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Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation

Science China(Life Sciences) 2019年第7期62卷 886-894页

作者： Wei Guo Yanli Nie Zhiqiang Yan Xiaohui Zhu Yuqian Wang Shuo Guan Ying Kuo Wenxin Zhang Xu Zhi Yuan Wei Liying Yan Jie Qiao Center for Reproductive Medicine Department of Obstetrics and GynecologyPeking University Third HospitalBeijing 100191China Key Laboratory of Assisted Reproduction Ministry of EducationBeijing 100191China Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction Beijing 100191China Bering Advanced Innovation Center for Genomics Peking UniversityBeijing 100871China Peking-Tsinghua Center for Life Sciences Peking UniversityBeijing 100871China

Birth defects are caused by multiple factors,such as chromosome abnormality,environmental factors,and maternal factors.In this study,we focused on exploring the genetic causes of a non-consanguineous couple who suffered from four times of unsuccessful pregnancy due to unexplained recurrent fetal malformations with similar symptoms and normal chromosome copy number variations.Using trio-whole exome sequencing(trio-WES) for this couple and one of the affected fetuses,we found a mutation,c.1996 delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband,leading to Schaaf-Yang syndrome.To screen this mutation,we further performed preimplantation genetic diagnosis(PGD) strategy followed by a gene pedigree validation and pathogenicity analysis.After the transfer of a PGD-screened embryo,a normal newborn without previous abnormal symptoms was born(February 15,2019).We present the first data that identified a pathogenic gene(MAGEL2 c.1996 delC) in a fetus with Schaaf-Yang syndrome in the EAS(East Asian) database and overcame this genetic defect by using processed PGD for this couple based on the WES results.

关键词： unexplained recurrent fetal malformations whole exome sequencing (WES) preimplantation genetic diagnosis (PGD) Schaaf-Yang syndrome

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A New Technique for Transvenous Embolization of Brain Arteriovenous malformations in Hybrid Operation

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Chinese Medical Journal 2018年第24期131卷 2993-2996页

作者： Ming-Ze Wang Han-Cheng Qiu Shuo Wang Yong Cao Meng Zhao Ji-Zong Zhao Department of Neurosurgery Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China China National Clinical Research Center for Neurological Diseases Beijing 100070China Center of Stroke Beijing Institute for Brain DisordersBeijing 100070China Beijing Key Laboratory of Translational Medicine for Cerebrovascular Disease Beijing 100070China

To the Editor:Eliminating a nidus was deemed to be the key to curing brain arteriovenous malformations (bAVMs).When conducting interventional embolization,it was suggested to superselect the microcatheter close to the nidus before injecting embolic agents.The traditional embolization was conducted via arterial approaches,which required the accessibility of arterial feeders.Difficulties and risks increased in the cases with lesions with narrow calibers,tortuous courses,or "en passage" arterial supplies.Transvenous approaches were proved to be safe and effective accesses in bAVM embolization without the limitations of arteries, The current transvenous approaches were established through femoral and cervical veins.

关键词： Transvenous Embolization Brain Arteriovenous malformations Hybrid Operation

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A child with severe inner ear malformations with favorable hearing utilization and balance functions after wearing hearing aids

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Journal of Otology 2017年第1期12卷 41-46页

作者： Yusuke Kimura Takeshi Masuda Akifumi Tomizawa Hideaki Sakata Kimitaka Kaga National Institute of Sensory Organs National Tokyo Medical Center Tokyo Japan Department of OtolaryngologyeHead and Neck Surgery Nihon University School of Medicine Tokyo Japan Department of Speech Language and Hearing Therapy Mejiro University Saitama Japan Kawagoe Otology Institute Saitama Japan

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.

关键词： Congenital hearing loss Inner ear malformations Rotation chair test

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Painless swollen calf muscles of a 75-year-old patient caused by bilateral venous malformations

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World Journal of Orthopedics 2017年第7期8卷 602-605页

作者： Roderick S M Piekaar Eline W Zwitser Paul P A Hedeman Joosten Joris A Jansen Department of orthopaedic surgery Alrijne Hospital Department of vascular surgery Alrijne Hospital

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.

关键词： Venous malformations Bilateral intramuscular venous malformation Swollen calf muscles

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Updated classification and therapy of vascular malformations in pediatric patients

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Pediatric Investigation 2018年第2期2卷 119-123页

作者： Bin Zhang Lin Ma Department of Dermatology Beijing Children's Hospital Capital Medical University National Center for Children's Health Beijing China

Vascular malformations (VMs) comprise a diverse group of diagnoses.They are classified by the type of vessel involved,including capillaries,veins,arteries,lymphatic vessels,or combinations of these.Complex VMs,although benign,can impair vital structures,cause deformations,or even threaten the child's life.Although multimodal treatment of VMs in children with disease include a wide variety of options such as observation,laser therapy,sclerotherapy,surgical resection,radiofrequency ablation,and medical therapy,the management of VMs necessitates a multifocal and multidisciplinary method with the patient's quality of life as the priority.

关键词： Children Therapy Vascular malformations

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Embolization of feeding arteries and symptom alleviation of mixed dural-pial arteriovenous malformations

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Chinese Neurosurgical Journal 2018年第2期4卷 59-64页

作者： Hengwei Jin Hong Qiu Chang Chen Huijian Ge Youxiang Li Hongwei He Department of Interventional Neuroradiology Beijing Neurosurgical Institute and Beijing Tiantan HospitalCapital Medical UniversityNo.6Tiantan XiliDongchengBeijing 100050China Neurosurgery Department Xintai Hospital of Traditional Chinese MedicineTai’anShandong 271200China Beijing Engineering Research Center for Interventional Neuroradiology No.6Tiantan XiliDongchengBeijing 100050China

Background: To examine whether embolization of dural or pial blood supply branch is more efficient for symptom alleviation for unruptured mixed dural-pial arteriovenous malformations (DPAVMs). Methods: We retrospectively reviewed 30 DPAVM patients from a database of 425 consecutive cerebral arteriovenous malformation (CAVM) patients who underwent endovascular embolization between January 2010 and December 2015 at our institution. Demographics, angioarchitectural characteristics, endovascular embolization details and patients clinical outcomes were recorded. The modified Rankin Scale (mRS), Engel‘s classification and Visual Analogue pain scale (VAS) were used to assess clinical outcomes. Results: The single center cohort data shows that the incidence of DPAVM is 7.1%. Among the 30 DPAVM patients, 9 (30.0%) are ruptured and 21 (70.0%) are unruptured. Four (19.0%) of the 21 unruptured DPAVM patients are failed to follow-up, leaving 17 to analysis the clinical outcomes. Clinical presentations of the 17 unruptured DPAVM patients are epilepsy (n=10), headache (n=5) and focal neurological dysfunction (n=2). Six patients have DPAVMs occluded via pial blood supply branches, 4 via dural branches and 7 via both pial and dural branches. Unruptured DPAVM patients with nidus occluded via dural blood supply branches, or both pial and dural branches have higher symptom alleviation rate than patients with nidus occluded via pial branches (100%/85.7% vs 66.7%). Conclusions: For DPAVM patients presented with epilepsy, headache and FND, embolization via dural blood supply branches may be more efficient for symptom alleviation. Large cohort study is needed to confirm the generalizability.

关键词： Mixed dural-pial arteriovenous malformations Endovascular treatment Clinical outcome

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Endovascular transvenous treatment for superficial intracranial arteriovenous malformations

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Journal of Interventional Medicine 2019年第3期2卷 109-112页

作者： WeiXing Bai YanYan He YingKun He Bin Xu TianXiao Li YuMing Xu Department of Neurology The First Affiliated Hospital of Zhengzhou UniversityZhengzhou450052China Department of Cerebrovascular Disease Henan Provincial People’s HospitalZhengzhou University People’s HospitalHenan University People’s HospitalAnd Henan Provincial Neurointerventional Engineering Research CenterZhengzhou450003China

Objective:The objective of this study was to evaluate the feasibility and outcomes of transvenous endovascular embolization(TVE) for superficial intracranial arteriovenous malformations(AVMs).Methods:After collecting clinical and imaging data,a prospective series of 11 patients presenting with superficial AVMs were treated by endovascular embolization using a transvenous approach between November 2016 and October 2018.Results:Ten patients(90.9%) had ruptured AVMs before TVE.The mean nidus size was 3.27 ± 1.47 cm,and the median Spetzler-Martin grade was II.The rate of immediate angiographic occlusion of the AVMs was 90.9%(10/11).One patient was treated with transarterial embolization since TVE was not achieved due to an unsuccessful positioning of the microcatheter.Two patients(cases 8 and 11) suffered a intracranial hemorrhage and a cerebral infarction with encephaledema,respectively,but no procedure-related mortalities were observed.Eight patients(72.7%) were independent with a modified Rankin Score(mRS) 2 at discharge and the m RSs of all patients,which were collected 30 days postintervention,were not more than 2.The mean follow-up period was 17 months.There were no nidus recurrences during the follow-up period.Conclusions:The curative transvenous embolization of superficial AVMs seems feasible and effective while carefully monitoring for embolization-related complications.

关键词： AVM USA MRI intracranial arteriovenous malformations

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Cavernous brain malformations and their relation to black blood MRI in respect to vessel wall contrast enhancement

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Chinese Neurosurgical Journal 2018年第2期4卷 65-68页

作者： Athanasios K.Petridis Marian P.Suresh Jan F.Cornelius Richard Bostelmann Maxine Dibué-Adjei Lan Li Marcel A.Kamp Hans Jakob Steiger Bernd Turowski Rebecca May Department of Neurosurgery Heinrich Heine University DüsseldorfMoorenstr 540225 DüsseldorfGermany Diagnostic and Interventional Neuroradiology Heinrich Heine University DüsseldorfDüsseldorfGermany LivaNova Deutschland(a LivaNova PLC-owned subsidiary) Lindberghstr 2580939 MunichGermany

Background: Inflammatory responses are implicated as crucial patho-mechanisms of vascular brain malformations. Inflammation is suggested to be a key contributor to aneurysm rupture; however it is unclear whether inflammation contributes similarly to bleeding of cerebral cavernous malformations (CCMs). Black blood MRI is a sequence which identifies inflammation in blood vessel walls and in the present study is used to detect inflammatory response in CCMs. Methods: Fifteen patients with 17 CCMs treated in our department in 2017 were retrospectively analysed. All patients received black blood MRIs and the results were analysed in correlation with, size and bleeding of CCMs. Results: Size and bleeding status of CCMs did not correlate with contrast enhancement in the CCM wall. One of 3 patients with bleeding displayed contrast enhancement in black blood MRI, whereas the others had non enhancing lesions. Because of the small number of cases a statistical analysis was not performed. Conclusion: In this limited cohort, inflammatory reactions in CCMs could not be detected by black blood MRI suggesting that the level of inflammation is minimal in these lesions and those different patho-mechanisms play a more important role in the rupture of CCMs.

关键词： Cavernous malformations Inflammation Black blood MRI

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Diagnosis and treatment of venous malformations in China: consensus document

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Journal of Interventional Medicine 2018年第4期1卷 191-196页

作者： Deming Wang Lixin Su Xindong Fan Department of Interventional Therapy Shanghai Ninth People Hospital School of Medicine Shanghai Jiaotong University

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.

关键词： venous malformations consensus diagnosis treatment

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Embolizing intracranial arteriovenous malformations with Onyx: experience at a single center with 250 patients

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Journal of Interventional Medicine 2018年第3期1卷 164-169页

作者： Xianming Deng Mengqi Dong Chao Peng Xiaowen Ding Kun Wang Kun Qin Guangzhong Chen Department of Neurosurgery Guangdong General Hospital Institute of Neuroscience Guangdong Academy of Medical Sciences Southern Medical University

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.

关键词： intracranial arteriovenous malformations embolization treatment treatment outcome complication Onyx

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