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A Successful Pregnancy Outcome after Surgical Decompression of Type I Arnold-Chiari Malformation
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作者 Patricia Ip Susmita Pankaja Fidelma O’Mahony 《Open Journal of Obstetrics and Gynecology》 2015年第1期44-48,共5页
Type I Arnold-Chiari malformation (ACM) usually presents in adulthood and consists of a downward displacement of the cerebellar tonsils through the foramen magnum. A 25-year-old woman presented with a 5-month history ... Type I Arnold-Chiari malformation (ACM) usually presents in adulthood and consists of a downward displacement of the cerebellar tonsils through the foramen magnum. A 25-year-old woman presented with a 5-month history of headache associated with blurred vision, tinnitus and sickness. Imaging recognised the need for surgical intervention, but whilst awaiting for surgery she fell pregnant. Considering the risks of neurological deterioration, the woman underwent surgical decompression of type I ACM at 15 weeks gestation. She subsequently presented with progressively worsening headaches during late pregnancy from 35 weeks. The obstetric plan was initially induction of labour at term but since the onset of worsening symptoms, this date was brought forward to 39 + 1 weeks gestation. She proceeded to have a normal delivery with no neonatal complications and an uneventful puerperium followed. Since the delivery, the patient reported fewer symptoms, showed no signs of neurological deficit and a repeat magnetic resonance imaging of the head showed good relief of neural compression. This case illustrates how judicious selection of the appropriate mode of delivery of women following surgically corrected ACM and a multidisciplinary approach is critical in the successful management of the antepartum period and labour. 展开更多
关键词 arnold-chiari malformation PREGNANCY ANAESTHETICS
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Resection of Intracranial Giant Cavernous Malformation: Case Report and Literature Review
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作者 Vinicios Rivelli Da Fonseca Cleverson Martins Kill +3 位作者 Mariana Alcantara Hugo Fialho Leonnan De Sa Oliveira Lucidio Souza Filho 《Surgical Science》 2024年第2期28-35,共8页
Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a c... Cerebral cavernous malformations are a rare and congenital vascular malformation that can present as a challenge in neurosurgical management. The term “giant cerebral cavernous malformations” still does not have a clear definition in the literature, with a wide variety of results. It is known, however, that there is an association between the size of the cavernoma and postoperative sequelae, especially in those with a size greater than 3 cm in its largest diameter. We present a case report of resection of a giant brain cavernoma measuring approximately 8 cm in its largest diameter, emphasizing on clinical presentation, diagnoses and postoperative evolution. Additionally, we performed a comprehensive review of the existing literature on the subject, addressing the epidemiology, pathophysiology, diagnostic methods, treatment options, and prognosis associated with this condition. 展开更多
关键词 Cavernous malformation Cerebral Cavernous malformation Giant Cavernous malformation Cavernous Hemangioma Cavernous Angioma CAVERNOMA Giant Cavernoma
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Median Nerve Somatosensory Evoked Potentials in Patients with Chiari Malformation
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作者 Mustafa Harun Sahin Gonul Vural +1 位作者 Serdar Barakli Sadiye Gumusyayla 《World Journal of Neuroscience》 CAS 2024年第1期24-32,共9页
Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information i... Abnormal SEP reflects dysfunction of the medial lemniscus and posterior cervical cord. These structures are likely to be affected in Chiari malformation. Therefore, SEP abnormalities may provide valuable information in patients with CM. However, the consistency of SEP abnormality or normality with the damage is a matter of research. Knowing whether median nerve somatosensory evoked potential (SEP) is useful in revealing subclinical damage in patients with Chiari malformation is important in the treatment and follow-up plan of the disease. The aim of this study was to investigate the relationship between median nerve SEP values and the severity of cerebellar ectopia in patients with Chiari type 1 malformation. Median nerve SEP values were obtained from 30 healthy individuals and 146 individuals with Chiari malformation. The cerebellar ectopia degree and McRae line length were measured. SEP values were not significantly different between groups. The McRae line was found to be significantly shorter in the control group than in the Chiari malformation group (p = 0.031). There was no correlation between the degree of cerebellar ectopia and the length of the McRae line (r = 0.002, p = 0.979). Neither cerebellar ectopy degree nor McRae line length had a relationship with SEP values (r = -0.153, p = 0.066;r = -0.056, p = 0.500, respectively). There was no difference in cerebellar ectopy degree or SEP values between the groups with cerebellar ectopy with and without a syrinx (p = 0.899;p = 0.080, respectively). Likewise, McRae line length was not found to be related to the presence of a syrinx (p = 0.139). Median nerve SEP examination was not beneficial for diagnosing asymptomatic-oligosymptomatic Chiari malformation as a subclinical injury, whether accompanied by syringomyelia or not. 展开更多
关键词 Chiari malformation Cerebellar Ectopy Somatosensory Evoked Potential
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Cardiac Malformations in Congenital Hypothyroidism: A Case Report
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作者 Suzanne Sap Gaelle Ntsoli +3 位作者 Jocelyn Tony Ritha Mbono Helene Kamo David Chelo 《Open Journal of Pediatrics》 2024年第2期279-284,共6页
Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ... Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients. 展开更多
关键词 Congenital Hypothyroidism Cardiac malformations CHILDREN
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Giant vascular malformations invading the skull:A case report
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作者 Ming-Chen Xie Fu-Xu Wang Jian Xu 《World Journal of Clinical Cases》 SCIE 2024年第16期2869-2875,共7页
BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face ar... BACKGROUND Vascular malformations(VMs)arise as a result of errors in the process of angiogenesis and are usually present at birth,but may not become apparent until after birth.However,giant VMs of the head and face are uncommon,with few reported cases,and the prognosis for their surgical intervention is unclear.CASE SUMMARY A 12-year-old girl was admitted to the hospital with findings of an enlarged right temporal scalp.After admission,computed tomography(CT)angiography of cerebral ateries showed a right occlusal gap and a right temporal artery venous malformation.Furthermore,cerebral angiography showed a right temporal lobe VM with multiple vessels supplying blood.The patient underwent surgery to remove the malformed vessels and the eroded skull.Two hours after the surgery,the patient's right pupil was dilated,and an urgent CT scan of the skull showed a right subdural haematoma under the incision,which was urgently removed by a second operation.After surgery,we gave continuous antibiotic anti-infection treatment,and the patient recovered well and was discharged two weeks later.CONCLUSION Surgical removal of giant haemangiomas is risky and adequate preoperative(including interventional embolisation)and intraoperative preparations should be made. 展开更多
关键词 Giant vascular malformation Early intervention Surgical intervention Interventional embolization Case report
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Appendiceal bleeding caused by vascular malformation: A case report
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作者 Qin Ma Jin-Jie Du 《World Journal of Clinical Cases》 SCIE 2024年第14期2457-2462,共6页
BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preopera... BACKGROUND Acute lower gastrointestinal bleeding(LGIB)is a common occurrence in clinical practice.However,appendiceal bleeding is an extremely rare condition that can easily be overlooked and misdiagnosed.The preoperative detection of appen-diceal bleeding often poses challenges due to the lack of related guidelines and consensus,resulting in controversial treatment approaches.CASE SUMMARY We presented a case of a 33-year-old female who complained of hematochezia that had lasted for 1 d.Colonoscopy revealed continuous bleeding in the appen-diceal orifice.A laparoscopic appendectomy was performed immediately,and a pulsating blood vessel was observed in the mesangium of the appendix,accor-dingly,active bleeding into the appendicular lumen was considered.Pathological examination revealed numerous hyperplastic vessels in the appendiceal mucosa and dilated capillary vessels.CONCLUSION The preoperative detection of appendiceal bleeding is often challenging,colo-noscopy is extremely important,bowel preparation is not routinely recommend-ed for patients with acute LGIB or only low-dose bowel preparation is recom-mended.Laparoscopic appendectomy is the most appropriate treatment for appendiceal bleeding. 展开更多
关键词 Lower gastrointestinal bleeding Appendiceal bleeding COLONOSCOPY Vas-cular malformation Laparoscopic appendectomy Case report
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The generation and properties of human cortical organoids as a disease model for malformations of cortical development 被引量:1
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作者 Xiu-Ping Zhang Xi-Yuan Wang +1 位作者 Shu-Na Wang Chao-Yu Miao 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第10期2119-2126,共8页
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
关键词 cortical development disease models human cortical organoids human cortical spheroids human pluripotent stem cells malformations of cortical development telencephalon organoids whole brain organoids
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Unexplained hyperammonemia and encephalopathy in the emergency department:Abernethy malformation in elderly patients
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作者 Yan-ying Gao Qing Tang +4 位作者 Yan-cun Liu Xiao-he Liu Bao-xin Qian Yan-fen Chai Li-jun Wang 《World Journal of Emergency Medicine》 SCIE CAS CSCD 2023年第1期69-71,共3页
Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into ... Congenital extrahepatic portosystemic shunt(CEPS),also known as Abernethy malformation,is a rare disorder characterized by the partial or complete diversion of portal blood into systemic veins.CEPS is classified into two types:typeⅠis an end-to-side portocaval shunt,whereas typeⅡis a side-to-side shunt,diverting blood from the portal vein to the inferior vena cava(IVC)(Figure 1).[1] 展开更多
关键词 malformation SHUNT PATIENTS
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Delayed versus immediate intervention of ruptured brain arteriovenous malformations:A case report
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作者 Andi Kurnia Bintang Ashari Bahar +5 位作者 Muhammad Akbar Gita Vita Soraya Anthony Gunawan Nurussyariah Hammado Mochammad Erwin Rachman Zulvikar Syambani Ulhaq 《World Journal of Clinical Cases》 SCIE 2023年第9期1992-2001,共10页
BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that defi... BACKGROUND Brain arteriovenous malformations(bAVMs)remains one of the most prevalent causes of intracranial hemorrhage and stroke-like syndromes in the young adult population.Although it has been agreed upon that definitive treatment using either single or multi-modal approach is warranted for successful bAVM management,much debate still revolves regarding the optimal timing of definitive treatment.CASE SUMMARY In this report,we present a case of delayed,definitive endovascular treatment for ruptured bAVM in a 21-year-old female,3 mo post-ictus.The bAVM,with a left pericallosal feeding artery and cortical draining veins,was successfully obliterated through embolization using the Onyx 18.On follow-up the patient has recommenced her daily activities and experiences only mild occasional headaches with mild motor deficits.The report leads to our review on an important issue regarding the optimal timing of ruptured bAVM definitive management and bring forward the current evidence available on delayed vs immediate definitive bAVM intervention.We also highlight current issues that need to be addressed for clearer guidelines on definitive therapy initiation.CONCLUSION Current treatment paradigms of ruptured bAVM remains elusive,with substantial heterogeneity in the current literature.A consensus on the definition of“acute”vs“delayed”,management goal,follow-up length and outcome parameters are required to support formation of a clear paradigm. 展开更多
关键词 Brain arteriovenous malformation Ruptured brain arteriovenous malformation Definitive intervention Endovascular treatment Case report
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Mandibular Embryonal Rhabdomyosarcoma Confused with a Vascular Malformation: About a Case
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作者 Massilia Bouhmidi Hajar Boudarbala +4 位作者 Ayad Ghannam Aziza Elouali Abdeladim Babakhouya Maria Rkain Noufissa Benajiba 《Journal of Biosciences and Medicines》 2023年第6期103-107,共5页
Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of ori... Malignant mesenchymal tumors (MTM) in children represent 5% to 10% of malignant tumors in children. They constitute a heterogeneous group of tumors of various differentiations depending on their supposed tissue of origin. They mainly include tumors of muscular origin, those derived from connective, vascular, nervous, or adipose tissue. Rhabdomyosarcoma (RMS) is the most common mesenchymal tumor in children and adolescents (60% to 70% of them). And it accounts for 5.8% of all malignant solid tumors in children. Almost half of rhabdomyosarcomas occur in the head and neck. The prognosis for this type of tumor is particularly poor. A case of rhabdomyosarcoma in the mandible with extension to the abdominal wall and unilateral testis in a 6-month-old infant is reported with evolution since birth. It is a purplish lesion at the level under the right chin which was initially taken for vascular malformation, evolving very quickly towards a mandibular mass deforming the painful face with inflammatory signs, followed by the appearance of a hard swelling under the skin on the left flank taking on the same aspect of the mandibular mass. This observation illustrates the need to know how to systematically think about tumor causes in the face of atypical aspects and to carry out an anatomopathological examination. 展开更多
关键词 RHABDOMYOSARCOMA MANDIBLE Mesenchymal Tissue Vascular malformation Abdominal Wall TESTIS
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Split Hand/Foot Malformation about Two Family Cases
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作者 Neli Yvette Ngakengni Bredel Djeri Djor Mabika +13 位作者 Gauthier J. Buambo Irene L. P. Ondima Lucie C. Ollandzobo Atipo-Ibara Lynda Gamo Tchidjo Landes C. Togho Abessou Samia M. Oya Angouma Benedicte M. Foueta Moukouba Flora Nombo Mavoungou Corinne Akouango Gnessou Nuptia C. Obengui Dhalia Y. Ngonya Mbongo Rachelle Dusabimana Bowassa Ekouya Gaston Aurore Mbika Cardorelle 《Open Journal of Pediatrics》 CAS 2023年第1期63-68,共6页
Split hand/foot malformation (SHFM), formerly known as ectrodactyly is a rare congénital anomaly, its incidence varies from 1/8.500 to 1/25.000 live birth. It mainly affects the development of the limbs, its clin... Split hand/foot malformation (SHFM), formerly known as ectrodactyly is a rare congénital anomaly, its incidence varies from 1/8.500 to 1/25.000 live birth. It mainly affects the development of the limbs, its clinical variability is standard, can present as an isolated feature or as a syndrome associated with other congenital anomalies. Our objective was to present the two cases of SHFM, and to review the literature on the clinical aspects and discuss a probable origin. The father went to school and is a driver because the malformations concerned only the fingers, were less severe, and did not prevent the realization of certain simple gestures of the daily life. On the other hand, the malformations of the fingers of the newborn were severe and the absence of the thumbs compromised the later prehension function. Also the association of a microglossia and a cleft palate contributed to a weight loss that justified hospitalization. The clinical presentation of split hands and feet is variable and the prognosis depends on the type of anomaly. Familial cases suggest a probable genetic origin. Genetic testing is necessary to establish genetic counseling. 展开更多
关键词 Split Hand/Foot malformation Isolated Form Syndromique Form Family
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Macroscopic Congenital Malformations at the Institute of Nutrition and Child Health (INSE)
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作者 M’mah Aminata Bangoura Aissata Barry +12 位作者 Salimatou Hassimiou Camara Sory Diallo Kadiatou Péthé Diallo Amadou Oury Toure Mariama Sadio Diallo Ouo Ouo Kolié Fatoumata Binta Diallo Moustapha Kouyaté Kaba Bangoura Mamadou Aliou Doukouré Emmanuel Camara Mamadou Moustapha Diop Ibrahima Sory Diallo 《Open Journal of Pediatrics》 2023年第6期879-893,共15页
Introduction: A congenital malformation is defined as a morphological abnormality of an organ or body region resulting from an abnormal developmental process during the formation of the embryo or fetus. Depending on t... Introduction: A congenital malformation is defined as a morphological abnormality of an organ or body region resulting from an abnormal developmental process during the formation of the embryo or fetus. Depending on their type, location and size, malformations can cause functional, psychological and aesthetic defects. The aim of this study is to document the frequency of congenital malformations, describe the characteristics of malformed newborns and their biological mothers, and identify the different types of malformations presented by newborns at the INSE. Methods: Descriptive cross-sectional study of clinically visible malformed newborns. It was carried out from January 1, 2021 to January 1, 2022 at the INSE neonatology unit. Epi info version 3.1 software was used for data entry and analysis. Results: Of a total of 2332 neonates hospitalized during the study period, 81 (3.5%) cases had at least one clinically visible congenital malformation. Nearly 84% had an age ≤ 7 days at the time of admission. The male sex was most concerned (60.5%). Newborns referred by a health facility accounted for 84%. Malformations of the digestive system accounted for 30.9% of cases, followed by those of the limbs (19.8%) and poly malformative syndrome (19.8%). Conclusion: This study shows that congenital malformations exist and are frequent in Guinea. Our results could therefore be the starting point for the future establishment of a national register of congenital malformations. 展开更多
关键词 Congenital malformation Institute NUTRITION Child Heath
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Overview of peripheral arteriovenous malformations:From diagnosis to treatment methods
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作者 Yuchen Shen Su Lixin +1 位作者 Deming Wang Xindong Fan 《Journal of Interventional Medicine》 2023年第4期169-174,共6页
Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associa... Based on the latest classification by the International Society for the Study of Vascular Anomalies in 2018,vascular malformations(VMs)can be categorized into simple,combined,VMs of major named vessels,and VMs associated with other anomalies.Simple VMs include lymphatic,venous,capillary,and arteriovenous malformations(AVMs).AVMs represent disorders of direct arteriovenous shunts caused by the absence of a capillary bed between the involved arteries and veins.This abnormal vascular communication causes arterial blood to accumulate in the venous vessels,thus resulting in venous hypertension and characteristic clinical manifestations,such as pulsation,tremors,and elevated temperature.AVMs can occur sporadically or as manifestations of syndromic lesions and are considered among the most complex and challenging VMs.The diagnosis and treatment of AVMs can vary depending on the lesion location and associated clinical symptoms,thus complicating their management.Herein,we discuss peripheral AVMs in terms of their clinical manifestations,imaging examinations,and staging systems to provide a comprehensive reference for the treatment,evaluation methods,and follow-up procedures for this vascular anomaly. 展开更多
关键词 Vascular anomaly Arteriovenous malformation CLASSIFICATION DIAGNOSIS TREATMENT
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Congenital Cystic Adenomatoid Malformation: A Case Report with Clinical, Radiological, Histological, and Surgical Features
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作者 Karim Lahrache Samia Malki +5 位作者 Soulaimane M’harzi Anas Ayyad Sahar Messouadi Houssain Benhaddou Amal Bennani Rim Amrani 《Open Journal of Pediatrics》 2023年第4期465-472,共8页
Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neon... Background: Congenital cystic adenomatoid malformation (CCAM) is a congenital anomaly of lung development, accounting for approximately 25% of congenital lung lesions. Respiratory distress often occurs during the neonatal period, and in 80% to 85% of cases, the diagnosis is made before the age of 2 years following respiratory infections. Case Report: We report a case of MAKC diagnosed in the neonatal period. The diagnosis was based on clinical, radiological and histological elements. Our patient underwent surgical resection. Histological examination confirmed the diagnosis of MAKC without any sign of malignancy. The postoperative evolution was good. Conclusion: Clinicians and pathologists should recognize the early discovery of MAKC in neonatal age. The clinical diagnosis strongly guided by the radiological approach is confirmed by the pathological anatomy insofar as the therapeutic sanction is surgical in the majority of the cases. 展开更多
关键词 Congenital Cystic Adenomatoid malformation Congenital Disorder Lung Respiratory Distress NEWBORN
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A Rare Case: Multiple Mandibular Arteriovenous Malformation with High Output: May a Tooth Extraction Alone Turn to a Catastrophic Condition?
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作者 Aziz Aysel Eda Aysan +2 位作者 Bilge Tuncer Mustafa Turan Ezgi Erkılıç 《Open Journal of Anesthesiology》 2023年第11期221-225,共5页
Background: Arteriovenous malformations (AVM) in mandible and neck are potentially life-threatening conditions because of possible massive hemorrhage. They are often first diagnosed by dentists as bleeding. In this ca... Background: Arteriovenous malformations (AVM) in mandible and neck are potentially life-threatening conditions because of possible massive hemorrhage. They are often first diagnosed by dentists as bleeding. In this case, we report how a tooth extraction turned to a catastrophic condition in a patient with multiple AVMs in the mandibular, submandibular and hyoid region. Case: A 19-year-old male patient diagnosed with AVMs in the mandibular and submandibular regions was admitted to our hospital with the complaint of leaky hemorrhage around the lower left 3rd molar tooth. Tooth extraction was planned after embolization procedure. The patient was intubated uneventfully using video laryngoscope. However, an acute bleeding of more than 1600 ml occurred in one minute just after the mouth opener was inserted. The patient was transferred to the Interventional Radiology and other branches of the high-flow AVM were embolized. The patient was taken back to the operating room and the tooth was extracted uneventfully. Conclusion: In AVM cases, trauma should be minimized during induction of general anesthesia and intubation should be performed gently with fiberoptic bronchoscopy or video laryngoscopy. We conclude that a multidisciplinary approach as applied to our patient would be valuable in such cases. 展开更多
关键词 Arteriovenous malformations Tooth Extraction Anesthetic Management
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Absolute ethanol embolization for treatment of peripheral arteriovenous malformations
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作者 Jingwei Zhou Chen Hua +3 位作者 Xi Yang Yuxi Chen Yunbo Jin Xiaoxi Lin 《Chinese Journal Of Plastic and Reconstructive Surgery》 2023年第3期136-140,共5页
Arteriovenous malformations(AVMs)are aggressive congenital high-flow vascular anomalies,in which the feeding artery and draining vein are connected through fistulas without normal capillary networks.In severe cases,th... Arteriovenous malformations(AVMs)are aggressive congenital high-flow vascular anomalies,in which the feeding artery and draining vein are connected through fistulas without normal capillary networks.In severe cases,the condition may cause swelling,ulceration,bleeding,and even heart failure.Various treatment options are available for AVMs,including laser,surgical resection,embolization,and targeted drug therapy.With the development of endovascular treatment technology,absolute ethanol embolization of AVMs has become one of the first-line therapies owing to its sustained efficacy and low recurrence rate.However,administration of this therapy is challenging and may lead to serious complications if inappropriately managed.In this article,we reviewed and summarized previous clinical articles,literature reviews,and clinical trial data to comprehensively describe clinical manifestations of AVMs,the mechanism of ethanol embolotherapy,key points in treatment and management of complications,and issues that need to be addressed.We expect to provide a reliable information reference source for clinical physicians and researchers. 展开更多
关键词 Arteriovenous malformation EMBOLIZATION ETHANOL
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A benchtop brain injury model using resected donor tissue from patients with Chiari malformation
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作者 Jacqueline A.Tickle Jon Sen +5 位作者 Christopher Adams David N.Furness Rupert Price Viswapathi Kandula Nikolaos Tzerakis Divya M.Chari 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第5期1057-1061,共5页
The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability ... The use of live animal models for testing new therapies for brain and spinal cord repair is a controversial area. Live animal models have associated ethical issues and scientific concerns regarding the predictability of human responses. Alternative models that replicate the 3 D architecture of the central nervous system have prompted the development of organotypic neural injury models. However, the lack of reliable means to access normal human neural tissue has driven reliance on pathological or post-mortem tissue which limits their biological utility. We have established a protocol to use donor cerebellar tonsillar tissue surgically resected from patients with Chiari malformation(cerebellar herniation towards the foramen magnum, with ectopic rather than diseased tissue) to develop an in vitro organotypic model of traumatic brain injury. Viable tissue was maintained for approximately 2 weeks with all the major neural cell types detected. Traumatic injuries could be introduced into the slices with some cardinal features of post-injury pathology evident. Biomaterial placement was also feasible within the in vitro lesions. Accordingly, this ‘proof-of-concept’ study demonstrates that the model offers potential as an alternative to the use of animal tissue for preclinical testing in neural tissue engineering. To our knowledge, this is the first demonstration that donor tissue from patients with Chiari malformation can be used to develop a benchtop model of traumatic brain injury. However, significant challenges in relation to the clinical availability of tissue were encountered, and we discuss logistical issues that must be considered for model scale-up. 展开更多
关键词 biomaterial Chiari malformation cerebellar slice human tissue injury model NEUROREGENERATION ORGANOTYPIC traumatic brain injury
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Whole mount of adult ear skin as a model to study vascular malformations
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作者 Brandee Decker-Rockefeller Qingfen Li Kevin Pumiglia 《Animal Models and Experimental Medicine》 CAS CSCD 2023年第4期362-368,共7页
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
关键词 animal disease models pathological angiogenesis PIK3CA RAPAMYCIN vascular malformations
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MEK inhibitors for the treatment of extracranial arteriovenous malformations
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作者 Zi’an Xu Jingwei Zhou +4 位作者 Yuxi Chen Xi Yang Chen Hua Yunbo Jin Xiaoxi Lin 《Chinese Journal Of Plastic and Reconstructive Surgery》 2023年第3期141-144,共4页
Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and c... Arteriovenous malformations(AVMs)are serious congenital vascular anomalies in which the arteries connect directly with veins without capillaries.This condition will continue to worsen without proper intervention and cause ulcers,repeated hemorrhages,and even cardiac insufficiency.Primary treatment options for AVMs include surgery and interventional treatment;however,they are associated with high risk and recurrence rates.Recent studies revealed that excessive activation of the Ras/MAPK pathway can induce the formation and development of peripheral AVM,whereas MEK inhibitors can effectively control nidus progression,making them a potential novel treatment for AVM.This review provides an up-to-date overview of correlated laboratory and clinical research to provide information for further research and clinical practice. 展开更多
关键词 Arteriovenous malformation MEK1 MEKi Trametinib MAPK
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Type II Abernethy malformation with cystic fibrosis in a 12-year-old girl:A case report
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作者 Li-Jie Zhang Xing-Yu Liu +2 位作者 Teng-Fei Chen Zhong-Ya Xu Han-Jun Yin 《World Journal of Clinical Cases》 SCIE 2023年第32期7865-7871,共7页
BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosoma... BACKGROUND Abernethy malformation,also known as congenital extrahepatic portosystemic shunt,is an uncommon malformation resulting from aberrant development of the portal venous system.Cystic fibrosis(CF)is an autosomal recessive genetic disease caused by mutations in the CFTR gene.It mainly affects the exocrine glands of the respiratory,digestive and reproductive systems.It is considered extremely rare in the Asian population.We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.CASE SUMMARY A 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis,and chest computed tomography(CT)showed bronchiectasis.Whole exome sequencing was performed for the patient,yielding findings that revealed a compound heterozygous variant of the CFTR gene:c.233_c.234insT/p.Trp79fsTer3(maternal origin);c.2909G>A/p.Gly970Asp(paternal origin).CF was diagnosed.The physician’s attention was drawn to the presence of splenomegaly during disease progression.Abdominal enhanced CT revealed splenomegaly,compression of the left kidney,and multiple tortuous dilated vascular shadows were seen at the splenic hilum,which flowed back into the left renal vein and portal vein,suggesting Abernethy malformation type II.Intraoperatively,the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing,and the pathology of liver biopsy showed hypoplastic,dilated or absent portal vein branches,both of which supported the diagnosis of Abernethy malformation type II.This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.CONCLUSION Coexisting Abernethy malformation and CF are rare.Detailed medical history information,abdominal enhanced CT,venography and genetic testing contribute to diagnosis as well as differential diagnosis. 展开更多
关键词 Abernethy malformation Cystic fibrosis CFTR gene Case report
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