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https://www.readbyqxmd.com/read/29222350/leflunomide-use-during-pregnancy-and-the-risk-of-adverse-pregnancy-outcomes
#1
Anick Bérard, Jin-Ping Zhao, Irene Shui, Susan Colilla
OBJECTIVES: Leflunomide is known to be embryotoxic and teratogenic in rodents. However, there is less evidence in humans. We quantified the risk of major congenital malformation (MCM), prematurity, low birth weight (LBW) and spontaneous abortion associated with leflunomide exposure during pregnancy in humans. METHODS: From a cohort of 289 688 pregnancies in Montreal, Quebec, Canada, from 1998 to 2015, first-trimester leflunomide exposure and other antirheumatic drug exposures were studied for their association with MCM and spontaneous abortions...
December 8, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29221972/angiopoietin-like-proteins-4-angptl4-gene-polymorphisms-and-risk-of-brain-arteriovenous-malformation
#2
Sarafroz A Erkinova, Ekaterina A Sokolova, Kirill Y Orlov, Vitaly S Kiselev, Nikolay V Strelnikov, Andrey V Dubovoy, Elena N Voronina, Maxim L Filipenko
BACKGROUND: Brain arteriovenous malformations (BAVMs) are formed by hypertrophied arterial vessels (afferents, feeders), a large number of arteriovenous shunts which become tangled to form a body (nidus) of malformation, which then expands draining proximal veins. The aim of this study was a replication of single nucleotide polymorphism (SNP) rs11672433 association with BAVM development with the subsequent meta-analysis of published data. METHODS: A total of 252 Russian patients with brain BAVMs and 480 control subjects were included in the present study...
December 5, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29221954/total-particulate-matter-from-cigarette-smoke-disrupts-vascular-development-in-zebrafish-brain-danio-rerio
#3
Andrey Massarsky, G L Prasad, Richard T Di Giulio
Several studies have demonstrated zebrafish as a useful high-throughput in-vivo model to study the effects of cigarette smoke on early development. It has been shown previously that exposure of zebrafish to cigarette smoke total particulate matter (TPM) leads to several adverse physiological aberrations, including heart deformities and improper angiogenesis. Consequently, this study investigated the effects of TPM on cardiovascular development in zebrafish that were exposed to increasing concentrations of TPM based upon nicotine content from 6h post fertilization (hpf) up to 72hpf...
December 5, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/29221944/living-uterus-donation-and-transplantation-experience-of-interest-and-screening-in-a-single-center-in-the-united-states
#4
Liza Johannesson, Kristin Wallis, E Colin Koon, Gregory J Mckenna, Tiffany Anthony, Sara G Leffingwell, Goran B Klintmalm, Robert T Gunby, Giuliano Testa
BACKGROUND: Little is known about attitudes toward uterus donation and transplantation in society and the interest of the women the treatment is aimed to assist. OBJECTIVE: This study examined the interest of recipients and living donors in our uterus transplantation program; it describes the screening protocol we developed and the results of the screening and reports demographic data and characteristics of screened candidates. STUDY DESIGN: Initial screening and evaluation included physical examinations by a gynecologist and a transplant surgeon; psychological evaluation; imaging (x-ray, computed tomography, ultrasound); blood tests; immunological testing; viral, bacterial, and fungal testing; drug screen; hormonal testing; Pap smear; urinalysis; and electrocardiogram...
December 5, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29221921/ethanol-embolotherapy-for-the-management-of-refractory-chronic-skin-ulcers-caused-by%C3%A2-arteriovenous-malformations
#5
YunBo Jin, Xi Yang, Chen Hua, XiaoXi Lin, Hui Chen, Gang Ma, TianYou Wang, WenXin Yu
PURPOSE: To describe the clinical features and treatment outcomes of ethanol embolotherapy in refractory chronic skin ulcers caused by arteriovenous malformations (AVMs). MATERIALS AND METHODS: From October 2011 to October 2015, 12 patients (5 male; mean age, 26.2 y) with refractory chronic skin ulcers caused by AVMs were treated at a single institution. Ethanol embolotherapy was performed by direct puncture techniques. Needles were directly inserted toward the nidus of the lesion based on imaging analysis...
December 5, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/29221638/d-dimer-level-correlation-with-treatment-response-in-children-with-venous-malformations
#6
Yvonne Chi-Lun Leung, Michael Wai-Yip Leung, Shi-Da Yam, Judy Wing-Suet Hung, Clarence Sze-Wai Liu, Lap-Yan Chung, Man-Yee Tang, Hon-Shing Fung, Wai-Lun Poon, Nicholas Sih-Yin Chao, Kelvin Kam-Wing Liu
AIM: Localized intravascular coagulopathy is present in children with venous malformations (VMs) as evidenced by elevated D-dimer levels. Few studies have looked into the changes in D-dimer after sclerotherapy and its correlation with treatment outcome and complications. Our study aims to investigate changes in D-dimer in children with VMs undergoing alcohol sclerotherapy. METHODS: A prospective cohort study from 2014 to 2016, which included children (<18years) with VM undergoing alcohol sclerotherapy, was completed...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29221514/yield-of-brain-mri-in-clinically-diagnosed-epilepsy-in-the-kingdom-of-bhutan-a-prospective-study
#7
Veronica Bruno, Joshua P Klein, Dechen Nidup, Damber K Nirola, Lhab Tshering, Sonam Deki, Sarah J Clark, Kristin A Linn, Russell T Shinohara, Chencho Dorji, Dili Ram Pokhrel, Ugyen Dema, Farrah J Mateen
BACKGROUND: People with epilepsy (PWE) in low- and middle-income countries may not access the health resources that are considered optimal for epilepsy diagnosis. The diagnostic yield of magnetic resonance imaging (MRI) has not been well studied in these settings. OBJECTIVES: To report the diagnostic yield of brain MRI and identify clinical associations of abnormal MRI findings among PWE in a neurocysticercosis-endemic, resource-limited setting and to identify the proportion and putative structural brain causes of drug-resistant epilepsy...
May 2017: Annals of Global Health
https://www.readbyqxmd.com/read/29221468/fever-in-pregnancy-and-the-risk-of-congenital-malformations-a-cohort-study
#8
L Sass, S K Urhoj, J Kjærgaard, J W Dreier, K Strandberg-Larsen, A-M Nybo Andersen
BACKGROUND: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester was associated with an increased risk of congenital malformations in the offspring...
December 8, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29220675/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#9
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
No abstract text is available yet for this article.
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29220674/actb-loss-of-function-mutations-result-in-a-pleiotropic-developmental-disorder
#10
Sara Cuvertino, Helen M Stuart, Kate E Chandler, Neil A Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev Bhaskar, Bert Callewaert, Jill Clayton-Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, Maria C Digilio, Abhijit Dixit, Matthew Edwards, Jan M Friedman, Antonio Gonzalez-Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y T Ma, Ruth McGowan, Maryse Des Medt, James O'Sullivan, Sylvie Odent, Michael J Parker, Céline Pebrel-Richard, Florence Petit, Zornitza Stark, Sylvia Stockler-Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M White, Farah R Zahir, Adrian S Woolf, Siddharth Banka
ACTB encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29219827/venous-thrombosis-and-coagulation-parameters-in-patients-with-pure-venous-malformations
#11
J van Es, N A Kappelhof, R A Douma, J C M Meijers, V E A Gerdes, C M A M van der Horst
INTRODUCTION: Venous malformations (VMs) are ubiquitous, low-flow vascular anomalies known to be occasionally painful due to thrombotic episodes within the lesion. The prevalence of superficial or deep vein thrombosis is unclear. METHODS: A cross-sectional study among outpatients aged ≥ 12 years with pure VMs was performed, quantifying the prevalence of thrombosis by screening all patients with compression ultrasonography (CUS). Additionally, we evaluated whether coagulation alterations were related to thrombosis observed with CUS...
October 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/29217941/intestinal-obstruction-in-early-neonatal-period-a-3-year-review-of-admitted-cases-from-a-tertiary-hospital-in-ethiopia
#12
Mustefa Mohammed, Tadesse Amezene, Moges Tamirat
Background: Failure to pass meconium by a full-term neonate within the first 24 hours should raise a suspicion of bowel obstruction. The objective of this study was to determine pattern of presentation, diagnosis and outcome of management of intestinal obstruction in the early neonatal period in the Neonatal Care Unit of Tikur Anbessa Specialized Hospital in Addis Ababa, Ethiopia. Methods: Retrospective chart review of admitted cases from January 2011 to December 2013 was done...
July 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29217806/synovial-arteriovenous-malformation-masquerading-as-arthritis
#13
Pooja Prakash Mallya, Anand Prahalad Rao
BACKGROUND: Synovial arteriovenous malformation is rare. CASE CHARACTERISTICS: We present three children with recurrent monoarthritis secondary to synovial arteriovenous malformation. OUTCOME: Two children underwent excision of arteriovenous malformation. Another child had diffuse arteriovenous malformation, which was inoperable. MESSAGE: Synovial arteriovenous malformations should be considered in the differential diagnosis of monoarthritis, especially of the knee...
November 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29217071/psychosocial-impact-of-vascular-anomalies-on-children-and-their-families
#14
REVIEW
Alexandra G Espinel, Nancy M Bauman
Vascular anomalies are divided into tumors and malformations based on their clinical and cytologic attributes. Vascular malformations are further subcategorized as low-flow lymphatic, venous, capillary, or mixed lesions and as high-flow arteriovenous malformations. Treatment is reserved for vascular anomalies that are symptomatic or cosmetically disfiguring, and surgical and nonsurgical treatment options are widely varied with variable outcomes.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217070/congenital-vascular-tumors
#15
REVIEW
Jeremy A Goss, Arin K Greene
Vascular tumors are benign neoplasms, which result from proliferating endothelial cells. These lesions present during infancy or childhood, may affect any location, and exhibit postnatal growth. Local complications include bleeding, tissue destruction, and pain whereas systemic sequelae include thrombocytopenia, congestive heart failure, and death. Vascular tumors should be differentiated from vascular malformations, which present at birth, have a quiescent endothelium, and grow in proportion to the child. Together, vascular tumors and malformations comprise the field of vascular anomalies...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217068/imaging-of-vascular-lesions-of-the-head-and-neck
#16
REVIEW
Jared M Steinklein, Deborah R Shatzkes
This article provides an overview of imaging findings of common and uncommon vascular lesions in the head and neck and showcases images highlighting imaging findings. Both hemangiomas and vascular malformations are covered.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217067/etiology-and-genetics-of-congenital-vascular-lesions
#17
REVIEW
Angela Queisser, Laurence M Boon, Miikka Vikkula
The detection of somatic, activating genetic mutations to underlie development of vascular tumors and malformations led to a better understanding of their pathophysiology. Proteins encoded by the detected mutated genes activate the two major signaling pathways, also involved in cancer: the RAS/MAPK/ERK pathway and/or the PI3K/AKT/mTOR pathway. This gives a strong basis for studies to repurpose cancer therapeutics to patients with vascular tumors and malformations.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217065/orthognathic-considerations-of-vascular-malformations
#18
REVIEW
Luis Delgado, Avanti Verma, Teresa M O, Stuart Super
Vascular malformations affect the craniofacial skeleton in many ways, depending on the type of the lesion and its location. The lesions may exert a mass effect and cause thinning or thickening of the bone or cause expansion from direct bony infiltration. Orthognathic surgery can be used to correct any malocclusion or open bite deformities after the soft tissues are addressed.
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217064/the-management-of-vascular-malformations-of-the-airway-natural-history-investigations-medical-surgical-and-radiological-management
#19
REVIEW
Tristan Klosterman, Teresa M O
Vascular malformations may affect nearly all aspects of the upper airway. Each type of malformation has a characteristic pattern of disease. These lesions may be focal or diffuse, and require directed management strategies. Physicians treating these entities should have a high level of suspicion to consider airway evaluation even in the absence of overt symptoms. However, cutaneous head and neck venous malformations or other lesions affecting the lips, oral cavity, or tongue can herald the presence of coexisting airway lesions...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29217063/capillary-malformations-portwine-stains-of-the-head-and-neck-natural-history-investigations-laser-and-surgical-management
#20
REVIEW
Jeong Woo Lee, Ho Yun Chung
Capillary malformations (CMs), also known as port-wine stains, are the most common type of congenital vascular malformations. Facial CM often occurs with a quasidermatomal distribution according to the sensory trigeminal nerve distribution. With time, these lesions darken progressively, and soft tissue hypertrophy, bony hypertrophy, and/or nodule formation can develop. Multiple treatments for CM have been reported. However, the mainstay and gold standard therapy for facial or aesthetically sensitive CM is still the pulsed dye laser treatment...
February 2018: Otolaryngologic Clinics of North America
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