Search our Database of Scientific Publications and Authors

I’m looking for a

    2608 results match your criteria Capillary Malformation

    1 OF 53

    Endoscopic resection of asymptomatic, colonic, polypoid arteriovenous malformations: Two case reports and a literature review.
    Saudi J Gastroenterol 2017 Jan-Feb;23(1):67-70
    Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    A colonic arteriovenous malformation (AVM) is a significant vascular lesion of the gastrointestinal tract and a common cause of lower gastrointestinal bleeding. AVMs are usually identified endoscopically as bright red, flat lesions. AVMs with a polypoid appearance are extremely rare in the large intestine. Read More

    A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
    Angiogenesis 2017 Jan 24. Epub 2017 Jan 24.
    Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Background: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity. Read More

    Spinal Dural Arteriovenous Fistula: Is There A Role For Intra-operative Contrast Enhanced Ultrasound?
    World Neurosurg 2017 Jan 19. Epub 2017 Jan 19.
    Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico C. Besta, Milan; Department of Neurological Surgery, Johns Hopkins Medical School, Baltimore, Maryland.
    Background: Intra-operative imaging during surgical ligation of a spinal dural arteriovenous fistula (SDAVF) is usually based on fluorescence angiography, intra-operative ultrasound with Doppler modality and intra-operative digital subtraction angiography. The aim of our work was to explore the potential role of contrast enhanced ultrasound (CEUS) during surgical management of SDAVF. SDAVF main features in CEUS prior to treatment are described together with their modifications after surgical ligation Case Description CEUS was performed using harmonic imaging with a second generation ultrasound contrast agent (SonoVue) in a case of right D6 spinal dorsal arterio-venous fistula. Read More

    Factors Influencing Neurodevelopment after Cardiac Surgery during Infancy.
    Front Pediatr 2016 15;4:137. Epub 2016 Dec 15.
    Pediatric Cardiology, University Hospital RWTH Aachen , Aachen , Germany.
    Short- and long-term neurodevelopmental (ND) disabilities with negative impact on psychosocial and academic performance, quality of life, and independence in adulthood are known to be the most common sequelae for surviving children after surgery for congenital heart disease (CHD). This article reviews influences and risk factors for ND impairment. For a long time, the search for independent risk factors was focused on the perioperative period and modalities of cardiopulmonary bypass (CPB). Read More

    Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.
    Korean J Pediatr 2016 Nov 30;59(Suppl 1):S152-S156. Epub 2016 Nov 30.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.
    Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics. Read More

    Great saphenous vein dilatation with reflux at the saphenofemoral junction: A rare underlying association of eccrine angiomatous hamartoma.
    Indian Dermatol Online J 2016 Nov-Dec;7(6):533-535
    Department of Dermatology, Venereology and Leprosy, Jawaharlal Nehru Medical College (DMIMSU-DU), Sawangi, Wardha, Maharashtra, India.
    Eccrine angiomatous hamartoma (EAH) is an exceedingly rare benign tumor-like lesion prevalent in childhood, which can produce pain and marked sweating. Histological features include proliferation of eccrine sweat glands and angiomatous capillary channels. It may be rarely associated with underlying pathological conditions. Read More

    Immunolocalization of substance P and NK-1 receptor in vascular anomalies.
    Arch Dermatol Res 2017 Mar 17;309(2):97-102. Epub 2016 Dec 17.
    Research Laboratory on Neuropeptides, Biomedicine Institute, Virgen del Rocio, University Hospital, Avda. Manuel Siurot s/n, 41013, Seville, Spain.
    The peptide substance P (SP) shows a widespread distribution in both the central and peripheral nervous systems, but it is also ubiquitous in the human body. After binding to the neurokinin-1 (NK-1) receptor, SP regulates tumoral angiogenesis and proliferation. Thus, knowledge of this system is the key for a better understanding and, hence, a better management of many human diseases, including vascular anomalies (VA). Read More

    Zika virus infection of Hofbauer cells.
    Am J Reprod Immunol 2017 Feb 14;77(2). Epub 2016 Dec 14.
    Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, CT, USA.
    Recent studies have linked antenatal infection with Zika virus (ZIKV) with major adverse fetal and neonatal outcomes, including microcephaly. There is a growing consensus for the existence of a congenital Zika syndrome (CZS). Previous studies have indicated that non-placental macrophages play a key role in the replication of dengue virus (DENV), a closely related flavivirus. Read More

    Klippel Trenaunay Syndrome: A Case Report.
    Mymensingh Med J 2016 Oct;25(4):776-779
    Dr Md Nazrul Islam, Assistant Professor, Department of Neonatology, Mymensingh Medical College, Mymensingh, Bangladesh; E-mail;
    Klippel Trenaunay syndrome refers to a rare congenital anomaly which is characterized by capillary malformation, venous malformation and sometimes lymphatic malformation associated with overgrowth of a limb, with soft tissue hypertrophy and/or bony hypertrophy. The anomaly, if present, is present at birth and usually involves the lower limbs as well as portion of trunk, face, uppper limb or head. Our reporting case is a preterm male neonate having port wine stain, varicose veins and excessive growth of soft tissue of left lower limb clinically consistent with Klippel Trenaunay Syndrome. Read More

    Modeling RASopathies with Genetically Modified Mouse Models.
    Methods Mol Biol 2017 ;1487:379-408
    Molecular Oncology Program, Centro Nacional de Investigaciones Oncológicas (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
    The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1. Read More

    Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.
    Pediatr Neurol 2017 Feb 21;67:59-63. Epub 2016 Oct 21.
    Vascular Biology Program, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Department of Surgery, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:
    Background: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p. Read More

    Changes in pulsatility and resistance indices of cerebral arteriovenous malformation feeder arteries after embolization and surgery.
    Neurol Res 2017 Jan 21;39(1):7-12. Epub 2016 Nov 21.
    a Department of Neurosurgery , University of Illinois at Chicago , Chicago , IL , USA.
    Objectives: Embolization reduces flow in cerebral arteriovenous malformations (AVMs) before surgical resection, but changes in pulsatility and resistance indices (PI, RI) are unknown. Here, we measure PI, RI in AVM arterial feeders before and after embolization/surgery.

    Methods: Records of patients who underwent AVM embolization and surgical resection at our institution between 2007 and 2014 and had PI, RI, and flows obtained using quantitative magnetic resonance angiography were retrospectively reviewed. Read More

    The pathobiology of vascular malformations: insights from human and model organism genetics.
    J Pathol 2017 Jan 4;241(2):281-293. Epub 2016 Dec 4.
    Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC 27710, USA.
    Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. Read More

    Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.
    Eur J Med Genet 2017 Feb 9;60(2):93-99. Epub 2016 Nov 9.
    Dipartimento di Fisica e Chimica, Università degli Studi di Palermo, Palermo, Italy.
    Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Read More

    A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.
    Oncotarget 2017 Jan;8(2):2708-2718
    Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, 430071, China.
    Two daughters in a Chinese consanguineous family were diagnosed as diffuse pulmonary arteriovenous malformations (PAVMs) and screened using whole exome sequencing (WES) and copy number variations (CNVs) chips. Though no mutation was found in the established causative genes of capillary malformation-AVMs (CM-AVMs) or PAVMs, Ser161Ile (hg19 NM_022493 c.482G>T) mutation in nuclear prelamin A recognition factor-like (NARFL) was identified. Read More

    Review of familial cerebral cavernous malformations and report of seven additional families.
    Am J Med Genet A 2017 Feb 28;173(2):338-351. Epub 2016 Oct 28.
    Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
    Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Read More

    MicroRNA-Based Therapy of GATA2-Deficient Vascular Disease.
    Circulation 2016 Dec 25;134(24):1973-1990. Epub 2016 Oct 25.
    From Institute of Molecular and Translational Therapeutic Strategies (IMTTS), IFB-Tx, Hannover Medical School, Germany (D.H., J.F., K.S., A.J., A.P., K.Z., J.R., A.F., K.S., S.B., T.T.); Department of Cardiology and Angiology, Hannover Medical School, Germany (K.S., D.H.-K., N.F., J.H., J.B.); Cellular Neurophysiology, Center of Physiology, Hannover Medical School, Germany (M.B.); Department of Vascular and Endovascular Surgery, Technical University Munich, Germany (L.M.); Cluster of Excellence REBIRTH, Hannover Medical School, Germany (D.H.-K., N.F., J.H., J.B., T.T.); JRG Translational Hematology of Congenital Disease, Cluster of Excellence REBIRTH, Institute of Experimental Hematology, Hannover Medical School, Germany (N.L.); Institute for Cardiovascular Prevention, Ludwig-Maximilians-University Munich, Germany (A.S.); DZHK (German Centre for Cardiovascular Research), Partner Site Munich Heart Alliance, Germany (A.S.); and National Heart and Lung Institute, Imperial College London, UK (T.T.).
    Background: The transcription factor GATA2 orchestrates the expression of many endothelial-specific genes, illustrating its crucial importance for endothelial cell function. The capacity of this transcription factor in orchestrating endothelial-important microRNAs (miRNAs/miR) is unknown.

    Methods: Endothelial GATA2 was functionally analyzed in human endothelial cells in vitro. Read More

    Bilateral Coronary Artery Fistula.
    J Assoc Physicians India 2016 Aug;64(8):84-85
    Prof. and Head, Deptt. of Cardiology, Christian Medical College and Hospital, Ludhiana, Punjab.
    Coronary artery anomalies include anomalies of origin, termination, structure or course. Coronary artery fistulae (CAF) are classified as abnormalities of termination and are considered a major congenital anomaly. A coronary artery fistula involves a sizable communication between a coronary artery, bypassing the myocardial capillary bed and entering either a chamber of the heart (coronary-cameral fistula) or a great vessel. Read More

    Radial forearm and forehead flap reconstruction following resection of a nasal arteriovenous malformation: A case report.
    Oncol Lett 2016 Oct 16;12(4):2868-2871. Epub 2016 Aug 16.
    Department of Otolaryngology, Chi-Mei Medical Center, Tainan 710, Taiwan, R.O.C.; Department of Biological Science and Technology, National Chiao Tung University, Hsinchu, Taiwan 300, R.O.C.
    Arteriovenous malformation (AVM) is a structural vascular abnormality in which the arterial vasculature connects with the venous vasculature without capillary connections. AVM confined to the nasal cavity is considerably rare. Blurred vision can be one of the associated symptoms. Read More

    Correction of Facial Deformity in Sturge-Weber Syndrome.
    Plast Reconstr Surg Glob Open 2016 Aug 15;4(8):e843. Epub 2016 Aug 15.
    Department of Plastic and Reconstructive Surgery, Craniofacial Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan; and Department of Anesthesia, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
    Background: Although previous studies have reported soft-tissue management in surgical treatment of Sturge-Weber syndrome (SWS), there are few reports describing facial bone surgery in this patient group. The purpose of this study is to examine the validity of our multidisciplinary algorithm for correcting facial deformities associated with SWS. To the best of our knowledge, this is the first study on orthognathic surgery for SWS patients. Read More

    Multifocal vascular lesions.
    Semin Cutan Med Surg 2016 Sep;35(3):153-60
    Departments of Dermatology and Pediatrics, Columbia University Medical Center, New York, New York, USA.
    Multifocal vascular lesions are important to recognize and appropriately diagnose. Generally first noticed on the skin, multifocal vascular lesions may have systemic involvement. Distinguishing among the different types of multifocal vascular lesions is often based on clinical features; however, radiological imaging and/or biopsy are frequently needed to identify distinct features and guide treatment. Read More

    Genetic basis for vascular anomalies.
    Semin Cutan Med Surg 2016 Sep;35(3):128-36
    Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.
    The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More

    Outcome of Management of Vascular Malformations of Lip.
    J Craniofac Surg 2016 Sep;27(6):e520-4
    *Plastic, Reconstructive Surgery and Burn Unit, King Edward Medical University, Mayo Hospital†Plastic Surgery Department, Shaikh Zayed Medical Complex‡29/7 Behind Muslim League House, Davis Road§ENT 1, King Edward Medical University, Mayo Hospital||King Edward Medical University, Mayo Hospital, Lahore, Pakistan.
    Objectives: To describe the characteristics and outcome of management of vascular malformations of lip.

    Place And Duration Of Study: The Department of Plastic Surgery and Burn Unit, King Edward Medical University, Mayo Hospital, Lahore, from January 2009 to December 2013.

    Methods: A prospective case series of 38 patients with vascular malformation of lip was performed. Read More

    FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.
    Mol Syndromol 2016 Jul 18;7(3):144-52. Epub 2016 Jun 18.
    Department of Human Genetics, University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
    Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Read More

    A rare atypical rapidly involuting congenital hemangioma combined with vascular malformation in the upper limb.
    World J Surg Oncol 2016 Aug 26;14(1):229. Epub 2016 Aug 26.
    Departments of Orthopedics, Sanmen People's Hospital, #171 Renmin Road, Taizhou, Zhejiang Province, 317100, People's Republic of China.
    Background: Rapidly involuting congenital hemangioma is a congenital soft tissue tumor, which is difficult to excise completely and rather prone to recur. This atypical tumor combined with capillary-lymphatic-venous malformation was not reported in the literature.

    Case Presentation: We report an atypical case of a 16-year-old teenager who was born with a mass in his right upper limb. Read More

    Combination of Sturge-Weber Syndrome and Trigonocephaly.
    J Craniofac Surg 2016 Oct;27(7):e671-e673
    *Department of Oral and Maxillofacial Surgery †Department of Neurosurgery, University of Heidelberg, Im Neuenheimer Feld 400, Heidelberg, Germany.
    Regarded singly, both Sturge-Weber syndrome and trigonocephaly are rare congenital disorders. The cardinal features of Sturge-Weber syndrome are facial cutaneous capillary malformation (port-wine stain), leptomeningeal angiomatosis, and glaucoma. Premature closure of the metopic suture results in trigonocephaly. Read More

    Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
    Am J Med Genet A 2016 Nov 17;170(11):3018-3022. Epub 2016 Aug 17.
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
    We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations. Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Read More

    Vascular Lesions.
    Pediatr Ann 2016 Aug;45(8):e299-305
    Vascular lesions in childhood are comprised of vascular tumors and vascular malformations. Vascular tumors encompass neoplasms of the vascular system, of which infantile hemangiomas (IHs) are the most common. Vascular malformations, on the other hand, consist of lesions due to anomalous development of the vascular system, including the capillary, venous, arterial, and lymphatic systems. Read More

    Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
    Phlebology 2016 Aug 9. Epub 2016 Aug 9.
    Clinic for Cardiovascular Surgery, University Hospital Zurich, Zurich, Switzerland.
    Objectives: Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation.

    Methods: We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Read More

    Angiomatous pleomorphic xanthoastrocytoma: a case report and literature review.
    Diagn Pathol 2016 Aug 9;11(1):73. Epub 2016 Aug 9.
    Department of Pathology, the First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, 110001, China.
    Background: Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far.

    Case Presentation: A 24-year-old Chinese female patient who presented with seizure and loss of consciousness for 15 min underwent computed tomography and magnetic resonance imaging, which revealed a mass in the left parietal lobe. Read More

    Oral sildenafil as a treatment option for lymphatic malformations in PIK3CA-related tissue overgrowth syndromes.
    Dermatol Ther 2016 Nov 9;29(6):466-469. Epub 2016 Aug 9.
    Department of Plastic, Reconstructive and Hand Surgery, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
    Patients with extensive lymphatic malformations associated with tissue overgrowth syndromes (such as Klippel-Trenaunay syndrome and CLOVES) often pose a therapeutic challenge for physicians. In recent years, it has been suggested that oral sildenafil therapy might be used to treat congenital lymphatic malformations. However, this possible new therapy has not yet been used in patients with lymphatic malformations associated with tissue overgrowth syndromes. Read More

    Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.
    J Ultrasound Med 2016 Sep 4;35(9):2057-65. Epub 2016 Aug 4.
    School of Health and Rehabilitation Sciences, The Ohio State University, College of Medicine, Columbus, Ohio USA.
    Klippel-Trénaunay syndrome (KTS) is a rare congenital malformation characterized by a triad of clinical presentations: (1) capillary malformations manifesting as a "port wine stain"; (2) limb hypertrophy; and (3) venous varicosities. It is distinguished from Parkes-Weber syndrome by the absence of substantial arteriovenous shunting. Due to the clinical implications of an arteriovenous fistula, differentiation between the two syndromes is important, as the prognosis and treatment greatly differ. Read More

    A Typical Vascular and Pigmentary Dermoscopic Pattern of Capillary Malformations in Capillary Malformation-Arteriovenous Malformation Syndrome: Report of Four Cases.
    Pediatr Dermatol 2016 Sep 2;33(5):e337-41. Epub 2016 Aug 2.
    Dermatology Department, Dijon University Hospital, Dijon, France.
    We report dermoscopic characteristics of cutaneous capillary malformations in four patients with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. We observed a mixed vascular and pigmentary pattern with branched linear vessels and an underlying homogeneous brown background. Disappearance of the vascular pattern on pressure revealed an underlying faint pigmentary reticular pattern. Read More

    Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling.
    Am J Hum Genet 2016 Aug 28;99(2):299-317. Epub 2016 Jul 28.
    Department of Medical Genetics, Gene Mapping Laboratory, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey; Center for Biobanking and Genomics, Hacettepe University, Ankara 06100, Turkey. Electronic address:
    Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized lesions of arteriovenous, capillary, or lymphatic origin. Vascular malformations that occur inside bone tissue are rare. Read More

    Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
    Korean J Pediatr 2016 Jun 30;59(6):280-4. Epub 2016 Jun 30.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
    Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Read More

    Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.
    Pediatr Dermatol 2016 Nov 25;33(6):570-584. Epub 2016 Jul 25.
    Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
    Vascular stains are a common reason for consultation in pediatric dermatology clinics. Although vascular stains include all vascular malformations, the term is most often used to refer to capillary malformations, but capillary malformations include a wide range of vascular stains with different clinical features, prognoses, and associated findings. The discovery of several mutations in various capillary malformations and associated syndromes has reinforced these differences, but clinical recognition of these different types of capillary vascular stains is sometimes difficult, and the multitude of classifications and confusing nomenclature often hamper the correct diagnosis and management. Read More

    [Establishment of a screening method for AZF microdeletions by capillary technology and a clinical trial].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Aug;33(4):550-4
    Medical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Reproductive Center, Guangdong Women and Children' Hospital, Guangzhou, Guangdong 511442, China. Email:
    Objective: To establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.

    Methods: For each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia. Read More

    Retina 2017 Jan;37(1):97-111
    Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany.
    Purpose: To report the outcome of intravitreal 0.312 mg bevacizumab (IVB) monotherapy in acute retinopathy of prematurity (ROP) and to describe the vascular development over time.

    Methods: Seventeen prematurely born infants were treated with IVB (0. Read More

    Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain.
    Clin Epigenetics 2016 22;8:78. Epub 2016 Jul 22.
    Cardiovascular Disease Biology Program, Rajiv Gandhi Centre for Biotechnology, Poojapura, Thycaud, Thiruvananthapuram, Kerala India.
    Vascular malformations are developmental congenital abnormalities of the vascular system which may involve any segment of the vascular tree such as capillaries, veins, arteries, or lymphatics. Arteriovenous malformations (AVMs) are congenital vascular lesions, initially described as "erectile tumors," characterized by atypical aggregation of dilated arteries and veins. They may occur in any part of the body, including the brain, heart, liver, and skin. Read More

    Endovascular treatment of arteriovenous malformations.
    Handb Clin Neurol 2016 ;136:1311-7
    Department of Neurosurgery, Methodist Hospital, Houston, TX, USA.
    Cerebral arteriovenous malformations (AVM) are tangles of blood vessels that permit shunting of blood from the arterial to venous phase without intervening capillaries. The malformation's arterialization of a low-pressure system creates a risk of rupture that is substantially higher when associated with an aneurysm. The annual hemorrhage rate is 2. Read More

    Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
    Gene 2016 Oct 9;591(1):214-26. Epub 2016 Jul 9.
    Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 715, Makkah 21955, Saudi Arabia; Science and Technology Unit, Umm Al -Qura University, P.O. Box 715, Makkah 21955, Saudi Arabia. Electronic address:
    Autosomal recessive polycystic kidney disease (ARPKD) a rare genetic disorder, described by formation of cysts in the kidney. A targeted customized sequencing of genes implicated in ARPKD phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified likely pathogenic disease causing variants during the validation process. Read More

    Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.
    Brain Dev 2016 Nov 2;38(10):950-953. Epub 2016 Jul 2.
    Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan; Niigata University Medical and Dental Hospital, Japan.
    Megalencephalic polymicrogyria syndromes include megalencephaly-capillary malformation and megalencephaly-polymicrogyria-polydactyly-hydrocephalus. Recent genetic studies have identified that genes in the PI3K-AKT pathway are involved in the pathogenesis of these disorders. Herein, we report a patient who presented with developmental delay, epilepsy and peculiar neuroimaging findings of megalencephaly, polymicrogyria, and symmetrical band heterotopia in the periventricular region. Read More

    Arterial spin-labeled perfusion for vascular anomalies in the pediatric head and neck.
    Clin Imaging 2016 Sep-Oct;40(5):1040-6. Epub 2016 Jun 22.
    Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Ave, L352, San Francisco, CA 94143.
    Objective: To study the arterial spin-labeled (ASL) imaging features of vascular anomalies in the head and neck.

    Materials And Methods: The presence or absence of ASL signal was evaluated for each vascular anomaly, and a comparison with conventional magnetic resonance (MR) sequences was performed.

    Results: Twenty-five children were identified with vascular anomalies. Read More

    Integrin β8 Deletion Enhances Vascular Dysplasia and Hemorrhage in the Brain of Adult Alk1 Heterozygous Mice.
    Transl Stroke Res 2016 Dec 29;7(6):488-496. Epub 2016 Jun 29.
    Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, 1001 Potrero Avenue, Box 1363, San Francisco, CA, 94143, USA.
    Brain arteriovenous malformation (bAVM), characterized by tangled dysplastic vessels, is an important cause of intracranial hemorrhage in young adults, and its pathogenesis and progression are not fully understood. Patients with haploinsufficiency of transforming growth factor-β (TGF-β) receptors, activin receptor-like kinase 1 (ALK1) or endoglin (ENG) have a higher incidence of bAVM than the general population. However, bAVM does not develop effectively in mice with the same haploinsufficiency. Read More

    Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.
    Pediatr Neurol 2016 May 16;58:12-24. Epub 2016 Mar 16.
    Departments of Pediatrics and Neurology, The Ohio State University College of Medicine and Nationwide Children's Hospital, Columbus, Ohio.
    Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder. Read More

    Biomechanical properties of infantile hemangiomas: clinical stage and effect of age.
    Skin Res Technol 2016 Nov 5;22(4):487-496. Epub 2016 Jun 5.
    James L. Winkle College of Pharmacy, University of Cincinnati, Cincinnati, OH, USA.
    Background: Infantile hemangiomas (IHs) are benign vascular neoplasms with rapid capillary proliferation shortly after birth and slow involution with diminishing capillary proliferative activity, fibrosis, and fatty replacement over 7-10 years.

    Methods: Hemangiomas and contralateral control sites in 88 subjects were measured using a suction device, 6-mm probe and 200 mbar negative pressure. Mechanical properties were assessed vs. Read More

    1 OF 53