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    A review of craniofacial and dental findings of the RASopathies.
    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

    Fingertip Capillary Malformation and Associated Disorders: Report of 9 Cases.
    Pediatrics 2017 Jun 15. 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

    Coexistence of EphB1 and EphrinB2 in Port Wine Stain Endothelial Progenitor Cells Contributes to Clinicopathological Vasculature Dilatation.
    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

    [Pediatric salivary gland tumors and tumor-like lesions].
    Pathologe 2017 Jun 9. Epub 2017 Jun 9.
    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

    [PIK3CA-related overgrowth syndrome (PROS)].
    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

    Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management.
    Pediatr Neurosurg 2017 May 31. 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

    Congenital Capillary Proliferation of the Kidney: A Distinctive Renal Vascular Lesion of Childhood.
    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

    Epidemiology, genetics, pathophysiology, and prognostic classifications of cerebral arteriovenous malformations.
    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

    RASA1 regulates the function of lymphatic vessel valves in mice.
    J Clin Invest 2017 May 22. 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

    Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.
    J Neurosurg Pediatr 2017 May 19:1-6. 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

    Management of a Life Threatening Bleeding Following Extraction of Deciduous Second Molar Related to a Capillary Haemangioma.
    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

    Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
    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

    A case of pulsatile scalp swelling in a child.
    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

    Antenatal gastrointestinal anomalies in neonates subsequently found to have alveolar capillary dysplasia.
    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

    Vascular Anomalies: A Pediatric Surgeon's Perspective.
    Indian J Pediatr 2017 May 3. 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

    A systematic characterization of the factors influencing polymerization and dynamic behavior of n-butyl cyanoacrylate.
    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

    Retrospective single center study of the efficacy of large spot 532 nm laser for the treatment of facial capillary malformations in 44 patients with the use of three-dimensional image analysis.
    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

    One-Stage Supramaximal Full-Thickness Wedge Resection of Vascular Lip Anomalies.
    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

    Thick Corpus Callosum in Children.
    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

    Artificial Red Blood Cells as Potential Photosensitizers in Dye Laser Treatment Against Port-Wine Stains.
    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

    Rhodoid nevus syndrome: why is this name preferable to «capillary malformation-arteriovenous malformation»?
    J Eur Acad Dermatol Venereol 2017 Apr 12. Epub 2017 Apr 12.
    Department of Dermatology, Allergology and Venerology, University Hospitals Schleswig-Holstein, Campus Kiel, Germany.
    Until today, the term capillary malformation (CM) designates many quite different skin disorders.(1) One of them - called capillary malformation-arteriovenous malformation (CM-AVM)(2) - represents an autosomal dominant trait caused by mutations in RASA1.(3) We here describe the characteristic CMs of this trait in a child whithout any AVM, and provide arguments why the term CM-AVM should be replaced by "rhodoid nevus syndrome". Read More

    Proteus Syndrome with Arteriovenous Malformation.
    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

    Recent Advances in Orbital Tumors--A Review of Publications from 2014-2016.
    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

    Nongalenic pial arteriovenous fistula: Prenatal diagnosis.
    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

    Total cavopulmonary connection with a new bioabsorbable vascular graft: First clinical experience.
    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

    5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
    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

    Prospective pilot study on combined use of pulsed dye laser and 1% topical rapamycin for treatment of nonfacial cutaneous capillary malformation.
    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

    Nd:YAG laser-induced morphology change and photothermal conversion of gold nanorods with potential application in the treatment of port-wine stain.
    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

    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 Intraoperative Contrast-Enhanced Ultrasound?
    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

    Co-expression of tissue factor and IL-6 in immature endothelial cells of cerebral cavernous malformations.
    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

    A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
    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

    Study of the Radial Peripapillary Capillary Network in Congenital Optic Disc Anomalies With Optical Coherence Tomography Angiography.
    Am J Ophthalmol 2017 Apr 28;176:1-8. Epub 2016 Dec 28.
    Eye Clinic, Department of Neurosciences, Reproductive Sciences and Dentistry, University of Naples Federico II, Naples, Italy.
    Purpose: To evaluate the radial peripapillary capillary network with optical coherence tomography angiography (angio-OCT) in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible correlations between the neural vascular structure and the pathogenesis of congenital optic disc anomalies.

    Design: Prospective observational comparative case series.

    Methods: Fifteen eyes of 15 patients with congenital optic disc anomalies were enrolled in this study. 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

    Defective lymphatic valve development and chylothorax in mice with a lymphatic-specific deletion of Connexin43.
    Dev Biol 2017 Jan 27;421(2):204-218. Epub 2016 Nov 27.
    Department of Physiology, University of Arizona, Tucson AZ 85724, USA. Electronic address:
    Lymphatic valves (LVs) are cusped luminal structures that permit the movement of lymph in only one direction and are therefore critical for proper lymphatic vessel function. Congenital valve aplasia or agenesis can, in some cases, be a direct cause of lymphatic disease. Knowledge about the molecular mechanisms operating during the development and maintenance of LVs may thus aid in the establishment of novel therapeutic approaches to treat lymphatic disorders. 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

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