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Sci Rep 2019 Feb 18;9(1):2225. Epub 2019 Feb 18.

Mosaiques Diagnostics GmbH, Hannover, Germany.

Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. Read More

Genet Med 2019 Feb 14. Epub 2019 Feb 14.

Department of Pathology, University of Utah, Salt Lake City, UT, USA.

Purpose: EPHB4 variants were recently reported to cause capillary malformation-arteriovenous malformation 2 (CM-AVM2). CM-AVM2 mimics RASA1-related CM-AVM1 and hereditary hemorrhagic telangiectasia (HHT), as clinical features include capillary malformations (CMs), telangiectasia, and arteriovenous malformations (AVMs). Epistaxis, another clinical feature that overlaps with HHT, was reported in several cases. Read More

Open Access Maced J Med Sci 2019 Jan 23;7(2):208-210. Epub 2019 Jan 23.

University of Rome G. Marconi, Rome, Italy.

Aim: To assess the efficacy in the treatment of port wine stain in the head and neck by using (Vbeam perfecta®).

Methods: Forty-two port wine stain patients were recruited at the National Hospital of Dermatology and Venereology, Hanoi, Vietnam.

Results: We reported an excellent response (43. Read More

Cir Pediatr 2019 Jan 21;32(1):49-52. Epub 2019 Jan 21.

Servicio de Cirugía Pediátrica. Hospital Universitario La Paz. Madrid.

Introduction: Sinus pericranii (SP) is a rare vascular anomaly consisting in an abnormal intradiploic communication between intra and extra cranial venous systems. It usually presents as a congenital soft mass in the cranial midline with progressive growth, which enlarges significantly with Valsalva maneuver. A similar congenital vascular anomaly involving intra and extra cranial arterial systems has not been previously described in the medical literature. Read More

Med Hypotheses 2019 Feb 7;123:86-88. Epub 2019 Jan 7.

Department of Neurosurgery, University of Illinois at Chicago, United States. Electronic address:

Cerebral arteriovenous malformations (AVMs) are an uncommon vascular anomaly that carry the risk of rupture and hemorrhage. Several factors have been implicated in the propensity of an AVM to bleed. One such factor is stenosis of AVM draining veins, as impairment of the AVM venous drainage system is associated with increased risk of intracranial hemorrhage. Read More

Front Cell Neurosci 2018 9;12:525. Epub 2019 Jan 9.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

Heterozygous loss of activin receptor-like kinase 1 (Alk1) can lead to hereditary hemorrhagic telangiectasia (HHT), which is a kind of vascular disease characterized by direct connections between arteries and veins with the lacking of capillaries, and develops into arteriovenous malformations (AVMs) in later stage. However, the changes of Alk1 in human sporadic cerebral AVMs (cAVMs) remain unknown. In the present study, we used endothelial cells (ECs) derived from human cAVMs (cAVM-ECs) specimens, to explore the characteristics of cAVM-ECs and the relationship between Alk1 and human sporadic cAVMs. Read More

Eplasty 2019 7;19:ic1. Epub 2019 Jan 7.

Department of Plastic Surgery, Morsani College of Medicine, Tampa, Fla.

J Cutan Pathol 2019 Jan 22. Epub 2019 Jan 22.

Department of Pathology, Complejo Hospitalario Universitario A Coruña, A Coruña, Spain.

A 52-year-old man presented with a rapidly growing red tumor on the central neckline. It had appeared over a congenital flat and pinkish vascular lesion that involved the shoulder and the upper anterior area of his chest. Intermingled with the pinkish stain, there were also some blue nodules several millimeters in diameter. Read More

Fetal Pediatr Pathol 2019 Jan 19:1-6. Epub 2019 Jan 19.

c Department of Gyneco-Obstetrics, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar , Tunis , Tunisia.

Background: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation.

Case Report: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy. Read More

Forensic Sci Med Pathol 2019 Jan 16. Epub 2019 Jan 16.

Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, No. 13 Hangkong Road, Wuhan, 430030, People's Republic of China.

Cerebral capillary telangiectasia (CCT) is a type of vascular malformation that is incidentally encountered in clinical practice. Diseased vessels are small and usually clinically benign over the course of a patient's life. Although most CCT patients are asymptomatic, the situation becomes complicated when trauma is encountered. Read More

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Feb 7;1106-1107:64-70. Epub 2019 Jan 7.

University Children's Hospital Münster, Albert Schweitzer-Campus 1, Gebäude A13, 48149 Münster, Germany. Electronic address:

Background: Congenital disorders of glycosylation (CDG) are a growing group of inherited diseases causing manifold symptoms. Routine diagnostic procedures are high performance liquid chromatography (HPLC) or isoelectric focusing (IEF) of serum transferrin.

Methods: We introduce a modified method to screen for glycosylation abnormalities from dried blood spot (DBS) samples based on isoelectric focusing. Read More

Clin Genet 2019 Jan 11. Epub 2019 Jan 11.

Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

Capillary malformation-arteriovenous malformation (CM-AVM) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Here we report RASA1 constitutional mosaicism, defined here as the presence of a mosaic variant in all cell types of an individual, in two patients with CM-AVM. Read More

BMC Musculoskelet Disord 2019 Jan 5;20(1):10. Epub 2019 Jan 5.

Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, 100730, China.

Background: Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis.

Case Presentation: We presented an 18-year-old female with KTS and kyphoscoliosis. Read More

Neuron 2019 Feb 18;101(3):429-443.e4. Epub 2018 Dec 18.

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA; Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA; Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT, USA. Electronic address:

Normal vascular development includes the formation and specification of arteries, veins, and intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common and severe neonatal brain arterio-venous malformations, shunting arterial blood into the brain's deep venous system through aberrant direct connections. Exome sequencing of 55 VOGM probands, including 52 parent-offspring trios, revealed enrichment of rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and vascular development. Read More

Zhonghua Kou Qiang Yi Xue Za Zhi 2018 Dec;53(12):858-861

Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

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), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

Childs Nerv Syst 2019 Mar 11;35(3):569-574. Epub 2018 Dec 11.

Department of Diagnostic Imaging, National University Health System, 1E Kent Ridge Rd, Singapore, 119228, Singapore.

Objective: Pial arteriovenous fistula (AVF) is an extremely rare entity due to direct arterial connection with the venous plexus without an intervening capillary network. The objective of this article is to describe a unique case of congenital pial AVF along the interhemispheric falx with complete callosal agenesis and malformation of cortical development within the bilateral anterior cerebral artery territories. We also demonstrated the distinctive feature of temporal stability of the extensive intracranial abnormalities without active intervention. Read More

J Pediatr Surg 2019 Feb 7;54(2):266-271. Epub 2018 Nov 7.

Division of Transplant Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL, USA. Electronic address:

Background/purpose: The Abernethy malformation (AM) is a congenital venous malformation in which the splanchnic venous return bypasses the liver and drains directly into the systemic circulation. This deprives the liver of hepatotrophic growth factors and allows metabolic products of digestion to enter the systemic veins without the benefit of passing through the liver. The histologic features of liver biopsies in children with an AM were reviewed. Read More

Vasa 2018 12 10:1-5. Epub 2018 Dec 10.

1 Division of Angiology and Hemostasis, University Hospitals and Faculty of Medicine, Geneva, Switzerland.

Pregnancy can influence the development and progression of congenital arteriovenous malformations (AVM) and thus lead to life-threatening complications for the mother and fetus like high output cardiac failure and premature delivery. The simultaneous presence of a capillary malformation and AVM strongly suggests a RASA1 related disorder. Keywords: Arteriovenous malformations, capillary malformation-arteriovenous malformation, capillaries/abnormalities, port-wine stain, pregnancy, RASA1 protein. Read More

Cell J 2019 Apr 18;21(1):70-77. Epub 2018 Nov 18.

Department of Pediatrics Cardiology, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic Address:

Objective: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several overlapping signaling pathways including Ras/ ERK pathway. Read More

J AAPOS 2018 Nov 20. Epub 2018 Nov 20.

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania. Electronic address:

Racemose hemangioma is a rare, benign vascular malformation. In the episclera, it appears as dilated, tortuous blood vessels that pass from the fornix over the globe surface to the limbal area, without capillary architecture, and then loop backward into the fornix. Fluorescein angiogram reveals the vascular malformation with rapid flow and confirms the episcleral vessels to be large in caliber and with a curvilinear, twisted configuration. Read More

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):449-457

King Edward Medical University, Lahore-Pakistan.

Background: Intracranial arteriovenous malformations (AVMs) consist of an abnormal nidus of blood vessels that shunt blood directly from an artery to a vein and thereby bypass an intervening capillary bed. AVMs may be found as an incidental finding. They may be associated with intracranial haemorrhage, seizures, headaches or neurological deficits. Read More

Biochem Biophys Res Commun 2018 Dec 16;507(1-4):484-488. Epub 2018 Nov 16.

Division of Pathogenic Biochemistry, Institute of Natural Medicine, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.

STAM-binding protein, STAMBP, is a JAMM-family deubiquitinating enzyme containing the microtubule-interacting/transport domain and STAM-binding domain. Although the biological importance of STAMBP in development has been recognized because the microcephaly-capillary malformation syndrome in human is caused by its somatic mutations, the role of STAMBP in cancer has not yet been determined. In this study, we demonstrate that STAMBP is a key molecule for regulating melanoma migration and invasion, but not survival, by knocking down STAMBP in vitro. Read More

Cardiovasc Pathol 2019 Jan - Feb;38:39-41. Epub 2018 Oct 24.

Department of Pathology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75015-, Paris, France.

We report here a case of capillary vascular malformation developed in a bicuspid aortic valve incidentally detected during valve replacement in a 67-year-old male patient. The International Society for the Study of Vascular Anomalies (ISSVA) classification was used to classify this vascular lesion instead of using the term hemangioma. The differential diagnosis and the literature are reviewed. Read More

JAMA Ophthalmol 2019 Jan;137(1):91-95

Vascular Biology Program, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Importance: Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.

Objective: To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c. Read More

Acta Ophthalmol 2018 Nov 9. Epub 2018 Nov 9.

Department of Ophthalmology at Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.

Purpose: To investigate the associations of cytokine concentrations in aqueous humour with the severity of retinal vascular abnormalities, exudation and fibrosis in patients with Coats' disease.

Methods: Aqueous humour samples were collected in 23 paediatric patients (23 eyes) with Coats' disease and six age-matched control patients (six eyes) with congenital cataract in this cross-sectional, case-control study. Through Cytometric Bead Array technology, six angiogenic, inflammatory and fibrotic cytokines were measured for their concentrations in aqueous humour. Read More

Int J Cardiovasc Imaging 2018 Nov 1. Epub 2018 Nov 1.

Division of Interventional Radiology, Department of Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. Although asymptomatic in ~ 50% individuals, it can present with the dreaded complications of stroke or intracranial abscess in high-risk individuals including pregnant women, if untreated. The mainstay of treatment is now endovascular embolization of the feeding artery which can alleviate the symptoms and prevent these complications. Read More

Pan Afr Med J 2018 19;30:140. Epub 2018 Jun 19.

Service de Dermatologie-Vénérologie, Hôpital Militaire d'Instruction Mohammed V, Rabat, Maroc.

Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload disease known as Fabry Disease. Here we report the case of a 56-year old patient, with no notable medical history, presenting with nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules without extracutaneous manifestations on the left malar region, that had occurred 4 months before. Read More

J Dermatol 2018 Dec 27;45(12):1478-1480. Epub 2018 Oct 27.

Department of Plastic and Reconstructive Surgery, Shanghai Ninth Peoples Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Biochem Pharmacol 2018 Dec 24;158:185-191. Epub 2018 Oct 24.

Laboratoire de physiologie et pharmacologie, Faculté de Médecine, Université libre de Bruxelles, ULB, Belgium. Electronic address:

Blood circulation, facilitating gas exchange and nutrient transportation, is a quintessential feature of life in vertebrates. Any disruption to blood flow, may it be by blockade or traumatic rupture, irrevocably leads to tissue infarction or death. Therefore, it is not surprising that hemostasis and vascular adaptation measures have been evolutionarily selected to mitigate the adverse consequences of altered circulation. Read More

Virchows Arch 2019 Jan 24;474(1):47-57. Epub 2018 Oct 24.

King's College Hospital, Institute of Liver Studies, London, UK.

Congenital portosystemic shunt (CPSS) is a congenital anomaly resulting in partial or complete diversion of the portal blood into the systemic circulation. The literature on the histological changes in livers of patients with CPSS is limited. Liver histology of 22 consecutive patients managed in our institution between 2001 and 2016 was reviewed. Read More

Indian J Ophthalmol 2018 Nov;66(11):1644-1646

Department of Ophthalmology, Little Flower Hospital and Research Centre, Angamaly, Kerala, India.

Moyamoya disease (MMD) is a chronic progressive, occlusive cerebrovascular disease in the circle of Willis and the feeding arteries. Morning glory disc anomaly (MGDA) is characterized by an abnormal excavated optic disc with radial emergence of blood vessels from the rim of the disc. We describe a case of moyamoya syndrome (MMS), a rare entity among Indian ethnicity, associated with MGDA and regressed facial capillary hemangiomas, which are relatively less reported presentations of MMD. Read More

BMJ Case Rep 2018 Oct 21;2018. Epub 2018 Oct 21.

Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

Radiologia 2019 Jan - Feb;61(1):4-15. Epub 2018 Oct 3.

University of Virginia Health System, Department of Radiology and Medical Imaging, 1215 Lee Street, Charlottesville, Virginia, USA; University of Missouri Health System, Department of Radiology, One Hospital Dr, Columbia, Missouri, USA.

Vascular malformations and tumors, also known as "vascular anomalies", comprise an extensive variety of lesions involving all parts of the body. Knowledge of their classification and imaging characteristics is paramount. Whereas hemangiomas are benign vascular tumors, characterized by cellular proliferation and hyperplasia; vascular malformations are not real tumors and characteristically exhibit normal endothelial turnover. Read More

Ann Saudi Med 2018 Sep-Oct;38(5):376-380

Dr. Hebah Mohammadsalam Musalem, Department of Medicine,, Alfaisal University, Riyadh 11551,, Saudi Arabia, T: 966533112656, ORCID:http://orcid.org/0000-0002-2478-9638.

We used a topical formulation of sirolimus for treating port wine stain (PWS). Although pulsed dye laser (PDL) is the current treatment of choice for PWS, fast neovascularization after treatment is a major drawback. With PDL therapy there has been insufficient improvement and frustrating side effects. Read More

Ital J Pediatr 2018 Sep 19;44(1):110. Epub 2018 Sep 19.

Pediatric Division, Department of Pediatrics, University Hospital of Verona, Verona, Italy.

Background: Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR cellular pathway, a signaling cascade that plays a key role in cellular growth. Overgrowth syndromes are frequently misdiagnosed. Read More

Pediatr Dermatol 2018 Nov 14;35(6):e378-e381. Epub 2018 Sep 14.

Department of Pathology, Institut Imagine, APHP, Hôpital Universitaire Necker-Enfants Malades, Université Paris Descartes - Sorbonne Paris Cité, Paris, France.

Verrucous hemangioma or verrucous venous malformation is a superficial venous malformation frequently misdiagnosed as a lymphatic malformation because of its classical hyperkeratotic appearance. Clinical characteristics of VVM were studied in patients with a histologically confirmed VVM, and validated in a prospective study of 18 patients. VVM was made of separated vascular elements with irregular shape, in a linear disposition, with variable thickness and keratosis. Read More

Pediatr Dermatol 2018 Sep;35(5):681-682

Department of Pediatrics, O.L. Vrouw Hospital, Aalst, Belgium.

Congenit Heart Dis 2018 Nov 11;13(6):978-987. Epub 2018 Sep 11.

National Institute of Cardiology, Rio de Janeiro, Brazil.

Objective: Adults with congenital heart disease share some features with those with chronic heart failure. Although microvascular endothelial dysfunction has been described in chronic heart failure, evaluation of the microcirculation in adults with congenital heart disease is lacking. The present study aimed to investigate systemic microvascular reactivity in adults with congenital heart disease. Read More

Dermatol Clin 2018 Oct 31;36(4):389-395. Epub 2018 Jul 31.

Dermatology Unit, University of Campania Luigi Vanvitelli, Via Pansini 5, Naples 80131, Italy.

Cutaneous vascular lesions (VLs) represent a very common reason for dermatologic consultation for patients. In most cases, VLs are benign and self-limiting. However, because they often mimic malignant skin tumors, their correct and prompt identification is very important in daily practice. Read More

PLoS One 2018 7;13(9):e0203368. Epub 2018 Sep 7.

Swiss Cardiovascular Center, Division of Angiology, University of Bern, Bern University Hospital, Bern, Switzerland.

Introduction: Arteriovenous malformations (AVMs) are characterized by pathological high flow, low resistance connections between arteries and veins. Treatment is critically dependent on correct interpretation of angioarchitectural features. However, some microfistular AVMs do not match the characteristics described in current AVM classification systems. Read More

J Coll Physicians Surg Pak 2018 Sep;28(9):S195-S197

Department of Pediatrics, Shifa College of Medicine, Islamabad.

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia in which capillary bed is absent with direct draining of arterial blood into venous circulation. Due to increased pressure there is increased risk of bleeding. The classical triad consists of telangiectasias, epistaxis and a positive family history. Read More

Contemp Clin Dent 2018 Jul-Sep;9(3):502-508

Department of Oral Medicine and Radiology, Government Dental College, Thiruvananthapuram, Kerala, India.

An arteriovenous malformation (AVM) is a vascular malformation characterized by anomalous communications between arteries and veins without the normal intervening capillary bed. AVMs of jaw are extremely rare conditions that can give rise to dreadful complications if handled carelessly. Fifty percent of all intraosseous AVMs occur in the maxillofacial region and are extremely infrequent in the mandible. Read More

Hum Mutat 2018 Dec 24;39(12):1885-1900. Epub 2018 Sep 24.

Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.

Cerebral cavernous malformation (CCM) is a capillary malformation arising in the central nervous system. CCM may occur sporadically or cluster in families with autosomal dominant transmission, incomplete penetrance, and variable expressivity. Three genes are associated with CCM KRIT1, CCM2, and PDCD10. Read More

J Oral Maxillofac Pathol 2018 May-Aug;22(2):287

Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Aurangabad, Maharashtra, India.

"Vascular malformations" comprise a group of lesions, formed by an anomalous proliferation of angiovascular or lymphovascular structures. Arteriovenous malformations (AVMs) are high-flow malformation, characterized by direct communication between arteries and veins, lacking normal capillary network. AVMs are usually congenital. Read More

World Neurosurg 2018 Nov 23;119:274-277. Epub 2018 Aug 23.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Background: Varix of the drainage route can spontaneously develop thrombosis and disappear after the treatment of the associated cerebral arteriovenous malformation (AVM). We report a rare case in which a thrombosed cerebral venous varix of the drainage route exhibited growth despite complete resection of the associated cerebral AVM.

Case Description: A 46-year-old man was diagnosed with an AVM in the left temporal lobe. Read More

Medicine (Baltimore) 2018 Aug;97(34):e12012

Department of Urology Surgery, Beijing Children's Hospital, National Center for Children's Health.

Rationale: Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA. Read More

World Neurosurg 2018 Dec 9;120:63-65. Epub 2018 Aug 9.

Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China. Electronic address:

Background: As a normal variation of the cerebral venous angioarchitecture, developmental venous anomalies (DVAs) represent a rare cause of intraparenchymal hemorrhage. Different from mixed vascular lesions, such as capillary malformations, arteriovenous malformations, arteriovenous fistulas, and thrombosis, here we describe the first case of a ruptured hemodynamic aneurysm associated with a DVA and introduce the first use of hybrid operation for the treatment of a hemorrhagic DVA.

Methods: A 14-year-old girl suffered from sudden onset of headache, aphasia, and left hemiplegia. Read More

Respir Res 2018 08 6;19(1):148. Epub 2018 Aug 6.

Member of the German Lung Research Center (DZL), Department of Lung Development and Remodelling, Max Planck Institute for Heart and Lung Research, Parkstrasse 1, 61231, Bad Nauheim, Germany.

Background: Gas exchange represents the key physiological function of the lung, and is dependent upon proper formation of the delicate alveolar structure. Malformation or destruction of the alveolar gas-exchange regions are key histopathological hallmarks of diseases such as bronchopulmonary dysplasia (BPD), chronic obstructive pulmonary disease (COPD), and pulmonary fibrosis; all of which are characterized by perturbations to the alveolo-capillary barrier structure. Impaired gas-exchange is the primary initial consequence of these perturbations, resulting in severe clinical symptoms, reduced quality of life, and death. Read More

Cardiovasc Diagn Ther 2018 Jun;8(3):316-324

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of blood vessel formation resulting in mucocutaneous telangiectasias and visceral arteriovenous malformations. Nearly half of patients with HHT will have pulmonary arteriovenous malformations (PAVM) that place them at risk for potentially fatal complications that can occur when blood bypasses the pulmonary capillary circulation or as a result of PAVM rupture. Other manifestations of HHT outside the lung may increase the rate and severity of PAVM complications, creating unique clinical challenges. Read More