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https://www.readbyqxmd.com/read/29774379/-agenesis-of-the-corpus-callosum
#1
REVIEW
J M Lieb, F J Ahlhelm
CLINICAL ISSUE: Agenesis of the corpus callosum is reported to have an incidence of about 1:4000 live births. In 30-45% of cases, genetic etiologies can be identified, e. g., 10% chromosomal anomalies and 20-35% genetic syndromes. Environmental factors like fetal alcohol syndrome are also known to be prone to callosal agenesis. Callosal agenesis can be complete or partial and can be isolated or associated with other central nervous system (CNS) anomalies (e. g., cortical developmental disorders, callosal lipoma, intracranial cysts) or extra-CNS anomalies (e...
May 17, 2018: Der Radiologe
https://www.readbyqxmd.com/read/29774173/role-of-interventional-radiology-in-the-management-of-peripheral-vascular-malformations-a-tertiary-care-center-experience
#2
Misbah Tahir, Muhammad Anees Mumtaz, Anum Sultan, Jawaid Iqbal, Raza Sayani
Peripheral vascular malformations (PVMs) represent a wide spectrum of vascular abnormalities occurring due to anomalous connections between arteries, veins, capillaries, and lymphatic channels at the microscopic level, in different combinations. They are rare and challenging to treat. Different operators may have different approaches based on their experience and expertise. Sclerotherapy either alone or in combination with embolization has been used as an independent method for the treatment of PVMs. Purpose The aim of this study is to assess the safety and efficacy of sclerotherapy and embolization, with or without surgery, for the treatment of peripheral vascular malformations, based on our approach...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29772322/free-omental-flap-for-tissue-defect-coverage-after-resection-of-complicated-venous-malformation-in-the-area-of-the-knee
#3
Nicla Settembre, Mario D'Oria, Lucie DekerlE, Charbel Saba, Zakariyae Bouziane, Serguei Malikov
Venous malformations are the most common slow-flow vascular malformations; they are not prone to volume decrease over time and invasive treatment is usually required. There are two main techniques to address the definitive therapy of these lesions: sclerotherapy and surgical excision, each with its own advantages and disadvantages. We report the case of a 56 year-old man who came to our attention with persistent pain after multiple unsuccessful attempts to treat a large venous malformation located in the area of the right knee...
May 14, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29766474/masses-of-developmental-and-genetic-origin-affecting-the-paediatric-craniofacial-skeleton
#4
REVIEW
Salvatore Stefanelli, Pravin Mundada, Anne-Laure Rougemont, Vincent Lenoir, Paolo Scolozzi, Laura Merlini, Minerva Becker
Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Less common lesions include torus mandibularis and torus palatinus, cherubism, nevoid basal cell carcinoma syndrome, meningoencephalocele and nasal sinus tract...
May 15, 2018: Insights Into Imaging
https://www.readbyqxmd.com/read/29755904/radiation-induced-cavernous-malformation-as-a-late-sequelae-of-stereotactic-radiosurgery-for-epilepsy
#5
Ethan A Winkler, Caleb Rutledge, Mariann Ward, Tarik Tihan, Patricia K Sneed, Nicholas Barbaro, Paul Garcia, Michael McDermott, Edward F Chang
Stereotactic radiosurgery (SRS) is a promising treatment for medically intractable mesial temporal lobe epilepsy. SRS for epilepsy has had an acceptable safety profile with reports of radiation-induced vascular malformations confined to central nervous system pathologies with prominent angiogenesis - namely, primary brain tumors, metastases, and arteriovenous malformations. Theoretical risks for radiation-induced lesions following radiosurgery for epilepsy have yet to be established. Of 13 patients treated in a pilot trial for medial temporal lobe epilepsy, one developed multiple delayed radiation-induced cavernous malformations following radiosurgery...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29752013/-lymphedema-in-patients-treated-with-sirolimus-15-cases
#6
C Fourgeaud, L Simon, B Benoughidane, S Vignes
BACKGROUND: Sirolimus is a mammalian target of rapamycin (mTOR) inhibitor used after organ transplantation and to treat vascular malformations. Among its adverse effects, limb lymphedema has been described. OBJECTIVE: The aim of this study was to analyze the clinical features, lymphoscintigraphy and lymphedema outcome in patients treated with sirolimus. PATIENTS AND METHODS: Monocentric retrospective study from January 2008 to September 2017 analyzing all consecutive patients having lymphedema occurring with sirolimus...
May 8, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29747435/the-use-of-transarterial-approaches-in-peripheral-arteriovenous-malformations-avms
#7
REVIEW
Aditya Khurana, Patrick T Hangge, Hassan Albadawi, M-Grace Knuttinen, Sadeer J Alzubaidi, Sailendra G Naidu, J Scott Kriegshauser, Rahmi Oklu, Brian W Chong
Arteriovenous malformations (AVMs) are a subset of congenital vascular malformations (CVMs). They comprise abnormal connections between arterial and venous circulation; treatment approaches are dependent on the angioarchitecture of the AVM, specifically the number and arrangement of the feeder arteries and outflow veins. Various imaging modalities can be used to diagnose and plan treatment. Here we will review the use of transarterial approaches to treat AVMs.
May 9, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29747258/-the-auricle-arteriovenous-vascular-malformation-one-case-report
#8
J Y Zhang, W Y Wang, Q Q Zhang, H N Jiang
No abstract text is available yet for this article.
April 7, 2018: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/29744329/incidental-case-of-left-lung-hypoplasia-in-a-postabortal-young-female
#9
Darshan Kumar Bajaj, Ras Kushwaha, Rajiv Garg, Jyoti Bajpai, Abhishek Dubey, Surya Kant, Mona Asnani
Congenital malformations of the lung are extremely rare with an incidence of pulmonary hypoplasia around 1-2/12,000 births. Boyden has categorized three degrees of malformation including (i) agenesis in which there is complete absence of the lung and bronchus and no vascular supply to the affected side, (ii) aplasia in which there is the presence of rudimentary bronchus with the absence of pulmonary parenchyma, and (iii) hypoplasia in which there are variable amounts of bronchial tree, pulmonary parenchyma, and supporting vasculature...
April 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29736973/aberrant-right-subclavian-artery-causing-megaoesophagus-in-three-cats
#10
F Cinti, D Della Santa, S Borgonovo, R Bussadori, D Troiano, G Pisani
Three entire, domestic, shorthair male cats (age range: 3 months to 5 years) were referred because of regurgitation. Megaoesophagus attributable to aberrant right subclavian artery, originating from the aorta at the level of the fourth intercostal space, was diagnosed in all cats using thoracic radiography and CT angiography. One cat had concurrent patent ductus arteriosus with a normal aortic arch. Three-dimensional volume-rendered CT images were used to assess the malformations and to plan surgery for the treatment of the vascular anomalies...
May 7, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29731328/intracranial-hemorrhage-in-neonates-a-review-of-etiologies-patterns-and-predicted-clinical-outcomes
#11
REVIEW
Ai Peng Tan, Patricia Svrckova, Frances Cowan, Wui Khean Chong, Kshitij Mankad
Intracranial hemorrhage (ICH) in neonates often results in devastating neurodevelopmental outcomes as the neonatal period is a critical window for brain development. The neurodevelopmental outcomes in neonates with ICH are determined by the maturity of the brain, the location and extent of the hemorrhage, the specific underlying etiology and the presence of other concomitant disorders. Neonatal ICH may result from various inherited and acquired disorders. We classify the etiologies of neonatal ICH into eight main categories: (1) Hemorrhagic stroke including large focal hematoma, (2) Prematurity-related hemorrhage, (3) Bleeding diathesis, (4) Genetic causes, (5) Infection, (6) Trauma-related hemorrhage, (7) Tumor-related hemorrhage and (8) Vascular malformations...
April 24, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29731281/three-dimensional-angioarchitecture-and-microsurgical-treatment-of-arteriovenous-fistulas-at-the-craniocervical-junction
#12
So Fujimoto, Keisuke Takai, Hirofumi Nakatomi, Taichi Kin, Nobuhito Saito
Digital subtraction angiography (DSA) is the gold standard for diagnosing vascular malformations; however, difficulties are associated with visualizing the angioarchitecture of arteriovenous fistulas at the craniocervical junction (CCJ AVFs) using DSA because of their complex regional neurovascular anatomy. The present study evaluated the application of 3-dimensional computer graphics (3D CG) to the surgical planning of CCJ AVFs. Six patients with CCJ AVFs who underwent microsurgery and/or endovascular treatment were included...
May 3, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29730740/congenital-portosystemic-shunts-diagnosis-and-treatment
#13
Stéphanie Franchi-Abella, Emmanuel Gonzales, Oanez Ackermann, Sophie Branchereau, Danièle Pariente, Florent Guérin
Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts...
May 5, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29730692/ultrasonographic-and-imaging-appearance-of-peripheral-intraneural-vascular-anomalies-report-of-two-cases-and-review-of-the-literature
#14
REVIEW
Georgeta Mihaela Rusu, Constantin Ciuce, Lucian Fodor, Simona Manole, Sorin Marian Dudea
The purpose of the paper is to present the ultrasonographic and imaging appearance of two cases of peripheral nerve intraneural vascular anomalies and provide a comprehensive review of the publications on this subject.The clinical presentation, ultrasonographic appearance, corresponding imaging and outcome of a case of ulnar nerve venous malformation and a case of median nerve arteriovenous malformation are presented.Literature search revealed 35 papers presenting 52 cases of vascular anomalies involving the peripheral nerves...
May 2, 2018: Medical Ultrasonography
https://www.readbyqxmd.com/read/29728721/characterization-of-the-placenta-in-the-newborn-with-congenital-heart-disease-distinctions-based-on-type-of-cardiac-malformation
#15
Jack Rychik, Donna Goff, Eileen McKay, Antonio Mott, Zhiyun Tian, Daniel J Licht, J William Gaynor
The placenta is a complex organ that influences prenatal growth and development, and through fetal programming impacts postnatal health and well-being lifelong. Little information exists on placental pathology in the presence of congenital heart disease (CHD). Our objective is to characterize the placenta in CHD and investigate for distinctions based on type of malformation present. Placental pathology from singleton neonates prenatally diagnosed and delivered at > 37 weeks gestation was analyzed. Placental findings of absolute weight, placental weight-to-newborn birth weight ratio, chorangiosis, villus maturity, thrombosis, and infarction were recorded and analyzed based on four physiological categories of CHD: (1) single ventricle-aortic obstruction, (2) single ventricle-pulmonic obstruction, (3) two-ventricle anomalies, and (4) transposition of the great arteries (TGA)...
May 4, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29720384/plasma-biomarkers-of-inflammation-and-angiogenesis-predict-cerebral-cavernous-malformation-symptomatic-hemorrhage-or-lesional-growth
#16
Romuald Girard, Hussein A Zeineddine, Janne Koskimaki, Maged D Fam, Ying Cao, Changbin Shi, Thomas J Moore, Rhonda Lightle, Agnieszka Stadnik, Kiranj K Chaudager, Sean P Polster, Robert Shenkar, Ryan C Duggan, David Leclerc, Kevin J Whitehead, Dean Li, Issam A Awad
<u>Rationale:</u> The clinical course of cerebral cavernous malformations (CCMs) is highly unpredictable, with few cross-sectional studies correlating pro-inflammatory genotypes and plasma biomarkers with prior disease severity. <u>Objective:</u> We hypothesize that a panel of 24 candidate plasma biomarkers, with a reported role in the physiopathology of CCMs, may predict subsequent clinically relevant disease activity. <u>Methods and Results:</u> Plasma biomarkers were assessed in non-fasting peripheral venous blood collected from consecutive CCM subjects followed for one year after initial sample collection...
May 2, 2018: Circulation Research
https://www.readbyqxmd.com/read/29707409/juvenile-idiopathic-arthritis-associated-with-combined-jp-hht-syndrome-a-novel-phenotype-associated-with-a-novel-variant-in-smad4
#17
Juliet Chhay Bishop, Jacquelyn Francis Britton, Anne M Murphy, Sangeeta Sule, Sally Mitchell, Clifford Takemoto, Joseph M Collaco, Wikrom Karnsakul, Carmelo Cuffari, Edith Dietz, Joann Bodurtha
Juvenile polyposis (JP) syndrome is characterized by multiple hamartomatous polyps of the gastrointestinal tract. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectasia in the skin, mucous membranes, and arteriovenous malformations in other organs. Individuals with JP-HHT syndrome have variable features of both rare disorders, attributed to heterozygous mutations in the SMAD4 gene. Systemic juvenile idiopathic arthritis (JIA) is a severe, chronic disease marked by arthritis and systemic inflammation for which the cause remains unknown...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29705020/imaging-of-hemifacial-spasm
#18
M Hermier
Almost all primary hemifacial spasms are associated with one or more neurovascular conflicts, most often at the root exit zone in the immediate vicinity of the brainstem. Imaging has first to exclude a secondary hemifacial spasm and secondly to search for and characterize the responsible neurovascular conflict(s). Magnetic resonance imaging should include high-resolution anatomical hyper T2-weighted sequences and magnetic resonance angiography by using 1.5 or even better 3 Tesla magnets. The most frequent vascular compressions are from the anterior-inferior cerebellar artery, the posterior-inferior cerebellar artery and the vertebrobasilar artery; venous conflicts are very rare...
April 25, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29702268/vascular-entrapment-of-both-the-sciatic-and-pudendal-nerve-causing-persistent-sciatica-and-pudendal-neuralgia
#19
Ahmet Kale, Gulfem Basol, Taner Usta, Isa Cam
STUDY OBJECTIVE: To demonstrate the laparoscopic approach to malformed branches of the vessels entrapping the nerves of the sacral plexus. DESIGN: A step-by-step explanation of the surgery using video (instructive video). The Ethics Committee ruled that approval was not required for this video. SETTING: Derince Education and Research Hospital, Turkey PATIENT: : The 26-year-old patient who had failed the medical therapy, complained about numbness and burning pain on the right side of the vagina and pain radiating to the lower limb for approximately 36 months period...
April 24, 2018: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/29697621/vascular-anomalies-from-a-clinicohistologic-to-a-genetic-framework
#20
Arin K Greene, Jeremy A Goss
BACKGROUND: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic mutations in most types of vascular anomalies. The purpose of this study was to collate information regarding the genetic basis of vascular anomalies. METHODS: The PubMed literature was reviewed for all citations that identified a mutation in a vascular anomaly between 1994 and 2017...
May 2018: Plastic and Reconstructive Surgery
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