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Vascular anomalies

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https://www.readbyqxmd.com/read/28711407/severe-neuroimaging-anomalies-are-usually-associated-with-random-x-inactivation-in-leucocytes-circulating-dna-in-x-linked-dominant-incontinentia-pigmenti
#1
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, Elodie Bal, Isabelle Desguerre, Manoelle Kossorotoff, Isabelle An, Asma Smahi, Christine Bodemer, Arnold Munnich, Julie Steffann, Nathalie Boddaert
Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes circulating DNA. We reviewed MRI of 18 girls with genetically proven IP. We found three patterns of MRI, normal MRI (n=5), mild white matter abnormalities with cortical and corpus callosum atrophy (n=6), and severe cortical abnormalities suggesting a vascular disease (n=7)...
July 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28705578/cloacal-duplication-single-center-experience-in-the-management-of-a-rare-anomaly
#2
Ahmed Abdelhalim, Hesham Arab, Tamer E Helmy, Mohamed E Dawaba, Mohamed E Abou-El-Ghar, Ashraf T Hafez
Cloacal duplication is an exceedingly rare group of anomalies with a limited number of cases reported so far. The anomaly may be confined to partial bladder duplication or it may involve complete duplication of the urogenital tract, hindgut, spine, lower limbs and vascular structures. Every case is unique and ought to be approached individually. By means of imaging studies and endoscopy, anatomic details should be carefully defined before endorsing surgical correction. A satisfactory outcome can be achieved in the majority of cases...
July 10, 2017: Urology
https://www.readbyqxmd.com/read/28704304/arterial-tree-anomalies-in-patients-with-clubfoot-an-investigation-carried-out-at-soba-university-hospital
#3
Samir Shaheen, Mustafa E H Bahar, Almigdad H A Mohammed, Sara F A Elbadri, Ashok Johari
Vascular deficiencies and reduced perfusion of the anterior tibial artery and the dorsalis pedis artery were suggested as causes of congenital talipes equino varus (CTEV). In this study, we assessed the prevalence of arterial abnormalities in patients with CTEV (50 patients; 74 feet) compared with a normal control group (16 patients; 32 feet) by Doppler ultrasound and Ankle Brachial Index. The flow was normal in the control group and was deficient in 39.19% of clubfoot patients. In severe clubfoot cases, the deficiency was found to an extent of 76...
July 12, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28701605/role-of-transesophageal-echocardiography-in-surgical-retrieval-of-embolized-amplatzer-device-and-closure-of-coronary-cameral-fistula
#4
Bhupesh Kumar, Alok Kumar, Ganesh Kumar, Harkant Singh
Congenital coronary artery fistula is an uncommon anomaly. Transcatheter coil embolization or Amplatzer vascular plug device closure of fistula is often done in symptomatic patients with safe accessibility to the feeding coronary artery. Embolization of Amplatzer vascular plug device is rare. We report an 11-year-old male child who presented to us with increasing shortness of breath for 7 years. He had a history of Amplatzer vascular plug device closure of right coronary-cameral fistula 8 years back. Echocardiography demonstrated a dilated aneurysmal right coronary artery with turbulent jet entering into the right ventricle (RV) and device embolized into the left pulmonary artery (LPA)...
July 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28696873/modified-aortic-uncrossing-procedure-a-novel-approach-for-norwood-palliation-of-complex-univentricular-congenital-heart-disease-with-a-circumflex-aorta
#5
Roosevelt Bryant, William Wallen, Raheel Rizwan, David L Morales
The circumflex aorta is a rare type of true vascular ring anomaly. It consists of a retroesophageal right aortic arch, a left-sided descending thoracic aorta, and a left-sided ligamentum arteriosum. The "aortic uncrossing procedure" described by Planché and Lacour-Gayet is the procedure of choice for managing this aortic anomaly in patients with a biventricular heart. The presence of a circumflex aorta in a patient with heterotaxy syndrome and univentricular congenital heart disease requiring Norwood palliation is highly unusual...
July 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28695825/tsc2-disruption-in-mesenchymal-progenitors-results-in-tumors-with-vascular-anomalies-overexpressing-lgals3
#6
Peter J Klover, Rajesh L Thangapazham, Jiro Kato, Ji-An Wang, Stasia A Anderson, Victoria Hoffmann, Wendy K Steagall, Shaowei Li, Elizabeth McCart, Neera Nathan, Joshua D Bernstock, Matthew D Wilkerson, Clifton L Dalgard, Joel Moss, Thomas N Darling
Increased mTORC1 signaling from TSC1/TSC2 inactivation is found in cancer and causes tuberous sclerosis complex (TSC). The role of mesenchymal-derived cells in TSC tumorigenesis was investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors. Tsc2cKO(Prrx1-cre) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels prominent in the forelimbs. Abnormalities were blocked by the mTORC1 inhibitor sirolimus. A Tsc2/mTORC1 expression signature identified in Tsc2-deficient fibroblasts was also increased in bladder cancers with TSC1/TSC2 mutations in the TCGA database...
July 11, 2017: ELife
https://www.readbyqxmd.com/read/28695234/pre-and-neonatal-imaging-of-gastrointestinal-complications-in-congenital-diaphragmatic-hernia
#7
REVIEW
Katharina Minkner, Leonor Alamo
The initial outcome in infants with congenital diaphragmatic hernia is mainly related to the associated lung hypoplasia. However, these patients frequently present with additional gastrointestinal pathology that also influences their quality of life and final prognosis. Congenital gastrointestinal anomalies are often observed and the displacement of the liver, the stomach and/or the intestines into the thorax may cause distortion of the vascular axis of these organs, increasing the risk of congestion and/or ischemia...
July 10, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28689944/popliteal-venous-aneurysm-and-multiple-lower-extremity-varicose-veins-presenting-with-a-left-sided-inferior-vena-cava
#8
Masaya Nakashima, Masayoshi Kobayashi
A venous aneurysm (VA) is a relatively rare disease defined by cystic vasodilated lesions in a general vein. Popliteal venous aneurysm (PVA) is a rare clinical entity, and the first signs may be a thromboembolic event. They can cause potentially life-threating diseases, such as pulmonary embolism and deep venous thrombosis. A left-sided inferior vena cava (IVC) is a common anomaly associated with venous thrombus, resulting in anatomical variations in the venous return from the lower limbs. The general vascular malformation of PVA and left-sided IVC should also be preoperatively understood because of the unpredictable risk of thromboembolic complications...
July 6, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28681397/infatile-hemangiomas-with-minimal-or-arrested-growth-associated-with-soft-tissue-hypertrophy-a-case-series-of-10-patients
#9
S Planas-Ciudad, E Roé Crespo, I Sánchez-Carpintero, I J Frieden, A Martín-Santiago, P Redondo Bellón, E Moreno Artero, E Osier, L Puig Sanz, E Baselga Torres
BACKGROUND: Infantile hemangiomas with minimal or arrested growth (IH-MAGs) are characterized by a proliferative component of less than 25% of its surface area. The co-occurrence of IH-MAGs and soft tissue anomalies is rare and case series of this association are lacking. OBJECTIVE: We present ten cases of IH-MAGs associated with soft tissue hypertrophy and describe their clinical features. METHODS: We reviewed all infantile hemangiomas with minimal or arrested growth seen between 2009 to 2016 in the dermatology clinic department at Hospital Santa Creu i Sant Pau, Barcelona...
July 5, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28677888/laparoscopic-total-gastrectomy-for-advanced-gastric-cancer-in-a-patient-with-situs-inversus-totalis
#10
Kengo Shibata, Hideki Kawamura, Nobuki Ichikawa, Kazuaki Shibuya, Tadashi Yoshida, Yosuke Ohno, Shigenori Homma, Akinobu Taketomi
Situs inversus totalis (SIT) is a rare congenital anomaly. Generally, laparoscopic surgery is difficult to perform in patients with SIT because of both the potential challenges associated with unexpected vascular anomalies and the lack of standardized strategy for handling such cases. This is the first report of laparoscopic total gastrectomy with lymph node dissection for advanced gastric cancer in a patient with SIT. A 79-year-old man with SIT was diagnosed with advanced gastric cancer. We performed laparoscopic total gastrectomy with modified D2 lymph node dissection (D2 without splenectomy) and esophagojejunal anastomosis using an overlap method involving retrocolic Roux-en-Y reconstruction...
July 5, 2017: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/28676326/discrepancy-between-the-clinical-and-histopathologic-diagnosis-of-soft-tissue-vascular-malformations
#11
Sophie E R Horbach, Amalia M Utami, Lorine B Meijer-Jorna, J H Sillevis Smitt, Phyllis I Spuls, Chantal M A M van der Horst, Allard C van der Wal
BACKGROUND: Soft tissue vascular malformations are generally diagnosed clinically, according to the International Society for the Study of Vascular Anomalies (ISSVA) classification. Diagnostic histopathologic examination is rarely performed. OBJECTIVE: We sought to evaluate the validity of the current diagnostic workup without routinely performed diagnostic histopathology. METHODS: We retrospectively determined whether there were discrepancies between clinical and histopathologic diagnoses of patients with clinically diagnosed vascular malformations undergoing therapeutic surgical resections in our center (2000-2015)...
July 1, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28675347/rare-association-between-spinal-dural-arteriovenous-fistulas-and-dysraphisms-report-of-two-cases-and-review-of-the-literature-with-a-focus-on-pitfalls-in-diagnosis-and-treatment
#12
Talenti Giacomo, Vitale Giovanni, Cester Giacomo, Alessandro Della Puppa, Faggin Roberto, Causin Francesco
Spinal vascular malformations are uncommon yet important spinal pathologies commonly classified in congenital and acquired lesions. Spinal lipomas consist of three subtypes: intramedullary lipomas, lipomyelo(meningo)celes and lipomas of the filum. Although the association of spinal arteriovenous malformations (AVM) with other congenital anomalies is well known, the coexistence of dural arteriovenous fistulas (AVF) and tethered spinal cord is exceptionally rare and only eight cases have been reported. We present two cases from our institution and speculate on the possible origin of such a rare but insidious association...
January 1, 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28666510/homocystinuria-hc-and-neurofibromatosis-type-1-nf-1-an-unusual-presentation-in-a-child
#13
Muhammad Amer Yaqub, Muhammad Saim Khan, Asad Habib
Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28658978/surgical-considerations-in-posterior-c1-2-instrumentation-in-the-presence-of-vertebral-artery-anomalies-case-illustration-and-review-of-literature
#14
Lee A Tan, Manish K Kasliwal, Carter S Gerard, Vincent C Traynelis, Ricardo B V Fontes
Vascular anomalies involving the V3 segment of the vertebral artery are common and may complicate posterior atlantoaxial instrumentation. We report a patient with a fenestrated vertebral artery that underwent successful C1-2 instrumentation and fusion. Various vertebral artery anomalies are discussed with a review of pertinent literature.
June 29, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28658775/lymphovascular-malformation-a-report-of-two-cases
#15
Mitakshara Sharma, Varuna Mallya, Nita Khurana, Praveen Kumar, Rajan Duggal
Congenital Vascular Malformations (CVM) represents a group of vascular anomalies that are the result of defective development of the vascular system. Lymphatic malformation consists of dilated lymphatic vessels caused by occlusion of the lymphatic drainage system due to congenital malformations or acquired causes such as the effects of trauma, infection, or surgery. Lymphaticovenous Malformation (LVM) is composed of lymphatic and venous channels. The most common sites are the neck and axilla. We report two cases of a four and a half-year-old and a seven-year-old child who presented with complaints of swelling in arm and groin respectively...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28658746/a-unique-triad-of-muscular-vascular-and-nervous-variations-in-upper-limb
#16
Dharmaraj Wamanrao Tamgire, Yogesh Ashok Sontakke, Sssn Rajasekhar, Karuppusamy Aravindhan
Multiple muscular and neurovascular anomalies in upper limb are reported continuously in medical literature because of their clinical significance. A unique case of the triad of variations was encountered during routine dissection activity. The variations observed were: 1) Accessory third head of biceps brachii; 2) High division of Brachial Artery; 3) Communication between Musculocutaneous Nerve and Median Nerve. Taken independently these variations are common but it is rare in a single cadaver. These abnormalities were found unilaterally on the right arm of the cadaver...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28655553/variant-discovery-in-patients-with-mendelian-vascular-anomalies-by-next-generation-sequencing-and-their-use-in%C3%A2-patient-clinical-management
#17
Raul Mattassi, Elena Manara, Pier Giuseppe Colombo, Sofia Manara, Antonella Porcella, Giulia Bruno, Alice Bruson, Matteo Bertelli
OBJECTIVE: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes...
June 24, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28654575/update-on-classification-and-diagnosis-of-vascular-malformations
#18
Catherine C McCuaig
PURPOSE OF REVIEW: This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia. RECENT FINDINGS: The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28653207/-familial-exsudative-vitreoretinopathy-fevr-in-childhood
#19
A E Laubichler, P Laubichler, D Zapp, M Klopfer, M Ulbig
A case of secondary neovascularization of the optic disc in familial exsudative vitreoretinopathy (FEVR) is reported. A 12-year-old girl presented with decreased visual acuity of the right eye to 0.05. Funduscopy showed a prominent fibrovascular neovascularization of the optic disc covering the macula. Fluorescein angiography demonstrated circular peripheral ischemia as well as vascular anomalies in both eyes. Peripheral laser coagulation of the ischemic retina of the right eye was conducted with the patient under general anesthesia...
June 26, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28635993/head-and-neck-vascular-anomalies-a-multidisciplinary-approach-and-diagnostic-criteria
#20
L Moneghini, V Sangiorgio, D Tosi, G Colletti, F Melchiorre, V Baraldini, D Graziani, R M Alfano, G Vercellio, G Bulfamante
Vascular anomalies represent a heterogeneous group of pathologies of the circulatory system that can affect any type of hematic and /or lymphatic vessel of different diameter or anatomic site. The extreme variability of tissue types and districts involved by these lesions determines a wide heterogeneity of clinical manifestations, resulting in involvement of different medical expertise. In this context, a commonly agreed terminology is crucial for the appropriate evaluation and multidisciplinary management of patients...
March 2017: Pathologica
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