738 results match your criteria Proteus Syndrome


Acute Respiratory Failure in Renal Transplant Recipients: A Single Center Experience.

Exp Clin Transplant 2019 Jan;17(Suppl 1):172-174

From the Pulmonary Medicine, Baskent University, Adana, Turkey.

Objectives: We evaluated the frequency and cause of acute respiratory failure in renal transplant recipients.

Materials And Methods: Our single-center retrospective observational study included consecutive renal transplant recipients who were admitted to an intensive care unit for acute respiratory failure between 2011 and 2017. Acute respiratory failure was defined as oxygen saturation < 92% or partial pressure of oxygen in arterial blood < 60 mm Hg on room air and/or requirement of noninvasive or invasive mechanical ventilation. Read More

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http://www.ectrx.org/forms/ectrxcontentshow.php?doi_id=10.60
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http://dx.doi.org/10.6002/ect.MESOT2018.P49DOI Listing
January 2019
1 Read

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Mol Genet Genomic Med 2019 Feb 13. Epub 2019 Feb 13.

Genetic Diagnostic Laboratory, Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania.

Background: Somatic overgrowth conditions, including Proteus syndrome, Sturge-Weber syndrome, and PIK3CA-related overgrowth spectrum, are caused by post-zygotic pathogenic variants, result in segmental mosaicism, and give rise to neural, cutaneous and/or lipomatous overgrowth. These variants occur in growth-promoting pathways leading to cellular proliferation and expansion of tissues that arise from the affected cellular lineage.

Methods: We report on 80 serial patients evaluated for somatic overgrowth conditions in a diagnostic laboratory setting, including three prenatal patients. Read More

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http://dx.doi.org/10.1002/mgg3.536DOI Listing
February 2019

Selection of anesthesia for lower extremity surgery of patients with Proteus Syndrome.

J Clin Anesth 2018 Dec 29;55:79-82. Epub 2018 Dec 29.

Department of Anesthesiology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, China. Electronic address:

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http://dx.doi.org/10.1016/j.jclinane.2018.12.036DOI Listing
December 2018

Efficacy of Intraoperative Renal Stone Culture in Predicting Postpercutaneous Nephrolithotomy Urosepsis/Systemic Inflammatory Response Syndrome: A Prospective Analytical Study with Review of Literature.

J Endourol 2019 Feb 31;33(2):84-92. Epub 2019 Jan 31.

2 Department of Microbiology, University College of Medical Sciences (University of Delhi) and GTB Hospital, New Delhi, India.

Aim: To evaluate and study the efficacy of intraoperative renal stone culture (IOSC) in predicting postpercutaneous nephrolithotomy (PCNL) urosepsis (PPS) and systemic inflammatory response syndrome (SIRS). PPS is known to occur in patients despite negative preoperative midstream urine culture (MSUC).

Methods: After obtaining institutional ethics committee approval and informed consent, 78 selected patients undergoing PCNL were evaluated as per protocol for risk factors for SIRS criteria with MSUC, intraoperative renal pelvic urine culture (RPUC), and IOSC. Read More

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https://www.liebertpub.com/doi/10.1089/end.2018.0842
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http://dx.doi.org/10.1089/end.2018.0842DOI Listing
February 2019
3 Reads

Laboratory Diagnosis of Bacterial Vaginosis and Potential Pathogens Other Than Group B Streptococcus in Vaginal Swab of Pregnant Women in Dhaka Medical College Hospital.

Mymensingh Med J 2018 Oct;27(4):834-842

Dr Mst Naznin Tarana, Research Student, Department of Microbiology, Dhaka Medical College, Dhaka, Bangladesh; E-mail:

Pathogenic microorganisms are important cause of maternal and neonatal infections which are transmitted from colonized vagina of mother. The purpose of the present study was to detect the potential pathogens other than Group B Streptococcus in vaginal swab of pregnant women. This prospective cross sectional study was conducted from July 2013 to June 2014 at Dhaka Medical College Hospital, Dhaka, Bangladesh. Read More

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October 2018
3 Reads

Antimicrobial susceptibilities of specific syndromes created with organ-specific weighted incidence antibiograms (OSWIA) in patients with intra-abdominal infections.

BMC Infect Dis 2018 Nov 19;18(1):584. Epub 2018 Nov 19.

Department of Hospital Infection Control, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, No. 197 Rui-Jin 2nd Road, Shanghai, 200025, China.

Background: The aim was to evaluate the value of organ-specific weighted incidence antibiogram (OSWIA) percentages for bacterial susceptibilities of Gram-negative bacteria (GNB) collected from intra-abdominal infections (IAIs) during SMART 2010-2014.

Methods: We retrospectively calculated the OSWIA percentages that would have been adequately covered by 12 common antimicrobials based on the bacterial compositions found in the appendix, peritoneum, colon, liver, gall bladder and pancreas.

Results: The ESBL positive rates were 65. Read More

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http://dx.doi.org/10.1186/s12879-018-3494-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245934PMC
November 2018
9 Reads

Miransertib (ARQ 092), an orally-available, selective Akt inhibitor is effective against Leishmania.

PLoS One 2018 6;13(11):e0206920. Epub 2018 Nov 6.

Department of Medicine, Division of Infectious Diseases, University of British Columbia, Vancouver, BC, Canada.

Leishmaniasis is amongst the most important neglected diseases, afflicting more than 12 million people in 88 countries. There is an urgent need for safe orally bioavailable and cost-effective drugs for the treatment of leishmaniasis. It has recently been shown that Leishmania activates host macrophage serine/threonine kinase Akt, to promote survival of both parasites and infected cells. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0206920PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219794PMC
November 2018
9 Reads

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Am J Med Genet A 2018 Dec 22;176(12):2677-2684. Epub 2018 Oct 22.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. We sought to delineate the extent of hepatoportal manifestations in patients with PS. We identified patients with PS who had abdominal imaging from 1989 to 2015 in a natural history study. Read More

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http://dx.doi.org/10.1002/ajmg.a.40636DOI Listing
December 2018
6 Reads

Bifidobacterium adolescentis CGMCC 15058 alleviates liver injury, enhances the intestinal barrier and modifies the gut microbiota in D-galactosamine-treated rats.

Appl Microbiol Biotechnol 2019 Jan 22;103(1):375-393. Epub 2018 Oct 22.

State Key Laboratory for Diagnosis and Treatment of Infectious Diseases, The First Affiliated Hospital, Zhejiang University, Qingchun Road 79, Hangzhou, 31003, People's Republic of China.

Acute liver failure is a drastic, unpredictable clinical syndrome with high mortality. Various preventive and adjuvant therapies based on modulating the gut flora have been proposed for hepatic injury. We aimed to explore the preventive and therapeutic effects of Bifidobacterium adolescentis CGMCC15058 on rat liver failure, as well as the potential microecological and immunological mechanisms of those effects. Read More

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http://dx.doi.org/10.1007/s00253-018-9454-yDOI Listing
January 2019
4 Reads

Indigo- and indirubin-producing strains of Proteus and Psychrobacter are associated with purple rind defect in a surface-ripened cheese.

Food Microbiol 2018 Dec 20;76:543-552. Epub 2018 Jul 20.

Department of Biology, Tufts University, 200 Boston Ave., Medford, MA, 02155, USA; Tufts University Sensory and Science Center, Tufts University, 200 Boston Ave., Medford, MA 02155, USA. Electronic address:

The rinds of surface-ripened cheeses have expected aesthetic properties, including distinct colors, that contribute to overall quality and consumer acceptance. Atypical rind pigments are frequently reported in small-scale cheese production, but the causes of these color defects are largely unknown. We provide a potential microbial explanation for a striking purple rind defect in a surface-ripened cheese. Read More

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http://dx.doi.org/10.1016/j.fm.2018.07.011DOI Listing
December 2018

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet 2018 Aug 10. Epub 2018 Aug 10.

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.08.003DOI Listing
August 2018
27 Reads

[Analysis on clinical characteristics of 13 extremely severe burn patients complicated with severe inhalation injury in August 2nd Kunshan factory aluminum dust explosion accident].

Zhonghua Shao Shang Za Zhi 2018 Jul;34(7):450-454

Department of Intensive Care Unit, the First Affiliated Hospital of Soochow University, Suzhou 215000, China.

To investigate the clinical characteristics of extremely severe burn patients complicated with severe inhalation injury caused by dust explosion. The medical records of 13 extremely severe burn patients complicated with severe inhalation injury in August 2nd Kunshan factory aluminum dust explosion accident, who were admitted to the First Affiliated Hospital of Soochow University on August 2nd, 2014, were retrospectively analyzed. The following indicators were collected: (1) Acute Physiology and Chronic Health Evaluation Ⅱ (APACHE Ⅱ) score and Sequential Organ Failure Assessment (SOFA) score at post admission hour (PAH) 24. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1009-2587.2018.07.006DOI Listing
July 2018
10 Reads

c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.

Clin Case Rep 2018 Jul 2;6(7):1358-1363. Epub 2018 Jun 2.

Department of Molecular Medicine Sapienza University of Rome Rome Italy.

We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with mutation. NGS analysis detected mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis. Read More

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http://dx.doi.org/10.1002/ccr3.1546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028416PMC
July 2018
4 Reads

Case Report: "Incognito" proteus syndrome.

F1000Res 2018 26;7:228. Epub 2018 Feb 26.

Section of Dermatology, Department of Biomedical Sciences and Clinical Oncology, University of Bari, Bari, 70124, Italy.

Proteus syndrome (PS) is a postnatal mosaic overgrowth disorder, progressive and disfiguring. It is clinically diagnosed according to the criteria reported by Biesecker . We describe the case of a 49-year-old woman who presented with a 10-year history of pauci-symptomatic infiltrating plaque lesions on the sole and lateral margin of the left foot, which had been diagnosed as a keloid. Read More

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http://dx.doi.org/10.12688/f1000research.13993.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843845PMC
February 2018

Myths and Misdiagnoses of Proteus Syndrome.

Asian J Anesthesiol 2018 03;56(1):41-41

National Human Genome Research Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.6859/aja.201803_56(1).0006DOI Listing

65 YEARS OF THE DOUBLE HELIX: One gene, many endocrine and metabolic syndromes: -opathies and precision medicine.

Endocr Relat Cancer 2018 08 23;25(8):T121-T140. Epub 2018 May 23.

Genomic Medicine InstituteLerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA

An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways. Read More

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http://dx.doi.org/10.1530/ERC-18-0162DOI Listing

Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.

Am J Med Genet A 2018 05;176(5):1222-1224

Department of Pediatrics, University of Yamanashi, Yamanashi, Japan.

Proteus syndrome (PS) is characterized by the progressive, segmental, or patchy overgrowth of the skin, and other tissues. This is the first case report of recurrent severe insulin-independent hypoglycemia in an infant with PS. Somatic p. Read More

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http://dx.doi.org/10.1002/ajmg.a.38674DOI Listing
May 2018
12 Reads

Patient with Proteus syndrome and paratesticular ovarian-type papillary serous carcinoma.

Pediatr Blood Cancer 2018 Aug 18;65(8):e27099. Epub 2018 Apr 18.

Division of Pediatric Hematology-Oncology, Nemours Children's Specialty Care, Pensacola, Florida.

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http://dx.doi.org/10.1002/pbc.27099DOI Listing
August 2018
2 Reads

[New nosological and therapeutic perspectives in syndromic vascular malformations with a vein-lymphatic component].

Rev Med Interne 2018 Oct 5;39(10):800-804. Epub 2018 Apr 5.

Service de médecine vasculaire, centre de référence des maladies vasculaires rares, hôpital Saint-Éloi, CHRU de Montpellier, 34090 Montpellier, France; Centre de référence des maladies vasculaires rares, CHRU de Montpellier, 34090 Montpellier, France; EA 2992, caractéristiques féminines des dysfonctions des interfaces vasculaires, université de Montpellier et Nîmes, 30908 Nîmes, France; Inserm CIC 1001, centre d'investigation clinique, université de Montpellier et Nîmes, 34295 Montpellier, France.

Vascular malformations are poorly recognized constitutional anomalies which arises during early childhood. Several classifications tried to draw a distinction across the different entities. Recent advances in molecular biology have contributed to the update of their nosology. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.03.008DOI Listing
October 2018
7 Reads

Protean manifestations of Proteus syndrome.

Postgrad Med J 2018 Jul 6;94(1113):416. Epub 2018 Apr 6.

Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

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http://dx.doi.org/10.1136/postgradmedj-2018-135731DOI Listing
July 2018
5 Reads

Prenatal diagnosis of a fetus with Proteus syndrome.

Prenat Diagn 2018 05 15;38(6):467-470. Epub 2018 Apr 15.

Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/pd.5252DOI Listing
May 2018
4 Reads

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Neurogenetics 2018 May 16;19(2):77-91. Epub 2018 Mar 16.

Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Piazza G. Cesare, 11, Bari, Italy.

Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present. Read More

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http://dx.doi.org/10.1007/s10048-018-0540-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5956072PMC
May 2018
4 Reads

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Epileptic Disord 2018 Feb;20(1):30-34

Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.

Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. Read More

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http://dx.doi.org/10.1684/epd.2018.0954DOI Listing
February 2018
2 Reads

Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes.

Am J Med Genet A 2018 Mar 1;176(3):515-550. Epub 2018 Feb 1.

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C. Read More

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http://dx.doi.org/10.1002/ajmg.a.38486DOI Listing
March 2018
10 Reads

Orthopaedic Management of Leg-length Discrepancy in Proteus Syndrome: A Case Series.

J Pediatr Orthop 2018 Mar;38(3):e138-e144

Children's National Health System, NW, Washington, DC.

Introduction: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of growth inhibition hardware with subsequent epiphyseal arrest improves leg-length and angular deformities in pediatric patients without PS. The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in 8 patients with PS and leg-length discrepancy (LLD). Read More

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http://dx.doi.org/10.1097/BPO.0000000000001121DOI Listing
March 2018
8 Reads

Purple Urine Bag Syndrome: A Rare Spot Diagnosis.

Dis Markers 2017 29;2017:9131872. Epub 2017 Nov 29.

Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK.

Purple urine bag syndrome (PUBS) is a complication of urinary tract infections (UTIs) where catheter bags and tubing turn purple. It is alarming for patients, families, and clinicians; however, it is in itself a benign phenomenon. PUBS is the result of UTIs with specific bacteria that produce sulphatases and phosphatases which lead tryptophan metabolism to produce indigo (blue) and indirubin (red) pigments, a mixture of which becomes purple. Read More

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https://www.hindawi.com/journals/dm/2017/9131872/
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http://dx.doi.org/10.1155/2017/9131872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727662PMC
August 2018
21 Reads

Proteus syndrome.

An Bras Dermatol 2017 Sep-Oct;92(5):717-720

Department of Dermatology at Hospital Regional de Presidente Prudente - Universidade do Oeste Paulista (UNOESTE) - Presidente Prudente (SP), Brazil.

Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
Publisher Site
http://dx.doi.org/10.1590/abd1806-4841.20174496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674710PMC
February 2018
12 Reads

Boerhaave's syndrome complicated by a Saccharomyces cerevisiae pleural empyema. Case report and review of the literature.

Acta Clin Belg 2018 Oct 5;73(5):377-381. Epub 2017 Nov 5.

a Department of Intensive Care Medicine , Antwerp University Hospital, University of Antwerp , Edegem (Antwerp) , Belgium.

Objective and Importance Boerhaave's syndrome is a sudden and rare form of oesophageal rupture and is often complicated by local or systemic infection of the mediastinum or pleural cavity. Several micro-organisms are documented as cause of pleural empyema in patients with Boerhaave's syndrome. Intervention (& Technique) We report on a previously healthy 74-year-old male who was admitted at a regional hospital with severe retrosternal and abdominal pain after an episode of vigorous vomiting the morning after ingestion of large quantity of beer. Read More

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http://dx.doi.org/10.1080/17843286.2017.1398439DOI Listing
October 2018
10 Reads

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome.

J Am Acad Dermatol 2018 04 16;78(4):725-732. Epub 2017 Oct 16.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland. Electronic address:

Background: The plantar cerebriform connective tissue nevus (CCTN) is the most common and problematic cutaneous manifestation of Proteus syndrome.

Objective: To gain insights into CCTN pathogenesis and natural history.

Methods: The size and location of plantar CCTN was measured on 152 images from 22 individuals with Proteus syndrome by 2 independent, blinded reviewers. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01909622173254
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http://dx.doi.org/10.1016/j.jaad.2017.10.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857242PMC
April 2018
9 Reads

The importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.

J Clin Ultrasound 2018 Jun 12;46(5):351-354. Epub 2017 Oct 12.

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland.

PIK3CA-related overgrowth spectrum, caused by mosaic mutations in the PIK3CA gene, is associated with regional or generalized asymmetric overgrowth of the body or a body part in addition to other clinical findings. Three-dimensional ultrasonography (3-D US) has the capability to display structural abnormalities in soft tissues or other organs, thereby facilitating identification of segmental overgrowth lesions. We present a case suspected of having a segmental overgrowth disorder based on 3-D US, whose chromosomal microarray result was abnormal, but apparently was not the cause of the majority of the fetus's clinical features. Read More

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http://dx.doi.org/10.1002/jcu.22545DOI Listing
June 2018
19 Reads

Proteus Syndrome With a Cranial Intraosseous Lipoma.

J Craniofac Surg 2017 Nov;28(8):e771-e773

*Division of Plastic and Reconstructive Surgery, Keck School of Medicine at University of Southern California, Los Angeles, CA †Division of Plastic Surgery, New York Presbyterian Hospital-Columbia University Medical Center, New York, NY ‡Division of Neurosurgery, Children's Hospital Los Angeles §Department of Neurological Surgery ||Department of Pathology and Pediatrics, Keck School of Medicine ¶Center for Craniofacial Molecular Biology, University of Southern California #Division of Genomic Medicine, Center for Personalized Medicine **Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA.

Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. Read More

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http://dx.doi.org/10.1097/SCS.0000000000003959DOI Listing
November 2017
15 Reads

Proteus syndrome: Unveiling the anesthetic myths.

Asian J Anesthesiol 2017 03 19;55(1):22-23. Epub 2017 May 19.

All India Institute of Medical Sciences, Department Anaesthesiology, Pain Medicine & Critical Care, 5th floor, Teaching Block, New Delhi 110029, India.

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http://dx.doi.org/10.1016/j.aja.2017.05.005DOI Listing
March 2017
3 Reads

Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.

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

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

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

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http://dx.doi.org/10.1007/s00247-017-3906-xDOI Listing
August 2017
12 Reads

Quantifying survival in patients with Proteus syndrome.

Genet Med 2017 12 29;19(12):1376-1379. Epub 2017 Jun 29.

National Human Genome Research Institute, Bethesda, Maryland, USA.

PurposeProteus syndrome is a rare mosaic overgrowth disorder that is associated with severe complications. While anecdotal data have suggested that the life span of affected patients is reduced, this has not been measured. Mortality data on rare diseases is critical for assessing treatments and other interventions. Read More

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http://dx.doi.org/10.1038/gim.2017.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720922PMC
December 2017
22 Reads

Nasopharyngeal angiofibroma in an adult with Proteus syndrome. First reported case.

Hippokratia 2017 Jul-Sep;21(3):147-149

2 Otolaryngology Department, "Attikon" University Hospital, School of Medicine, National & Kapodistrian University of Athens, Athens, Greece.

Background: Proteus Syndrome (PS) is a rare hamartoneoplastic disorder consisting of a disproportionate and asymmetric overgrowth of body parts, leading to severe body and face disfigurement. Individuals with PS frequently need to undergo a number of surgical procedures including Otolaryngology interventions. Their peculiar anatomy turns even the most straightforward intervention to a challenging one. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247999PMC
November 2018
10 Reads

Characterization of thrombosis in patients with Proteus syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.

Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.38311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592090PMC
September 2017
35 Reads

In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.

PLoS One 2017 5;12(6):e0178905. Epub 2017 Jun 5.

Department of Medicine, Division of Cardiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, United States of America.

Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11), encoding the SH2 domain-containing PTP-2 (SHP2) protein. We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM) by 12 weeks of age. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178905PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459472PMC
September 2017
54 Reads

Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome.

Int J Pediatr Otorhinolaryngol 2017 Apr 14;95:114-116. Epub 2017 Feb 14.

School of Medicine, University of California San Diego, La Jolla, CA, USA; Department of Surgery, Division of Otolaryngology-Head & Neck Surgery, University of California San Diego, San Diego, CA, USA; Department of Otolaryngology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA. Electronic address:

Proteus Syndrome (PS) is a rare congenital overgrowth disease affecting bones, skin, adipose and the central nervous system. The result is asymmetric, disfiguring hypertrophy which can manifest as craniofacial dysmorphia and aerodigestive tract abnormalities. We report the case of obstructive lingual tonsillar hypertrophy resulting in residual sleep disordered breathing after adenotonsillectomy in a child with PS, a previously unrecognized manifestation of the disease. Read More

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http://dx.doi.org/10.1016/j.ijporl.2017.02.015DOI Listing
April 2017
41 Reads

Proteus Syndrome with Neurological Manifestations: A Rare Presentation.

J Pediatr Neurosci 2017 Jan-Mar;12(1):109-111

Department of Pediatrics, Sawai Man Singh Medical College, Jaipur, Rajasthan, India.

Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. Read More

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http://dx.doi.org/10.4103/jpn.JPN_139_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437773PMC
May 2017
6 Reads

De Novo Mutation in a Young Boy with Cutaneous Vasculitis.

Case Rep Pediatr 2017 24;2017:9682803. Epub 2017 Apr 24.

Infection, Inflammation, and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UK.

Phosphatase and tensin homolog (PTEN) is the protein encoded by the gene (10q23.3). mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. Read More

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http://dx.doi.org/10.1155/2017/9682803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421084PMC
April 2017
39 Reads

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.

J Mol Diagn 2017 07 11;19(4):487-497. Epub 2017 May 11.

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

Somatic variants have been well described in tumorigenesis; however, they are only recently appreciated in other human disorders, such as mosaic overgrowth syndromes. Although overgrowth is a manifestation in many genetic syndromes, not all overgrowth syndromes are inherited. Mosaic somatic variants have been lately described in several overgrowth disorders, such as Proteus syndrome, CLOVES (congenital, lipomatous, overgrowth, vascular malformations, epidermal nevi, and spinal/skeletal anomalies and/or scoliosis) syndrome, and megalencephalyepolymicrogyria-polydactyly-hydrocephalus syndrome. Read More

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http://dx.doi.org/10.1016/j.jmoldx.2017.04.001DOI Listing
July 2017
39 Reads

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

J Mol Diagn 2017 07 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

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http://dx.doi.org/10.1016/j.jmoldx.2017.04.006DOI Listing
July 2017
27 Reads

A case controlled study examining the bladder microbiome in women with Overactive Bladder (OAB) and healthy controls.

Eur J Obstet Gynecol Reprod Biol 2017 Jul 23;214:31-35. Epub 2017 Apr 23.

Department of Obstetrics and Gynaecology, Medway Maritime Hospital, Gillingham, Kent, ME7 5NY, UK. Electronic address:

Objective: To characterise the microbiome in healthy women with no bladder symptoms and to compare this to the bladder microbiome in patients with overactive bladder syndrome (OAB).

Study Design: MSU specimens from 63 women with OAB were compared to urine from 35 controls. Urine was centrifuged and the resulting sediment pellet was re-suspended in supernatant and plated under aerobic conditions for 48h and anaerobic conditions for 7days. Read More

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http://dx.doi.org/10.1016/j.ejogrb.2017.04.040DOI Listing
July 2017
4 Reads

Proteus syndrome: A case report and review of the literature.

Mol Clin Oncol 2017 Mar 23;6(3):381-383. Epub 2017 Jan 23.

Clinical Medical Research Center of Shenzhen People's Hospital, The Second Clinical Medical College, Jinan University, Shenzhen, Guangdong 518020, P.R. China.

Proteus syndrome is a rare complex syndrome involving clinical presentation with atypical skeletal growth. Only a limited number of cases with this syndrome have been reported in the literature to date. We herein report the case of a Chinese male patient with Proteus syndrome and review the clinical and molecular characteristics of this disease. Read More

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http://dx.doi.org/10.3892/mco.2017.1140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403503PMC
March 2017
10 Reads

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

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http://dx.doi.org/10.4103/2277-9175.201684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5360000PMC
March 2017
10 Reads

A Rare Case of Diffuse Hemangiomatosis of the Spleen with Splenic Rupture following Aortic Valve Replacement.

Case Rep Radiol 2017 12;2017:9164749. Epub 2017 Jan 12.

Department of Radiology, Section of Cardiovascular Radiology, University Hospital Freiburg, Freiburg, Germany.

In this paper we present a rare case of splenic rupture that occurred after an open aortic valve replacement in a male patient with hemangiomatosis of the spleen and the liver. The patient was treated with an emergency splenectomy. He showed no other sings of associated systemic disorder, such as Klippel-trénaunay syndrome or Proteus syndrome. Read More

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https://www.hindawi.com/journals/crira/2017/9164749/
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http://dx.doi.org/10.1155/2017/9164749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266821PMC
January 2017
3 Reads

Anaesthesia and orphan diseases: Airway management in Proteus disease.

Eur J Anaesthesiol 2017 03;34(3):180-181

From the Department of Anaesthesia, 'Attikon' University Hospital, Athens, Greece.

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http://dx.doi.org/10.1097/EJA.0000000000000574DOI Listing
March 2017
1 Read

Redundant plantar skin folds.

Rom J Morphol Embryol 2016 ;57(3):1085-1088

Department of Rheumatology, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania;

A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Read More

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May 2017
12 Reads
0.660 Impact Factor

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Dermatol Clin 2017 Jan;35(1):51-60

Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:

Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338635163007
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http://dx.doi.org/10.1016/j.det.2016.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130114PMC
January 2017
11 Reads