770 results match your criteria Proteus Syndrome


[Proteus syndrome in the practice of an otorhinolaryngologist: a clinical case].

Vestn Otorinolaringol 2020 ;85(2):45-48

Russian Medical Academy for Continuing Professional Education of the Ministry of Health of Russia, Department of Otorhinolaryngology, Moscow, Russia.

Described a rare clinical observation of a patient aged 18 years with chronic left-sided otitis media against Proteus syndrome. By this age, the patient underwent a large number of operations regarding the removal of lymphangiomas, hemlimfangiomas, angiokeratitis of the body, as well as several sanitizing surgery on the left ear. A review of domestic and foreign literature showed that this case can be considered unique. Read More

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http://dx.doi.org/10.17116/otorino20208502145DOI Listing
January 2020

[Prostatic secretion microbiota: a comparative analysis of the hronical prostatitis II and IIIA category].

Urologiia 2020 Apr(2):16-22

Department of Urology and Human Reproductive Health, Rostov State Medical University, Rostov-on-Don, Russia.

Background: Chronic bacterial prostatitis (CBP) and chronic prostatitis/chronic pelvic pain syndrome IIIa (CP/CPPS IIIa) are separate nosologies defined diagnostic verification criteria according to the NIH-NIDDK classification (1995). The identification of enterobacteria in the prostatic secretion (PS) has long been a criterion for the diagnosis of CBP, while PS in patients suffering CP/CPPS IIIa was considered as "sterile". However, the introduction of various methods of PS`s in-depth analysis and UPOINTS classification (2010) development with the allocation of site I (infection) allows us to consider the infectious factor as an etiological predictor of the initiation of inflammation in the prostate with CP/CPPS IIIa. Read More

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Allelic heterogeneity of Proteus syndrome.

Cold Spring Harb Mol Case Stud 2020 Apr 23. Epub 2020 Apr 23.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA;

Proteus syndrome is mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G>A p. Read More

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http://dx.doi.org/10.1101/mcs.a005181DOI Listing

Scoliosis Associated with Proteus Syndrome: Report of 2 Cases and Review of the Literature.

World Neurosurg 2020 Mar 17;138:274-283. Epub 2020 Mar 17.

Children's Orthopedic Surgery Department, Spinal Unit, Hospital Universitario Niño Jesús, Madrid, Spain.

Background: Proteus syndrome (PS) is a complex genetic disorder, characterized by the sporadic appearance of hamartomatous lesions that follow a mosaic pattern and have a progressive evolution. It affects most of the mesodermal origin tissues, including the bones. Scoliosis is a common manifestation, with great variability and specific peculiarities, but little about it has been published. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.03.054DOI Listing

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.

J Am Acad Dermatol 2020 Feb 7. Epub 2020 Feb 7.

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

Background: Proteus syndrome is an overgrowth disorder caused by a mosaic activating AKT1 variant. Hair abnormalities in Proteus syndrome have rarely been reported, and frequencies of such findings have not been elucidated.

Objective: To define the types and frequencies of hair findings in individuals with Proteus syndrome. Read More

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http://dx.doi.org/10.1016/j.jaad.2020.01.078DOI Listing
February 2020

Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

Arqule Inc, Burlington, Massachusetts 01803, USA.

A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the c.49G > A p.(E17K) variant had asymmetric overgrowth of the right frontal and facial bones, asymmetric spinal overgrowth with thoracolumbar scoliosis, dilatation of the inferior vena cava, testicular cystadenoma, bilateral knee deformities, macrodactyly, and apparent intellectual disability. Read More

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http://dx.doi.org/10.1101/mcs.a004549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996520PMC
February 2020

A case report of Proteus syndrome (PS).

BMC Med Genet 2020 01 21;21(1):15. Epub 2020 Jan 21.

Department of Endocrinology, ShenZhen Hospital, Southern Medical University, No. 1333, Xinhu Road, Shenzhen, 518100, Guangdong, China.

Background: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

Case Presentation: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. Read More

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http://dx.doi.org/10.1186/s12881-020-0949-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975093PMC
January 2020

Inhibition of urease activity in the urinary tract pathogens Staphylococcus saprophyticus and Proteus mirabilis by dimethylsulfoxide (DMSO).

Authors:
Charles E Deutch

J Appl Microbiol 2020 May 2;128(5):1514-1523. Epub 2020 Jan 2.

Microbion Research, Peoria, AZ, USA.

Aims: Urease is a virulence factor for the urinary tract pathogens Staphylococcus saprophyticus and Proteus mirabilis. Dimethylsulfoxide (DMSO) is structurally similar to urea, used as a solvent for urease inhibitors, and an effective treatment for interstitial cystitis/bladder pain syndrome (IC/BPS). The aims of this study were to test DMSO as a urease inhibitor and determine its physiological effects on S. Read More

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http://dx.doi.org/10.1111/jam.14560DOI Listing

Supraglottic Mass Management in a Pediatric Patient with Proteus Syndrome.

Anesthesiology 2020 Apr;132(4):895

From the Children's Hospital Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1097/ALN.0000000000003058DOI Listing

Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report.

Oral Radiol 2019 Nov 16. Epub 2019 Nov 16.

Department of Stomatology, Public Oral Health, and Forensic Dentistry, Ribeirão Preto Dental School, University of São Paulo, Café Avenue, Ribeirão Preto, SP, 14040-904, Brazil.

Objectives: Proteus syndrome (PS) is an extremely rare disorder with asymmetric and disproportionate bone overgrowth. Craniofacial abnormalities in PS are less frequent than skeletal abnormalities. Although there are recognized oral and maxillofacial manifestations of PS, few case reports describing these manifestations are available. Read More

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http://dx.doi.org/10.1007/s11282-019-00416-yDOI Listing
November 2019
0.152 Impact Factor

[Purple Urine Bag Syndrome: A Rare Clinical Case].

Mikrobiyol Bul 2019 Oct;53(4):457-463

Health Science University, Ankara Training and Research Hospital, Department of Medical Microbiology, Ankara, Turkey.

Purple urine bag syndrome (PUBS) is a rare syndrome characterized by production of indigo (blue) and indirubin (red) pigments due to bacterial colonization in urinary catheter. The pathogenesis of PUBS is related to the combination of these two pigments produced from the metabolism of tryptophan. Tryptophan turns into indole by deamination, indole turns into indoxyl sulphate by hepatic conjugation and indoxyl sulphate is secreted into urine. Read More

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http://dx.doi.org/10.5578/mb.68616DOI Listing
October 2019

Vascular malformations syndromes: an update.

Curr Opin Pediatr 2019 12;31(6):747-753

Dermatology Unit, Hospital Universitario Virgen de las Nieves.

Purpose Of Review: To provide an update of vascular malformation syndromes by reviewing the most recent articles on the topic and following the new International Society for the Study of Vascular Anomalies (ISSVA) 2018 classification.

Recent Findings: This review discusses the main features and diagnostic approaches of the vascular malformation syndromes, the new genetic findings and the new therapeutic strategies developed in recent months.

Summary: Some vascular malformations can be associated with other anomalies, such as tissue overgrowth. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000812DOI Listing
December 2019

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):565-570. Epub 2019 Nov 6.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p. Read More

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http://dx.doi.org/10.1002/ajmg.c.31744DOI Listing
December 2019

Toward Systems Pathology for PTEN Diagnostics.

Cold Spring Harb Perspect Med 2020 May 1;10(5). Epub 2020 May 1.

School of Life Sciences, University of Technology Sydney, Ultimo, New South Wales 2007, Australia.

Germline alterations of the tumor suppressor PTEN have been extensively characterized in patients with PTEN hamartoma tumor syndromes, encompassing subsets of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes, as well as autism spectrum disorder. Studies have shown an increase in the risk of developing specific cancer types in the presence of a germline mutation. Furthermore, outside of the familial setting, somatic variants of occur in numerous malignancies. Read More

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http://dx.doi.org/10.1101/cshperspect.a037127DOI Listing
May 2020
1 Read

Purple urine bag syndrome: case report.

Einstein (Sao Paulo) 2020 23;18:eRC5063. Epub 2019 Sep 23.

Santa Casa de Misericórdia de Vitória, Vitória, ES, Brazil.

A 65-year-old male with a history of urinary tract trauma requiring cystotomy and chronic bladder catheterization, presenting with chronic and uninvestigated changes in the color of the urine bag system, with no urine color change, and positive urine culture for Proteus mirabilis . These characteristics refer to the purple urine bag syndrome, a not weel-known condition, with a benign course in most cases, and associated with urinary tract infection in patients with chronic bladder catheterization. Although it is characterized by marked changes, it is underdiagnosed by healthcare professionals. Read More

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http://dx.doi.org/10.31744/einstein_journal/2020RC5063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905158PMC
October 2019
3 Reads

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):571-581. Epub 2019 Sep 6.

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

Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel-Trenaunay syndrome and CLOVES syndrome. PS and PROS have distinct, yet overlapping clinical findings and are caused by somatic pathogenic variants in the PI3K/AKT gene signaling pathway. PS is caused by a single somatic activating AKT1 c. Read More

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http://dx.doi.org/10.1002/ajmg.c.31735DOI Listing
December 2019
3 Reads

A unique fatal case of Waterhouse-Friderichsen syndrome caused by Proteus mirabilis in an immunocompetent subject: Case report and literature analysis.

Medicine (Baltimore) 2019 Aug;98(34):e16664

Legal Medicine Centre of INAIL,Enna, Italy.

Introduction: The Waterhouse-Friderichsen syndrome (WFS), also known as purpura fulminans, is a potentially lethal condition described as acute hemorrhagic necrosis of the adrenal glands. It is often caused by infection. Classically, Neisseriae meningitidis represents the main microorganism related to WFS, although, infrequently, also other infectious agents are reported as a possible etiologic agent. Read More

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http://dx.doi.org/10.1097/MD.0000000000016664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716737PMC
August 2019
3 Reads

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

Cold Spring Harb Mol Case Stud 2019 08 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

The clinical diagnostic criteria for Proteus syndrome were defined before the discovery of the c.49G>A; p.(Glu17Lys) causal variant and used a combination of general and specific phenotypic attributes that could be combined to make a clinical diagnosis. Read More

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http://dx.doi.org/10.1101/mcs.a004036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672027PMC
August 2019
5 Reads

Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features - An Uncommon Phenotype?

Indian Dermatol Online J 2019 Jul-Aug;10(4):447-452

Department of Dermatology, Venereology and Leprosy, Dr. R. P. Govt. Medical College, Kangra, (Tanda), Himachal Pradesh, India.

CLOVES syndrome characterized by ongenital ipomatous vergrowth, ascular malformations, pidermal nevi, and keletal anomalies is a recently described sporadic syndrome from postzygotic activating mutations in . This 3-year-old boy, born to nonconsanguineous and healthy parents, had epidermal verrucous nevus, lower limb length discrepancy and bilateral genuvalgum, anterior abdominal wall lipomatous mass, central beaking of L2 and L3, and fibrous dysplasia of the left frontal bone. Ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly were peculiar to him denoting an uncommon phenotype. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_418_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615369PMC
July 2019
4 Reads

[A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].

Zhonghua Nei Ke Za Zhi 2019 Jul;58(7):508-513

Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.07.005DOI Listing
July 2019
4 Reads

A mouse model of Proteus syndrome.

Hum Mol Genet 2019 09;28(17):2920-2936

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. Read More

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http://dx.doi.org/10.1093/hmg/ddz116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736390PMC
September 2019
7 Reads

[Syndromes with vascular skin anomalies].

Authors:
Rudolf Happle

Hautarzt 2019 Jul;70(7):474-480

Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland.

Background: In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.

Objective: To render dermatologists in practice capable of recognizing and classifying such cutaneous markers.

Material And Methods: On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication. Read More

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http://dx.doi.org/10.1007/s00105-019-4418-4DOI Listing
July 2019
10 Reads

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Am J Med Genet A 2019 07 6;179(7):1319-1324. Epub 2019 May 6.

Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Proteus syndrome (PS) is an ultra-rare disease characterized by progressive, disproportionate, segmental overgrowth caused by a somatic gain-of-function mutation p.Glu17Lys in the oncogene AKT1. The disease has high morbidity and mortality rates due to the increased risk for patients to develop cancer and progressive overgrowth. Read More

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http://dx.doi.org/10.1002/ajmg.a.61160DOI Listing
July 2019
12 Reads
2.159 Impact Factor

Piriformis pyomyositis, a cause of piriformis syndrome-a systematic search and review.

Clin Rheumatol 2019 Jul 2;38(7):1811-1821. Epub 2019 May 2.

Department of Rheumatology, Faculty of Behavioral Science, University of Twente, Enschede, Netherlands.

Piriformis pyomyositis is a rare form of purulent skeletal myositis. As previous studies concerning piriformis pyomyositis had lower level of evidence and no systematic review has been published yet, we performed a systematic search to review and describe causes, symptoms, red flags, and available treatment options for piriformis pyomyositis. Using PubMed and PubMed Central databases, we found 21 articles describing 23 cases of piriformis pyomyositis. Read More

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http://dx.doi.org/10.1007/s10067-019-04552-yDOI Listing
July 2019
12 Reads

Purple urine bag syndrome.

Tidsskr Nor Laegeforen 2019 Mar 25;139(6). Epub 2019 Mar 25.

Background: Purple urine bag syndrome (PUBS) can occur in cases of bacteriuria with species expressing enzymes capable of converting tryptophan metabolites to red and blue pigments which are excreted in urine, leaving a characteristic purple colour. Risk factors include urinary catheterisation, constipation and chronic kidney disease. Treatment includes catheter replacement, and antibiotics in case of urinary tract infection. Read More

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http://dx.doi.org/10.4045/tidsskr.18.0677DOI Listing
March 2019
5 Reads

What's New in Genetic Skin Diseases.

Dermatol Clin 2019 Apr;37(2):229-239

Department of Dermatology, University of Alabama at Birmingham, 1940 Elmer J. Bissell Road, Birmingham, AL 35243, USA. Electronic address:

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care. Read More

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http://dx.doi.org/10.1016/j.det.2018.11.004DOI Listing
April 2019
19 Reads

Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies.

Radiographics 2019 Mar-Apr;39(2):491-515

From the Divisions of Pediatric Radiology (F.B., K.A.B., C.M.H., A.E.G., S.S.M.) and Interventional Radiology and Image Guided Medicine (F.B., C.M.H., A.E.G.), Department of Radiology and Imaging Sciences; and Department of Hematology and Medical Oncology (M.A.B.), Emory University School of Medicine, 1364 Clifton Rd NE, Suite D112, Atlanta, GA 30322; and Vascular Anomalies Clinic (F.B., K.A.B., C.M.H., A.E.G., M.A.B., R.S., S.S.M.) and Aflac Cancer and Blood Disorders Center (M.A.B.), Children's Healthcare of Atlanta, Atlanta, Ga.

Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. Radiologists who are aware of congenital limb length discrepancies can make specific diagnoses based on imaging findings. Read More

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http://dx.doi.org/10.1148/rg.2019180136DOI Listing
March 2020
37 Reads
2.602 Impact Factor

Defining a clinically significant struvite stone: a non-randomized retrospective study.

Int Urol Nephrol 2019 Apr 4;51(4):585-591. Epub 2019 Mar 4.

Department of Urology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Objective: To study the association between a stone's struvite content and clinical outcomes and to determine a clinically significant cutoff for defining struvite stones.

Materials And Methods: This was a retrospective study of all patients who underwent ureteroscopy or PCNL at our institution between 2012 and 2017 and had any component of struvite in the stone analysis. Patients were divided into four groups based on percent struvite content: A (1-25%), B (26-50%), C (51-75%), and D (76-100%). Read More

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http://dx.doi.org/10.1007/s11255-019-02117-1DOI Listing
April 2019
13 Reads

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.

Am J Hum Genet 2019 03 22;104(3):484-491. Epub 2019 Feb 22.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for Proteus syndrome. Miransertib is an AKT1 inhibitor that, prior to this study, has been evaluated only in adult oncology trials. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.01.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407523PMC
March 2019
7 Reads

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

Exp Clin Transplant 2019 01;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
Publisher Site
http://dx.doi.org/10.6002/ect.MESOT2018.P49DOI Listing
January 2019
27 Reads

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

Mol Genet Genomic Med 2019 03 13;7(3):e536. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418364PMC
March 2019
16 Reads

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

J Clin Anesth 2019 08 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
August 2019
4 Reads

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 02 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
Publisher Site
http://dx.doi.org/10.1089/end.2018.0842DOI Listing
February 2019
11 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
8 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
35 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
April 2019
25 Reads

Septic superficial thrombophlebitis in Klippel-Trenaunay syndrome.

Acta Chir Belg 2019 Apr 2;119(2):137-138. Epub 2018 Nov 2.

a Department of Vascular Surgery , KAT General Hospital , Athens , Greece.

This is a rare case of a young patient with Klippel-Trenaunay syndrome that presented with extensive septic superficial thrombophlebitis of the lower extremity. Treatment included intravenous antibiotics based on cultures, anticoagulant therapy as well as surgical removal of thrombi. Read More

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http://dx.doi.org/10.1080/00015458.2018.1534394DOI Listing
April 2019
12 Reads

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

Am J Med Genet A 2018 12 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
17 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
13 Reads

Soft-tissue vascular malformations and tumors. Part 2: low-flow lesions.

Radiologia 2019 Mar - Apr;61(2):124-133. 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. Due to a lack of a complete understanding of the origin and histopathology of such lesions, this field has been traditionally obscured by the use of an unclear nomenclature. Knowledge of the classification and clinical and imaging characteristics of this group of lesions is paramount when managing these patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00338338183014
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http://dx.doi.org/10.1016/j.rx.2018.02.012DOI Listing
November 2019
35 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
4 Reads

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet 2019 Apr 10;62(4):270-272. 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
April 2019
63 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
33 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
10 Reads

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

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http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
16 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
5 Reads

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
March 2018
5 Reads

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
August 2018
6 Reads