedure; in one of these two patients, the microcatheter also broke off. There were two patients who suffered an intracranial hemorrhage after the embolic procedure; one of them died. Seven cases suffered new-onset neurological deficits or their original symptoms deteriorated. Six of them improved or recovered within 3–6 months. The total complication rate was 5.2%(13/250). Conclusion The application of Onyx in intracranial AVMs is flexible, effective and safe, and may also reduce the complications.
