294 results match your criteria Maffucci Syndrome


Electrical Permittivity and Conductivity of a Graphene Nanoplatelet Contact in the Microwave Range.

Materials (Basel) 2018 Dec 11;11(12). Epub 2018 Dec 11.

Department of Electrical and Information Engineering, University of Cassino and Southern Lazio, via G. Di Biasio 43, 03043 Cassino, Italy.

This paper investigates the electrical properties in the microwave range of a contact made by graphene nanoplatelets. The final goal is that of estimating the range of values for the equivalent electrical complex permittivity of a contact obtained by integrating low-cost graphene in the form of nanoplatelets (GNPs) into a high-frequency electrical circuit. To this end, a microstrip-like circuit is designed and realized, where the graphene nanoplatelets are self-assembled into a gap between two copper electrodes. Read More

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December 2018

Successful pregnancy after uterine artery embolization for uterine arterovenous malformation: a rare case report.

Int J Womens Health 2018 21;10:745-750. Epub 2018 Nov 21.

Università degli studi di Salerno - Dipartimento di Medicina, Chirurgia e Odontoiatria "Scuola Medica Salernitana", Salerno, Italy,

Objective: This paper reports on a rare case of pregnancy after uterine artery embolization (UAE) for uterine arteriovenous malformation (AVM). Debate exists about persistence of fertility in women after UAE. Adverse effects of this technique can modify both uterine echostructure, inducing necrosis and infarction, endometrial atrophy and uterine artery rupture, and ovarian reserve, causing persistent amenorrhea. Read More

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November 2018

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.

J Clin Invest 2018 Dec 5;128(12):5489-5504. Epub 2018 Nov 5.

Division of Clinical Immunology, Departments of Medicine and Pediatrics, and.

We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase 1. The patients exhibited hypogammaglobulinemia, lymphopenia, increased proportions of circulating γδT cells, and erythrocyte macrocytosis. Clinical severity ranged from a mild antibody deficiency to a combined immunodeficiency requiring hematopoietic stem cell transplantation. Read More

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December 2018
8 Reads

BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis.

Nat Commun 2018 09 24;9(1):3888. Epub 2018 Sep 24.

Department of Medicine, Section of Rheumatology and Gwen Knapp Center for Lupus and Immunology Research, University of Chicago, Chicago, Illinois, USA.

Transcription factor (TF) networks determine cell fate in hematopoiesis. However, how TFs cooperate with other regulatory mechanisms to instruct transcription remains poorly understood. Here we show that in small pre-B cells, the lineage restricted epigenetic reader BRWD1 closes early development enhancers and opens the enhancers of late B lymphopoiesis to TF binding. Read More

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September 2018
2 Reads

Polysaccharides from tubers of Bletilla striata: Physicochemical characterization, formulation of buccoadhesive wafers and preliminary study on treating oral ulcer.

Int J Biol Macromol 2018 Sep 15. Epub 2018 Sep 15.

Pharmacy College, Chengdu University of Traditional Chinese Medicine, Chengdu 611137, PR China. Electronic address:

The purpose of this research is to arouse people's cognition of the dual role of Bletilla striata polysaccharide (BSP)-a kind of biocompatible, biodegradable natural biological materials with myriad pharmacological activities. BSP was extracted and characterized firstly. The results indicated that BSP was composed of mannose and glucose. Read More

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September 2018
1 Read

Molecular profiling of different glioma specimens from an Ollier disease patient suggests a multifocal disease process in the setting of IDH mosaicism.

Brain Tumor Pathol 2018 Oct 29;35(4):202-208. Epub 2018 Aug 29.

Department of Pathology, Duke University Medical Center 3712, Davison Building, Durham, NC, 27710, USA.

Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. Read More

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October 2018
1 Read

Helminth parasites of the dwarf sperm whale Kogia sima (Cetacea: Kogiidae) from the Mediterranean Sea, with implications on host ecology.

Dis Aquat Organ 2018 08;129(3):175-182

Istituto Zooprofilattico Sperimentale del Mezzogiorno, 80055 Portici, Italy.

Limited data exist on the occurrence of the dwarf sperm whale Kogia sima in the Mediterranean Sea and its parasite fauna. Here, the occurrence of the anisakid species Anisakis physeteris and A. pegreffii in the stomach chambers of an adult female dwarf sperm whale, stranded in southern Italy, is reported. Read More

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August 2018
5 Reads

GPR55 signalling promotes proliferation of pancreatic cancer cells and tumour growth in mice, and its inhibition increases effects of gemcitabine.

Oncogene 2018 Dec 30;37(49):6368-6382. Epub 2018 Jul 30.

Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Blizard Institute, Centre for Cell Biology and Cutaneous Research, 4 Newark Street, London, E1 2AT, UK.

The life expectancy for pancreatic cancer patients has seen no substantial changes in the last 40 years as very few and mostly just palliative treatments are available. As the five years survival rate remains around 5%, the identification of novel pharmacological targets and development of new therapeutic strategies are urgently needed. Here we demonstrate that inhibition of the G protein-coupled receptor GPR55, using genetic and pharmacological approaches, reduces pancreatic cancer cell growth in vitro and in vivo and we propose that this may represent a novel strategy to inhibit pancreatic ductal adenocarcinoma (PDAC) progression. Read More

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December 2018
1 Read

CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Front Immunol 2018 27;9:1340. Epub 2018 Jun 27.

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States.

High-throughput genomic technologies yield about 20,000 variants in the protein-coding exome of each individual. A commonly used approach to select candidate disease-causing variants is to test whether the associated gene has been previously reported to be disease-causing. In the absence of known disease-causing genes, it can be challenging to associate candidate genes with specific genetic diseases. Read More

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June 2018
2 Reads

Oleoyl-lysophosphatidylinositol enhances glucagon-like peptide-1 secretion from enteroendocrine L-cells through GPR119.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 09 5;1863(9):1132-1141. Epub 2018 Jun 5.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, E1 2AT London, United Kingdom; Metabolic Signalling Group, School of Pharmacy and Biomedical Sciences, Curtin Health Innovation Research Institute, Curtin University, Perth, Western Australia 6102, Australia. Electronic address:

The gastrointestinal tract is increasingly viewed as critical in controlling glucose metabolism, because of its role in secreting multiple glucoregulatory hormones, such as glucagon like peptide-1 (GLP-1). Here we investigate the molecular pathways behind the GLP-1- and insulin-secreting capabilities of a novel GPR119 agonist, Oleoyl-lysophosphatidylinositol (Oleoyl-LPI). Oleoyl-LPI is the only LPI species able to potently stimulate the release of GLP-1 in vitro, from murine and human L-cells, and ex-vivo from murine colonic primary cell preparations. Read More

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September 2018

Novel Bletilla striata polysaccharide microneedles: Fabrication, characterization, and in vitro transcutaneous drug delivery.

Int J Biol Macromol 2018 Oct 16;117:928-936. Epub 2018 May 16.

Pharmacy College, Chengdu University of Traditional Chinese Medicine, Chengdu 611137, China. Electronic address:

Dissolving microneedles (MNs) have been widely studied for their applications in effective transdermal drug delivery due to their ability to dissolve within the skin. This study details the first reported successful preparation of novel dissolving MNs using Bletilla striata polysaccharide (BSP), a natural glucomannan material, and investigates the potential for using such MNs as a transdermal drug delivery vector. The prepared dissolving Bletilla striata polysaccharide microneedles (BMNs) had excellent moldability and were easily detached from the mold. Read More

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October 2018
4 Reads

Advances in the treatment of explicit water molecules in docking and binding free energy calculations.

Curr Med Chem 2018 May 13. Epub 2018 May 13.

Universita degli Studi di Milano - Dipartimento di Scienze Farmaceutiche Milano. Italy.

Background: The inclusion of direct effects mediated by water during the ligand-receptor recognition is a hot-topic of modern computational chemistry applied to drug discovery and development. Docking or virtual screening with explicit hydration is still debatable, despite the successful cases that have been presented in the last years. Indeed, how to select the water molecules that will be included in the docking process or how the included waters should be treated remain open questions. Read More

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Synovial sarcoma complicating Maffucci syndrome.

Indian J Dermatol Venereol Leprol 2018 Apr 17. Epub 2018 Apr 17.

Department of Dermatology, Farhat Hached University Hospital, Sousse, Tunisia.

Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. Read More

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April 2018
7 Reads

The Impact of Comorbid Mental Health Disorders on Complications Following Cervical Spine Surgery With Minimum 2-Year Surveillance.

Spine (Phila Pa 1976) 2018 Nov;43(21):1455-1462

Department of Orthopedic Surgery, State University of New York, Downstate Medical Center, Brooklyn, NY.

Study Design: Retrospective analysis.

Objective: To improve understanding of the impact of comorbid mental health disorders (MHDs) on long-term outcomes following cervical spinal fusion in cervical radiculopathy (CR) or cervical myelopathy (CM) patients.

Summary Of Background Data: Subsets of patients with CR and CM have MHDs, and their impact on surgical complications is poorly understood. Read More

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November 2018
18 Reads
2.300 Impact Factor

An Efficient Implementation of the Nwat-MMGBSA Method to Rescore Docking Results in Medium-Throughput Virtual Screenings.

Front Chem 2018 5;6:43. Epub 2018 Mar 5.

Dipartimento di Scienze Farmaceutiche, Sezione di Chimica Generale e Organica "Alessandro Marchesini," Università degli Studi di Milano, Milan, Italy.

Nwat-MMGBSA is a variant of MM-PB/GBSA based on the inclusion of a number of explicit water molecules that are the closest to the ligand in each frame of a molecular dynamics trajectory. This method demonstrated improved correlations between calculated and experimental binding energies in both protein-protein interactions and ligand-receptor complexes, in comparison to the standard MM-GBSA. A protocol optimization, aimed to maximize efficacy and efficiency, is discussed here considering penicillopepsin, HIV1-protease, and BCL-XL as test cases. Read More

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In Vitro and In Vivo Antioxidant Activities of the Flowers and Leaves from Paeonia rockii and Identification of Their Antioxidant Constituents by UHPLC-ESI-HRMS via Pre-Column DPPH Reaction.

Molecules 2018 Feb 12;23(2). Epub 2018 Feb 12.

College of Pharmacy, Southwest Minzu University, Chengdu 610041, China.

The genus , also known as the "King of Flowers" in China, is an important source of traditional Chinese medicine (TCM). Plants of this genus have been used to treat a range of cardiovascular and gynecological diseases. However, the potential pharmacological activity of one particular species, , has not been fully investigated. Read More

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February 2018
6 Reads

The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.

Lab Invest 2018 Apr 16;98(4):414-426. Epub 2018 Jan 16.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate. Read More

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April 2018
7 Reads
3.680 Impact Factor

Computational Design and Synthesis of Novel Fluoro-Analogs of Combretastatins A-4 and A-1.

J Fluor Chem 2017 Nov 10;203:193-199. Epub 2017 Sep 10.

Department of Chemistry, State University of New York at Stony Brook, Stony Brook, NY, 11794-3400, U. S. A.

Combretastatin A-1 (CA-1) and combretastatin A-4 (CA-4) isolated from the African bush willow are highly potent tubulin polymerization inhibitors, possessing strong antitumor activities because of their vascular disrupting properties. Extensive SAR studies have been done for CA-4 analogs. Because of poor solubility, water-soluble prodrugs of CA-4 and CA-1 have been developed, which are currently in human clinical trials. Read More

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November 2017

Maffucci Syndrome Associated With Adrenocorticotropic Hormone-Independent Bilateral Macronodular Adrenal Hyperplasia.

J Endocr Soc 2017 Jan 12;1(1):51-56. Epub 2017 Jan 12.

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.

Context: Maffucci syndrome is a rare, nonhereditary, mesodermal dysplastic disease characterized by the presence of multiple hemangiomas and enchondromas. This pathological condition, which is often unrecognized, is associated with a high prevalence of benign and malignant endocrine tumors involving pituitary, adrenal, thyroid, and parathyroid glands.

Case Description: We describe the case of a young patient presenting a history suggestive of secondary arterial hypertension and typical features of Maffucci syndrome (multiple hemangiomas and enchondromas), which were unrecognized over the previous 3 decades. Read More

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January 2017
13 Reads

Analytical Methods of Phytochemicals from the Genus Gentiana.

Molecules 2017 Nov 28;22(12). Epub 2017 Nov 28.

College of Pharmacy, Southwest Minzu University, Chengdu 610041, China.

The genus comprises approximately 400 species. Many species have a wide range of pharmacological activities and have been used therapeutically for thousands of years. To provide comprehensive guidance, utilization and quality control of species, this review presents updated information concerning the recent application and progress of chemical analysis including phytochemical analysis, sample preparation and chemometrics. Read More

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November 2017
8 Reads
2.420 Impact Factor

Sclerosing angiomatoid nodular transformation of the spleen in a patient with Maffucci syndrome: a case report and review of literature.

Diagn Pathol 2017 Nov 10;12(1):79. Epub 2017 Nov 10.

Department of Gastrointestinal Surgery, The First Affiliated Hospital of Sun Yat-Sen University, 58 Zhongshan Second Road, Guangzhou, 510080, China.

Background: Maffucci syndrome is a congenital, non-hereditary mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. The presence of visceral vascular lesions in this syndrome is exceedingly rare.

Case Presentation: We report a 26-year-old female who was diagnosed with Maffucci syndrome along with sclerosing angiomatoid nodular transformation (SANT) of the spleen. Read More

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November 2017
9 Reads

Anti-inflammatory and Analgesic Effects of L. Extracts.

Front Pharmacol 2017 30;8:562. Epub 2017 Aug 30.

College of Pharmacy, Chengdu University of Traditional Chinese MedicineChengdu, China.

L. (family: Polygonaceae), named Hongcao in China, is a Traditional Chinese Medicinal and has long been used for rheumatic arthralgia and rheumatoid arthritis. However, no pharmacological and mechanism study to confirm these clinic effects have been published. Read More

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August 2017
45 Reads

Mutational analysis using Sanger and next generation sequencing in sporadic spindle cell hemangiomas: A study of 19 cases.

Genes Chromosomes Cancer 2017 12 23;56(12):855-860. Epub 2017 Sep 23.

Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.

Spindle cell hemangioma (SCH) is a distinct vascular soft-tissue lesion characterized by cavernous blood vessels and a spindle cell component mainly occurring in the distal extremities of young adults. The majority of cases harbor heterozygous mutations in IDH1/2 sporadically or rarely in association with Maffucci syndrome. However, based on mosaicism and accordingly a low percentage of lesional cells harboring a mutant allele, detection can be challenging. Read More

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December 2017
21 Reads

Brain and skull base MRI findings in patients with Ollier-Maffucci disease: A series of 12 patient-cases.

Clin Neurol Neurosurg 2017 Sep 18;160:147-151. Epub 2017 Jul 18.

Centre de référence des maladies osseuses constitutionnelles, Hopital Necker Assistance Publique-Hôpitaux de Paris, France et Imagine Institute, INSERM U1163, Paris, France.

Objectives: To estimate the prevalence rate of silent cranial and intracranial lesions in a series of Ollier-Maffucci patients.

Patients And Methods: Cerebral MRI was routinely performed in Ollier-Maffucci patients followed-up in our tertiary centers. Patients with previous history of skull base or intracranial tumors were excluded from the study. Read More

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September 2017
17 Reads

Phosphoinositide 3-Kinase-Dependent Signalling Pathways in Cutaneous Squamous Cell Carcinomas.

Cancers (Basel) 2017 Jul 11;9(7). Epub 2017 Jul 11.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.

Cutaneous squamous cell carcinoma (cSCC) derives from keratinocytes in the epidermis and accounts for 15-20% of all cutaneous malignancies. Although it is usually curable by surgery, 5% of these tumours metastasise leading to poor prognosis mostly because of a lack of therapies and validated biomarkers. As the incidence rate is rising worldwide it has become increasingly important to better understand the mechanisms involved in cSCC development and progression in order to develop therapeutic strategies. Read More

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July 2017
3 Reads

In vivo wound healing and in vitro antioxidant activities of Bletilla striata phenolic extracts.

Biomed Pharmacother 2017 Sep 28;93:451-461. Epub 2017 Jun 28.

Pharmacy College, Chengdu University of Traditional Chinese Medicine, Chengdu 611137, PR China. Electronic address:

Bletilla striata has attracted extensive research interest due to the potential uses for its extracts to treat skin burns and inflammatory disorders in a clinical setting. My current research focuses on Bletilla striata polysaccharides (BSP), and often ignores the residues that remain after polysaccharide extraction. It also remains unclear whether the residues have medical value related its traditional clinic function. Read More

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September 2017
10 Reads

Loggerhead sea turtles (Caretta caretta): A target species for monitoring litter ingested by marine organisms in the Mediterranean Sea.

Environ Pollut 2017 Nov 23;230:199-209. Epub 2017 Jun 23.

Institute for Coastal Marine Environment-National Research Council (IAMC-CNR), loc. Sa Mardini, 09170 Oristano, Italy.

Marine litter is any persistent, manufactured or processed solid material discarded, disposed of or abandoned in the marine and coastal environment. Ingestion of marine litter can have lethal and sub-lethal effects on wildlife that accidentally ingests it, and sea turtles are particularly susceptible to this threat. The European Commission drafted the 2008/56/EC Marine Strategy Framework Directive with the aim to achieve a Good Environmental Status (GES), and the loggerhead sea turtle (Caretta caretta, Linnaeus 1758) was selected for monitoring the amount and composition of litter ingested by marine animals. Read More

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November 2017
5 Reads

Constitutional abnormalities of IDH1 combined with secondary mutations predispose a patient with Maffucci syndrome to acute lymphoblastic leukemia.

Pediatr Blood Cancer 2017 Dec 24;64(12). Epub 2017 May 24.

Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.

Maffucci syndrome is a nonhereditary disorder caused by somatic mosaic isocitrate dehydrogenase 1 or 2 (IDH1 or IDH2) mutations and is characterized by multiple enchondromas along with hemangiomas. Malignant transformation of enchondromas to chondrosarcomas and secondary neoplasms, such as brain tumors or acute myeloid leukemia, are serious complications. A 15-year-old female with Maffucci syndrome developed B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Read More

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December 2017
13 Reads

A tendril perversion in a helical oligomer: trapping and characterizing a mobile screw-sense reversal.

Chem Sci 2017 Apr 25;8(4):3007-3018. Epub 2017 Jan 25.

School of Chemistry , University of Bristol , Cantock's Close , Bristol BS8 1TS , UK . Email:

Helical oligomers of achiral monomers adopt domains of uniform screw sense, which are occasionally interrupted by screw-sense reversals. These rare, elusive, and fast-moving features have eluded detailed characterization. We now describe the structure and habits of a screw-sense reversal trapped within a fragment of a helical oligoamide foldamer of the achiral quaternary amino acid 2-aminoisobutyric acid (Aib). Read More

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April 2017
13 Reads

Molecular phylogeny of Oncaeidae (Copepoda) using nuclear ribosomal internal transcribed spacer (ITS rDNA).

PLoS One 2017 25;12(4):e0175662. Epub 2017 Apr 25.

Department of Integrative Marine Ecology, StazioneZoologica Anton Dohrn, Villa Comunale Naples-Italy.

Copepods belonging to the Oncaeidae family are commonly and abundantly found in marine zooplankton. In the Mediterranean Sea, forty-seven oncaeid species occur, of which eleven in the Gulf of Naples. In this Gulf, several Oncaea species were morphologically analysed and described at the end of the XIX century by W. Read More

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September 2017
1 Read

Pathology and molecular analysis of Hapalotrema mistroides (Digenea: Spirorchiidae) infecting a Mediterranean loggerhead turtle Caretta caretta.

Dis Aquat Organ 2017 Apr;124(2):101-108

Istituto Zooprofilattico Sperimentale del Mezzogiorno, Via Salute n. 2, 80055 Portici, Italy.

Turtle blood flukes belonging to the family Spirorchiidae (Digenea) represent a major threat for sea turtle health and are considered the most important parasitic cause of turtle stranding and mortality worldwide. Despite the large diversity of spirorchiid species found globally, there are only 2 records for free-ranging Mediterranean sea turtles that date back to the late 1800s involving just Hapalotrema mistroides Monticelli, 1896. This study describes the first fatal confirmed case of spirorchiidiasis in a free-ranging Mediterranean loggerhead turtle Caretta caretta (Linnaeus) and, owing to the complexities of taxonomic identification of these parasites, provides the first molecular characterization and phylogenetic analysis of H. Read More

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April 2017
1 Read

The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease).

Taiwan J Obstet Gynecol 2017 Apr;56(2):253-257

Gynecologic Oncology Center, Department of Obstetrics and Gynecology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic. Electronic address:

Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance.

Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Read More

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April 2017
14 Reads

Juvenile granulosa cell tumor associated with Ollier disease.

Indian J Med Paediatr Oncol 2016 Oct-Dec;37(4):293-295

Department of Pediatrics, Division of Pediatric Oncology, Bharati Vidyapeeth Medical College and Hospital, Pune, Maharashtra, India.

Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it is known to be associated with Ollier disease, which is a rare bone disease characterized by multiple enchondromatosis. There is paucity of literature about the co-occurence of these two conditions. Read More

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February 2017
6 Reads

Maffucci syndrome with multiple hand calcifications.

Joint Bone Spine 2017 Oct 25;84(5):621. Epub 2016 Nov 25.

Department of internal medicine, Hospital University Tidjani Damerdji, 13000 Tlemcen, Algeria; Faculty of Medical Sciences, 13000 Tlemcen, Algeria.

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October 2017
4 Reads

Genetics and genomics of ovarian sex cord-stromal tumors.

Clin Genet 2017 02;91(2):285-291

Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, Australia.

Ovarian sex cord-stromal tumors (SCST) represent approximately 8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for approximately 90% of malignant SCST. Recent studies have unraveled the key genomic and genetic events contributing to their pathogenesis. Read More

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February 2017
14 Reads

Esophageal hemangiomatosis with chest CT revealing a fine, curvilinear, calcified thrombus within the esophagus simulating acute esophageal fishbone impaction: first reported endoscopic photograph of GI manifestations in Maffucci syndrome.

Gastrointest Endosc 2017 06 6;85(6):1293-1294. Epub 2016 Oct 6.

Division of Gastroenterology & Hepatology, Department of Internal Medicine, William Beaumont Hospital, Royal Oak, Michigan, USA.

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June 2017
6 Reads

Overgrowth Syndromes.

J Pediatr Genet 2015 Sep 25;4(3):136-43. Epub 2015 Sep 25.

Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States.

Numerous multiple malformation syndromes associated with pathologic overgrowth have been described and, for many, their molecular bases elucidated. This review describes the characteristic features of these overgrowth syndromes, as well as the current understanding of their molecular bases, intellectual outcomes, and cancer predispositions. We review syndromes such as Sotos, Malan, Marshall-Smith, Weaver, Simpson-Golabi-Behmel, Perlman, Bannayan-Riley-Ruvalcaba, PI3K-related, Proteus, Beckwith-Wiedemann, fibrous dysplasia, Klippel-Trenaunay-Weber, and Maffucci. Read More

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September 2015
6 Reads

Genetic basis for vascular anomalies.

Semin Cutan Med Surg 2016 Sep;35(3):128-36

Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome. Read More

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September 2016
19 Reads

Multiple Enchondromas of the Hand in Children: Long-Term Follow-Up of Mean 15.4 Years.

J Pediatr Orthop 2018 Nov/Dec;38(10):543-548

Department of Plastic Surgery.

Background: Multiple enchodromatosis of bone, termed Ollier's disease, or Maffucci syndrome when associated with hemangiomas, is a rare disease that can affect the pediatric hand. This condition often causes a finger mass, deformity, pain and possible pathologic fractures, and has been associated with malignant transformation to chondrosarcoma. The aim of our study is to describe the long-term sequela of multiple enchondromatosis of the hand in the pediatric population, specifically the rates of malignant transformation, tumor recurrence, rates of pathologic fracture, and phalangeal growth arrest. Read More

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September 2016
16 Reads

Biocatalytic Dynamic Kinetic Resolution for the Synthesis of Atropisomeric Biaryl N-Oxide Lewis Base Catalysts.

Angew Chem Int Ed Engl 2016 08 9;55(36):10755-9. Epub 2016 Aug 9.

School of Chemistry, University of Bristol, Cantock's Close, Bristol, BS8 1TS, UK.

Atropisomeric biaryl pyridine and isoquinoline N-oxides were synthesized enantioselectively by dynamic kinetic resolution (DKR) of rapidly racemizing precursors exhibiting free bond rotation. The DKR was achieved by ketoreductase (KRED) catalyzed reduction of an aldehyde to form a configurationally stable atropisomeric alcohol, with the substantial increase in rotational barrier arising from the loss of a bonding interaction between the N-oxide and the aldehyde. Use of different KREDs allowed either the M or P enantiomer to be synthesized in excellent enantiopurity. Read More

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August 2016
7 Reads

Improved Computation of Protein-Protein Relative Binding Energies with the Nwat-MMGBSA Method.

J Chem Inf Model 2016 09 17;56(9):1692-704. Epub 2016 Aug 17.

Dipartimento di Scienze Farmaceutiche - Sezione di Chimica Generale e Organica "Alessandro Marchesini", Università degli Studi di Milano , Via Venezian, 21, 20133 Milano, Italy.

A MMGBSA variant (here referred to as Nwat-MMGBSA), based on the inclusion of a certain number of explicit water molecules (Nwat) during the calculations, has been tested on a set of 20 protein-protein complexes, using the correlation between predicted and experimental binding energy as the evaluation metric. Besides the Nwat parameter, the effect of the force field, the molecular dynamics simulation length, and the implicit solvent model used in the MMGBSA analysis have been also evaluated. We found that considering 30 interfacial water molecules improved the correlation between predicted and experimental binding energies by up to 30%, compared to the standard approach. Read More

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September 2016
1 Read

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency.

Front Immunol 2016 13;7:220. Epub 2016 Jun 13.

Immunology Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. Read More

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July 2016
11 Reads

Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.

Surg Pathol Clin 2016 Jun 11;9(2):269-87. Epub 2016 Apr 11.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases. Read More

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June 2016
4 Reads

A Small Molecule Inhibitor of PDK1/PLCγ1 Interaction Blocks Breast and Melanoma Cancer Cell Invasion.

Sci Rep 2016 05 20;6:26142. Epub 2016 May 20.

Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Blizard Institute, Inositide Signalling Group, London E1 2AT, UK.

Strong evidence suggests that phospholipase Cγ1 (PLCγ1) is a suitable target to counteract tumourigenesis and metastasis dissemination. We recently identified a novel signalling pathway required for PLCγ1 activation which involves formation of a protein complex with 3-phosphoinositide-dependent protein kinase 1 (PDK1). In an effort to define novel strategies to inhibit PLCγ1-dependent signals we tested here whether a newly identified and highly specific PDK1 inhibitor, 2-O-benzyl-myo-inositol 1,3,4,5,6-pentakisphosphate (2-O-Bn-InsP5), could affect PDK1/PLCγ1 interaction and impair PLCγ1-dependent cellular functions in cancer cells. Read More

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May 2016
8 Reads

Hyper IgM Syndrome: a Report from the USIDNET Registry.

J Clin Immunol 2016 07 17;36(5):490-501. Epub 2016 May 17.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Purpose: The United States Immunodeficiency Network (USIDNET) patient registry was used to characterize the presentation, genetics, phenotypes, and treatment of patients with Hyper IgM Syndrome (HIGM).

Methods: The USIDNET Registry was queried for HIGM patient data collected from October 1992 to July 2015. Data fields included demographics, criteria for diagnosis, pedigree analysis, mutations, clinical features, treatment and transplant records, laboratory findings, and mortality. Read More

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July 2016
31 Reads

Seasonal heterogeneity of ocean warming: a mortality sink for ectotherm colonizers.

Sci Rep 2016 Apr 5;6:23983. Epub 2016 Apr 5.

Stazione Zoologica Anton Dohrn, Villa Comunale, 80121, Naples, Italy.

Distribution shifts are a common adaptive response of marine ectotherms to climate change but the pace of redistribution depends on species-specific traits that may promote or hamper expansion to northern habitats. Here we show that recently, the loggerhead turtle (Caretta caretta) has begun to nest steadily beyond the northern edge of the species' range in the Mediterranean basin. This range expansion is associated with a significant warming of spring and summer sea surface temperature (SST) that offers a wider thermal window suitable for nesting. Read More

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April 2016
4 Reads
4 Citations
5.080 Impact Factor

Multiple enchondromas and skin angiomas: Maffucci syndrome.

Lancet 2016 Aug 29;388(10047):905. Epub 2016 Mar 29.

Department of Experimental and Clinical Medicine, Institute of Dermatology, University of Udine, Udine, Italy.

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August 2016
14 Reads

Characteristics of gliomas in patients with somatic IDH mosaicism.

Acta Neuropathol Commun 2016 Mar 31;4:31. Epub 2016 Mar 31.

Hospices Civils de Lyon, Hôpital Neurologique, Service de Neuro-oncologie, 59 Bvd Pinel, 69394, Lyon, Cedex, France.

IDH mutations are found in the majority of adult, diffuse, low-grade and anaplastic gliomas and are also frequently found in cartilaginous tumors. Ollier disease and Maffucci syndrome are two enchondromatosis syndromes characterized by the development of multiple benign cartilaginous tumors due to post-zygotic acquisition of IDH mutations. In addition to skeletal tumors, enchondromatosis patients sometimes develop gliomas. Read More

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March 2016
9 Reads

Novel roles for class II Phosphoinositide 3-Kinase C2β in signalling pathways involved in prostate cancer cell invasion.

Sci Rep 2016 Mar 17;6:23277. Epub 2016 Mar 17.

Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Blizard Institute, Centre for Cell Biology and Cutaneous Research, 4 Newark Street, London E1 2AT, UK.

Phosphoinositide 3-kinases (PI3Ks) regulate several cellular functions such as proliferation, growth, survival and migration. The eight PI3K isoforms are grouped into three classes and the three enzymes belonging to the class II subfamily (PI3K-C2α, β and γ) are the least investigated amongst all PI3Ks. Interest on these isoforms has been recently fuelled by the identification of specific physiological roles for class II PI3Ks and by accumulating evidence indicating their involvement in human diseases. Read More

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March 2016
1 Read