Medicine (Baltimore) 2017 Aug;96(33):e7374

aDepartment of Neurology bDepartment of Radiology, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou cFrom the Department of Neurology, the Fifth Affiliated Hospital of Wenzhou Medical University, Lishui Central Hospital, Lishui, Zhejiang Province dFrom the Department of Neurology, Zhengzhou People's Hospital, Zhengzhou, Henan Province, China.

Rationale: Perimesencephalic nonaneurysmal subarachnoid hemorrhage (PNSAH) is characterized by a pattern of extravasated blood restricted to the perimesencephalic cisterns, normal angiographic findings, and an excellent prognosis with an uneventful course and low risks of complication. The precise etiology of bleeding in patients with PNSAH has not yet been established. The most common hypothesis is that PNSAH is venous in origin. Read More

Front Pediatr 2017 24;5:158. Epub 2017 Jul 24.

Vascular Anomalies Center, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA, United States.

The presence of a vascular anomaly suggests that capillaries, veins, arteries, and/or lymphatic vessels have demonstrated abnormal development and growth. Often dilated and misshaped, these vessels augment normal flow of blood and lymphatic fluids that increases the overall risk to develop intralesional thrombosis. Abnormal endothelial and lymphoendothelial cells activate hemostasis and hyperfibrinolytic pathways through poorly understood mechanisms, which contribute to the development of localized intravascular coagulopathy. Read More

Pediatr Radiol 2017 Aug 4;47(9):1196-1208. Epub 2017 Aug 4.

Department of Diagnostic Imaging, The Hospital for Sick Children, 555 University Ave., Toronto, ON, M5G 1X8, Canada.

Vascular malformations are a heterogeneous group of entities, many of which present in the pediatric age group. Sonography plays a major role in the management of children with these vascular anomalies by providing information that helps in diagnosing them, in assessing lesion extent and complications, and in monitoring response to therapy. The interpretation of sonographic findings requires correlation with clinical findings, some of which can be easily obtained at the time of scanning. Read More

R I Med J (2013) 2017 Aug 1;100(8):29-31. Epub 2017 Aug 1.

Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, MA 02114.

t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH. Read More

Pediatr Dermatol 2017 Jul 21. Epub 2017 Jul 21.

Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. We present the case of a child with RASA1-negative CM-AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB4 has been shown to upregulate the mitogen-activated protein kinase pathway and the mammalian target of rapamycin complex 1, possibly contributing to the development of vascular malformations. Read More

Arch Plast Surg 2017 Jul 15;44(4):301-307. Epub 2017 Jul 15.

Department of Plastic and Reconstructive Surgery, Pusan National University School of Medicine, Busan, Korea.

Background: Many difficulties exist in establishing a treatment plan for slow-flow vascular malformation (SFVM). In particular, little research has been conducted on the surgical treatment of SFVMs. Thus, we investigated what proportion of SFVM patients were candidates for surgical treatment in clinical practice and how useful surgical treatment was in those patients. Read More

J Pediatr 2017 Jul 12. Epub 2017 Jul 12.

Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD.

Objective: To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability.

Study Design: Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously validated SWS neuroimaging score. Read More

Circulation 2017 Jul 7. Epub 2017 Jul 7.

Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium & Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc & Université Catholique de Louvain, Brussels, Belgium

Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Read More

Dev Growth Differ 2017 Aug 4;59(6):501-514. Epub 2017 Jul 4.

First Department of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Read More

Curr Opin Pediatr 2017 Aug;29(4):448-454

CHU Sainte-Justine, University of Montreal, Montreal, Québec, Canada.

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. Read More

J Lasers Med Sci 2017 28;8(2):98-100. Epub 2017 Mar 28.

Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Introduction: Klippel-Trenaunay syndrome (KTS) is a rare congenital mesodermal abnormality characterized by varicose veins, cutaneous capillary malformation, as well as bone and soft tissue hypertrophy. Case Report: A 2-week-old female infant presented to our clinic because of vascular nevus and progressive enlargement of her right extremities and trunk since birth. The patient was treated with 595-nm pulsed-dye laser (PDL). Read More

Photomed Laser Surg 2017 May 31. Epub 2017 May 31.

1 Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao tong University , School of Medicine, Shanghai, China .

Objective: Pulsed dye laser (PDL) with 7 and 10 mm spot sizes is widely used on a regular basis for the treatment of port-wine stain (PWS).

Background Data: No studies have reported on the differences in efficacy outcomes resulting from the use of different laser spot sizes in the treatment of PWS by PDL. Thus, an in vivo investigation into the differences in safety and efficacy of treatment between two spot sizes (7 mm vs. Read More

Am J Med Genet A 2017 Sep 26;173(9):2346-2352. Epub 2017 Jun 26.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.

RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Read More

Orthod Craniofac Res 2017 Jun;20 Suppl 1:32-38

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.

Objectives: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

Pediatrics 2017 Jul 15;140(1). Epub 2017 Jun 15.

Department of Dermatology, Vascular Anomalies Center, University Clinic of Navarra, Pamplona, Spain

Although capillary malformations (CMs) are not usually serious health problems in themselves, they can occasionally be warning signs for syndromes with more serious or aggressive vascular malformations not readily apparent at birth or on initial examination. We describe a series of 9 patients with a common phenotype: (1) CM on the fingertips; (2) associated combined vascular (lymphatic-venous) malformations on the trunk and/or extremities; and (3) in some cases, partial overgrowth and asymmetry of the extremities. Data were collected retrospectively for patients with CM on the fingertips who were treated at 2 Vascular Anomalies Centers from January 2006 to January 2016. Read More

Br J Dermatol 2017 Jun 9. Epub 2017 Jun 9.

Department of Surgery, Beckman Laser Institute and Medical Clinic, University of California, Irvine, Irvine, California, 92612, USA.

Port wine stain (PWS) is a vascular malformation characterized by a progressive dilatation of post-capillary venules, but the molecular pathogenesis remains obscure. We hypothesized that PWS endothelial cells (ECs) present a unique molecular phenotype that lead to pathoanatomic PWS vasculatures. We herein show multiple clinicopathologic features of PWS blood vessels during the development and progression of the disease. Read More

Pathologe 2017 Jul;38(4):294-302

Klinik für Hals‑, Nasen- und Ohrenheilkunde (HNO), Klinikum Augsburg, Sauerbruchstraße 6, 86156, Augsburg, Deutschland.

Salivary gland tumors and tumor-like lesions in the pediatric population are uncommon. They comprise a heterogeneous group of infectious/inflammatory and neoplastic conditions. Pediatric salivary neoplasms include benign tumors of mesenchymal or epithelial origin as well as malignancies of epithelial (carcinomas), mesenchymal (sarcoma) or hematolymphoid (lymphoma) derivation. Read More

Nephrol Ther 2017 Apr;13 Suppl 1:S155-S156

Inserm U1151, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 149, rue de Sèvres, 75015 Paris, France; Service de néphrologie transplantation adultes, hôpital Necker-Enfants malades, 149, rue de Sèvres, 75015 Paris, France. Electronic address:

This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Read More

Pediatr Neurosurg 2017 31;52(4):261-267. Epub 2017 May 31.

Division of Pediatric Epilepsy, Department of Pediatric Neurology, Rainbow Babies and Children's Hospital, and Department of Neurology and Neurosurgery, The Neurological Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, USA.

We present case reports of 2 pediatric patients who were both found to have pial arteriovenous fistulas (AVFs) with subsequent genetic analysis revealing mutations in the RASA1 gene. Considering their family history of distinct cutaneous lesions, these mutations were likely inherited as opposed to de novo mutations. Patient 1 had large capillary malformations on the left side of the face and neck, associated with macrocephaly, and presented at the age of 32 months with speech delay, right-sided weakness, and focal seizures involving the right side of the body. Read More

Hum Pathol 2017 May 26. Epub 2017 May 26.

Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine -, Chicago, IL.

Renal vascular lesions (RVL) are rare and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of twelve children. Seven lesions were classified as previously recognized entities: vascular malformations (four), papillary endothelial hyperplasia (two), and pyogenic granuloma (lobular capillary hemangioma) (one). Read More

Handb Clin Neurol 2017 ;143:5-13

Department of Neurological Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

Arteriovenous malformations (AVMs) are vascular deformities involving fistula formation of arterial to venous structures without an intervening capillary bed. Such anomalies can prove fatal as the high arterial flow can disrupt the integrity of venous walls, thus leading to dangerous sequelae such as hemorrhage. Diagnosis of these lesions in the central nervous system can often prove challenging as intracranial AVMs represent a heterogeneous vascular pathology with various presentations and symptomatology. Read More

Acta Medica (Hradec Kralove) 2017;60(1):19-26. Epub 2017 May 26.

Pediatric Surgery Department, Bogomolets National Medical University, Kyiv, Ukraine.

The aim of the study was to analyze the cohort of inpatient children with vascular anomalies according to the globally accepted classification introduced by the ISSVA.

Methods: The study included 205 inpatient children within the time period of the years 2010-2015. Types of vascular anomalies (VAs), age of patients, diagnostic procedures, and anatomical localization of VAs were analyzed. Read More

J Clin Invest 2017 Jun 22;127(7):2569-2585. Epub 2017 May 22.

Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Capillary malformation-arteriovenous malformation (CM-AVM) is a blood and lymphatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes p120 RasGAP (RASA1), a negative regulator of the Ras small GTP-binding protein. How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood. Here, we report that disruption of the Rasa1 gene in adult mice resulted in loss of LV endothelial cells (LECs) specifically from the leaflets of intraluminal valves in collecting LVs. Read More

J Neurosurg Pediatr 2017 Aug 19;20(2):164-169. Epub 2017 May 19.

Pediatric Neurology, Department of Pediatrics, Vanderbilt University Medical Center, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee.

The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage. Read More

Craniomaxillofac Trauma Reconstr 2017 Jun 16;10(2):166-170. Epub 2017 Mar 16.

Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Ain Shams University, Cairo, Egypt.

Various forms of vascular lesion affect the head and neck region. The head and neck vascular lesions are classified into neoplasms and malformations. Neoplasm presents either as hemangioma or lymphangioma; neoplasm usually presents in young age compared with vascular malformation. Read More

J Mol Diagn 2017 Jul 11;19(4):613-624. Epub 2017 May 11.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

Recent studies have discovered a group of overgrowth syndromes, such as congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) syndrome, Proteus syndrome, and megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome, are caused by somatic activating variants in genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these variants, Sanger sequencing often yields negative results. We have developed and validated a next-generation sequencing (NGS) panel that targets all known variants associated with these syndromes. Read More

BMJ Case Rep 2017 May 3;2017. Epub 2017 May 3.

Department of Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Arteriovenous fistulas (AVF) are an entity most commonly seen in the head and neck region. An AVF is a direct connection between the arterial feeders and the draining veins without intervening capillary beds (unlike an arteriovenous malformation in which a nidus intervenes between the arteries and veins). We describe a case of traumatic AVF in a child aged 9 years, who presented with a pulsatile scalp swelling following blunt trauma to the head. Read More

Clin Case Rep 2017 May 13;5(5):559-566. Epub 2017 Mar 13.

Department of Anatomical Pathology (Seals)Prince of Wales HospitalSydneyNew South WalesAustralia.

Alveolar capillary dysplasia (ACD) is a rare condition with variable presentation and clinical course. Clinicians should consider this diagnosis in neonates presenting with nonlethal congenital gastrointestinal malformation, a period of well-being after birth then unremitting hypoxemia and refractory pulmonary hypertension. Lung biopsy and FOXF1 gene testing may help in diagnosis. Read More

Indian J Pediatr 2017 Aug 3;84(8):612-617. Epub 2017 May 3.

Department of Pediatric Surgery, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

Anomalies affecting the capillary and venous channels form the bulk of the spectrum of vascular anomalies. As per International Society for the Study of Vascular Anomalies (ISSVA) classification, these are referred to as hemangiomas and venous malformations respectively. The present article is a descriptive note of their management and outcomes. Read More

J Neurointerv Surg 2017 May 2. Epub 2017 May 2.

Department of Clinical Neurological Sciences, London Health Sciences Centre, London, Ontario, Canada.

Introduction: Brain arteriovenous malformations are abnormal connections between arteries and veins without an intervening capillary bed. Endovascular glue embolization with N-butyl cyanoacrylate (NBCA) is an accepted form of treatment. The reported complication rates vary widely from 2% to 15%, and timing of polymerization appears to play a major role. Read More

Lasers Surg Med 2017 Apr 22. Epub 2017 Apr 22.

Klinika Ambroziak, Warsaw, Poland.

Objective: We wanted to asses the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations with the use of three-dimensional (3D) image analysis.

Study Design And Methods: Retrospective single center study on previously non-treated patients with facial capillary malformations (CM) was performed. A total of 44 consecutive Caucasian patients aged 5-66 were included. Read More

J Oral Maxillofac Surg 2017 Mar 22. Epub 2017 Mar 22.

Staff, Vascular Birthmark Institute of New York, Department of Otolaryngology, Lenox Hill and Manhattan Eye, Ear, and Throat Hospitals, New York, NY; Assistant Clinical Professor, Department of Ophthalmology, Harvard Medical School, Boston, MA. Electronic address:

Purpose: Vascular lip anomalies include infantile hemangiomas, venous malformations, and arteriovenous malformations. Surgical management can be complicated by alterations in horizontal length, vertical height, and lip thickness from the underlying pathology. Additional reconstructive challenges include preservation of oral continence, vermillion definition, and the sublabial sulcus. Read More

J Clin Neurol 2017 Apr;13(2):170-174

Department of Pediatric Neurology and Epilepsy Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Background And Purpose: A thick corpus callosum (TCC) can be associated with a very grave outcome in fetuses, but its clinical presentation in older children seems to be markedly different.

Methods: The corpus callosum (CC) was defined as thick based on observations and impressions. We reviewed cases of children who were diagnosed as TCC based on brain magnetic resonance imaging (MRI) studies. Read More

J Funct Biomater 2017 Apr 13;8(2). Epub 2017 Apr 13.

Department of Chemistry, Nara Medical University, 840 Shijo-cho, Kashihara 6340813, Japan.

We suggest a novel method that uses artificial blood cells (hemoglobin vesicles, Hb-Vs) as photosensitizers in dye laser treatment (at 595-nm wavelength) for port-wine stains (i.e., capillary malformations presenting as red birthmarks) based on the results of animal experiments. Read More

J Eur Acad Dermatol Venereol 2017 Apr 12. Epub 2017 Apr 12.

Department of Dermatology, Allergology and Venerology, University Hospitals Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Germany.

Adv Biomed Res 2017 7;6:27. Epub 2017 Mar 7.

Department of Dermatology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. Read More

Asia Pac J Ophthalmol (Phila) 2017 Mar-Apr;6(2):153-158

Departments of Ophthalmic and Facial Plastic Surgery and Ocular Oncology, HORUS Specialty Eye Care, Bangalore, India.

The aim of this review article is to provide an update of the current literature on orbital tumors. The authors conducted a PubMed literature search of English language articles published between January 2014 and December 2016 using the following search items: orbit, tumors, lacrimal gland, lymphoma, hemangioma, lymphangioma. The authors included reviews, original articles, case series, and case reports with relevant new information. Read More

J Clin Ultrasound 2017 Apr 3. Epub 2017 Apr 3.

Servicio de Obstetricia y Ginecología, Unidad de Diagnóstico Prenatal, Hospital Universitario Puerta de Hierro Majadahonda, Calle Manuel de Falla n°1., 28222, Madrid, Spain.

Pial arteriovenous (AV) fistulae have rarely been diagnosed in utero. They are characterized by one or more pial arteries flowing directly into a cortical vein without any shunt or interposed capillary bed. In the fetus and the newborn up to 2 years of age, the most common clinical manifestation is heart failure resulting from fistula overload. Read More

J Thorac Cardiovasc Surg 2017 Jun 7;153(6):1542-1550. Epub 2017 Feb 7.

Department of Cardiovascular Surgery, University of Bern, Bern, Switzerland.

Objectives: To assess safety and clinical performance of a novel bioabsorbable vascular graft in pediatric patients with univentricular cardiac malformation who received surgical correction via an extracardiac cavopulmonary conduit.

Methods: The implanted graft material is designed to attract patient's own cells and proteins, which trigger a cascade of physiological events leading to endogenous tissue restoration. As the graft resorbs progressively after implantation, components of native tissue including collagen, endothelial lining, and capillary blood vessels develop and organize into a natural tissue. Read More

Pediatr Dermatol 2017 Mar;34(2):156-159

Department of Dermatology, Pusan National University Hospital, Busan, Korea.

Deletions within chromosome region 5q14.3q15 have been associated with a spectrum of disorders including developmental delay, hypotonia, absent speech, mild facial dysmorphism, seizures, and brain anomalies. Some cases of concomitant neurologic abnormalities and cutaneous vascular malformation associated with 5q14. Read More

J Dermatolog Treat 2017 Mar 30:1-6. Epub 2017 Mar 30.

a Department of Dermatology , Seoul Metropolitan Government Seoul National University Boramae Medical Center , Seoul , Korea.

Background: The regeneration or revascularization of blood vessels after pulsed dye laser (PDL) treatment is one of the causes of treatment failures of cutaneous capillary malformations (CM). Recently, topical administration of rapamycin was introduced as a possible adjunctive therapeutic option to minimize postlaser revascularization in facial CM.

Objectives: We evaluated the effect of combined use of 1% topical rapamycin with PDL compared to PDL alone in cutaneous CM of trunk or extremities and tried to identify the optimal duration of topical rapamycin application. Read More

Lasers Med Sci 2017 Apr 3;32(3):629-640. Epub 2017 Feb 3.

State Key Laboratory of Multiphase Flow in Power Engineering, Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China.

Based on the principle of selective photothermolysis, 1064 nm Nd:YAG laser has great potential for the treatment of deeper and larger PWS. However, the clinical effectiveness is limited because of the weak absorption of blood to Nd:YAG laser. The aim of this study is to obtain the optimal irradiation conditions to effectively destroy vascular lesions with the assistance of PEG-modified gold NRs to enhance blood absorption of Nd:YAG laser. Read More

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

Angiogenesis 2017 Aug 24;20(3):303-306. 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

World Neurosurg 2017 Apr 19;100:712.e15-712.e18. Epub 2017 Jan 19.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Department of Neurological Surgery, Johns Hopkins Medical School, Baltimore, Maryland, USA.

Background: Intraoperative imaging during surgical ligation of a spinal dural arteriovenous fistula (SDAVF) is usually based on fluorescence angiography, intraoperative Doppler ultrasound, and intraoperative digital subtraction angiography. We investigated the potential role of contrast-enhanced ultrasound (CEUS) during surgical management of SDAVF. The main features of SDAVF on CEUS before treatment are described as well as their modifications after surgical ligation. Read More

Epilepsy Behav 2017 Feb 13;67:70-76. Epub 2017 Jan 13.

Department of Histology and Embryology, Istanbul Faculty of Medicine, Istanbul University, Turkey.

Purpose: This study investigated the effects of cortical dysplasia (CD) on electrophysiology and blood-brain barrier (BBB) permeability in WAG/Rij rats with genetic absence epilepsy.

Methods: Pregnant WAG/Rij rats were exposed to 145cGy of gamma-irradiation on embryonic day 17 to induce CD. An electroencephalogram was recorded from cortices subdurally in the offspring of the pregnant animals. Read More

J Clin Neurosci 2017 Mar 10;37:83-90. Epub 2017 Jan 10.

Department of Neural Regenerative Medicine, Research Institute for Frontier Medicine, Sapporo Medical University, School of Medicine, Japan; Department of Neurology, Yale University, School of Medicine, New Haven, CT 06510, USA; Center for Neuroscience and Regeneration Research, VA Connecticut Healthcare System, West Haven, CT 06516, USA.

Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Read More

BMC Med Genet 2017 Jan 13;18(1). Epub 2017 Jan 13.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 1 Kawasumi, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.

Background: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder. Read More