803 results match your criteria Proteus Syndrome


Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

In Vivo 2021 May-Jun;35(3):1583-1594

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany

Background/aim: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers, an explanation of the very variable phenotype. Read More

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February 2021

Effects of Bovine Colostrum with or without Egg on In Vitro Bacterial-Induced Intestinal Damage with Relevance for SIBO and Infectious Diarrhea.

Nutrients 2021 Mar 22;13(3). Epub 2021 Mar 22.

Centre of Immunobiology, Blizard Institute, Barts and The London School of Medicine, Queen Mary, University of London, London E1 2AT, UK.

Small intestinal bacterial overgrowth (SIBO) occurs commonly, is difficult to treat, and frequently recurs. Bovine colostrum (BC) and chicken eggs contain immunoglobulins and other components that possess antimicrobial, immunoregulatory, and growth factor activities; however, it is not known if they have the ability to reduce injury caused by the presence of bacteria associated with SIBO (, , , , , , and ) and infectious diarrhea (enteropathogenic , ). We examined the effects of BC, egg, or the combination, on bacterial growth and bacteria-induced changes in transepithelial electrical resistance (TEER) and bacterial translocation across confluent Caco-2 monolayers. Read More

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Cardiothoracic imaging findings of Proteus syndrome.

Sci Rep 2021 Mar 22;11(1):6577. Epub 2021 Mar 22.

Cardiovascular and Pulmonary Branch, National Heart Lung and Blood Institute, National Institutes of Health, Building 10, Room B1D416, 10 Center Drive, Bethesda, MD, 20814, USA.

In this work, we sought to delineate the prevalence of cardiothoracic imaging findings of Proteus syndrome in a large cohort at our institution. Of 53 individuals with a confirmed diagnosis of Proteus syndrome at our institution from 10/2001 to 10/2019, 38 individuals (men, n = 23; average age = 24 years) underwent cardiothoracic imaging (routine chest CT, CT pulmonary angiography and/or cardiac MRI). All studies were retrospectively and independently reviewed by two fellowship-trained cardiothoracic readers. Read More

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Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Orphanet J Rare Dis 2021 02 27;16(1):109. Epub 2021 Feb 27.

Dermatology, Children's Health Ireland at Crumlin, Dublin 12, Ireland.

Background: PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequently observed, and approved treatments are lacking. Miransertib (ARQ 092) is a novel, orally available, selective pan-AKT inhibitor with proven in vitro efficacy. Read More

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February 2021

Corrigendum: Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Front Pediatr 2020 23;8:624141. Epub 2020 Dec 23.

Department of Molecular Genetics, Baylor College of Medicine, Houston, TX, United States.

[This corrects the article DOI: 10.3389/fped.2020. Read More

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December 2020

Proteus syndrome caused by novel somatic AKT1 duplication.

Saudi Med J 2021 Jan;42(1):95-99

Department of Pediatrics, Division of Medical Genetic, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.

Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impact through its effects on somatic tissue. Read More

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January 2021

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.

Front Pediatr 2020 17;8:613260. Epub 2020 Dec 17.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Lateralized overgrowth (LO), or segmental overgrowth, is defined as an increase in growth of tissue (bone, muscle, connective tissue, vasculature, etc.) in any region of the body. Some overgrowth syndromes, characterized by both generalized and lateralized overgrowth, have been associated with an increased risk of tumor development. Read More

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December 2020

Genes and phenotypes in vascular malformations.

Authors:
P H Hoeger

Clin Exp Dermatol 2021 Apr 25;46(3):495-502. Epub 2020 Dec 25.

Department of Paediatric Dermatology, Catholic Children's Hospital Wilhelmstift, Hamburg, Germany.

Vascular malformations (VMs) are caused by localized defects of vascular development. Most VMs are due to sporadic, postzygotic mutations, while some are the result of autosomal dominant germline mutations. Genotype-phenotype correlation is influenced by many factors. Read More

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Giant Cell Tumor of Tendon Sheath Developed over Chimeric-Free Latissimus Dorsi and Serratus Anterior Muscle Flaps.

J Hand Microsurg 2020 Oct 25;12(Suppl 1):S50-S53. Epub 2019 Feb 25.

Department of Plastic Surgery, Microsurgery, Burns Unit and Reference Centre for Melanoma, General Hospital of Athens "G. Gennimatas," Athens, Greece.

This article describes a rare case of giant cell tumor of the tendon sheath (GCTTS) that was developed over the substance of chimeric-free latissimus dorsi and -serratus -anterior muscle flaps performed for lower limb reconstruction. To our knowledge, development of GCTTS over a free flap is first described in the literature. A 71-year-old -woman was presented with a large protuberant ulcerated tumor mass that was developed over the substance of chimeric free muscle flaps at the foot and ankle. Read More

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October 2020

Facklamia hominis bacteremia after transurethral resection of the prostate: a case report.

BMC Urol 2020 Dec 7;20(1):192. Epub 2020 Dec 7.

Department of General, Visceral and Thoracic Surgery, Bürgerspital Solothurn, Schöngrünstrasse 42, 4500, Solothurn, Switzerland.

Background: Transurethral resection of the prostate (TUR-P) is one of the most frequent routine procedures in urology. Because of the semisterile environment, postoperative infections, including sepsis, are a common complication, with Escherichia coli, Klebsiella spp., Proteus mirabilis or Enterococcus faecalis as frequently isolated pathogens. Read More

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December 2020

Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Front Pediatr 2020 30;8:574857. Epub 2020 Oct 30.

Department of Molecular Genetics, Baylor College of Medicine, Houston, TX, United States.

Abnormally excessive growth results from perturbation of a complex interplay of genetic, epigenetic, and hormonal factors that orchestrate human growth. Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of tumor predisposition that necessitate prompt diagnosis and appropriate referral. In this review, we introduce some of the more common overgrowth syndromes, along with their molecular mechanisms, diagnostics, and medical complications for improved recognition and management of patients affected with these disorders. Read More

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October 2020

A review on age-related cancer risks in PTEN hamartoma tumor syndrome.

Clin Genet 2021 Feb 16;99(2):219-225. Epub 2020 Nov 16.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

Patients with PTEN hamartoma tumor syndrome (PHTS, comprising Cowden, Bannayan-Riley-Ruvalcaba, and Proteus-like syndromes) are at increased risk of developing cancer due to pathogenic PTEN germline variants. This review summarizes age-, sex-, and type-specific malignant cancer risks for PHTS patients, which is urgently needed for clinical management. A PubMed literature search for Standardized Incidence Ratios or Cumulative Lifetime cancer risks (CLTRs) resulted in nine cohort studies comprising four independent PHTS cohorts, including mainly index cases and prevalent cancer cases. Read More

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February 2021

The Effect of TLR4 Blockade on Some Indicators of Systemic Inflammatory Response to Proteus mirabilis LPS in Rats.

Bull Exp Biol Med 2020 Oct 24;169(6):795-797. Epub 2020 Oct 24.

A. A. Smorodintsev Research Institute of Influenza, Ministry of Health of the Russian Federation, St. Petersburg, Russia.

The effects of TLR4 blocker on blood cell morphology, concentrations proinflammatory cytokines, and functional state of the liver and kidneys were studied in outbred male rats (n=60) after intravenous injection of 20 mg/kg LPS isolated from opportunistic Proteus mirabilis strain ATCC 51393. TLR4 blocker TLR4-IN-C34 was injected intravenously in a dose of 1 mg/kg/day over 3 days. Systemic inflammatory reaction induced by LPS was characterized by elevation of serum TNFα, IL-1β, IL-6, erythrocyte sedimentation rate, leukocytosis, and thrombocytosis. Read More

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October 2020

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.

Orphanet J Rare Dis 2020 10 14;15(1):288. Epub 2020 Oct 14.

Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, China.

Background: Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. Read More

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October 2020

Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.

Hum Mol Genet 2020 Dec;29(20):3350-3360

Molecular Genomics and Metabolic Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.

Proteus syndrome is a progressive overgrowth disorder with vascular malformations caused by mosaic expression of the AKT1 c.49G > A, p.(E17K) activating variant which was predicted to cause lethality if expressed ubiquitously. Read More

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December 2020

Acne following Blaschko's lines in Proteus syndrome.

JAAD Case Rep 2020 Oct 20;6(10):1072-1074. Epub 2020 Aug 20.

Department of Dermatology, Uniformed Services University, Bethesda, Maryland.

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October 2020

High incidence and characteristic of PRRSV and resistant bacterial Co-Infection in pig farms.

Microb Pathog 2020 Dec 24;149:104536. Epub 2020 Sep 24.

Department of Pathogenic Biology, School of Basic Medicine, Southwest Medical University, Luzhou, Sichuan, China. Electronic address:

Porcine Reproductive and Respiratory Syndrome Virus (PRRSV) and resistant bacterial co-infection is a serious threat to pig farms. This study was aimed to determine the characteristics of the co-infection of PRRSV with resistant bacterial strains in pig farms. The presence of the PRRSV orf5 gene was confirmed by RT-PCR from 395 samples. Read More

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December 2020

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Birth Defects Res 2020 11 15;112(19):1733-1737. Epub 2020 Sep 15.

Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Proteus syndrome is a mosaic genetic overgrowth disorder caused by a postzygotic, mosaic activating mutation in AKT1. Rare prenatal presentations include segmental tissue overgrowth, and skeletal and CNS anomalies. We present the first report of prenatally diagnosed and molecularly confirmed Proteus syndrome. Read More

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November 2020

[Use of Virtual Reality as a Component of Acute and Chronic Pain Treatment].

Anasthesiol Intensivmed Notfallmed Schmerzther 2020 Sep 11;55(9):549-561. Epub 2020 Sep 11.

Future or reality? Treating acute and chronic pain is a part of the daily routine of clinical anesthesiologists. Commonly used analgesics have unwanted side effects or may even be insufficient as in chronic pain treatment. Virtual Reality (VR) could be a promising new approach which offers noninvasive therapy options for the treatment of pain. Read More

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September 2020

A Quantitative Proteome Map of the Human Body.

Cell 2020 10 10;183(1):269-283.e19. Epub 2020 Sep 10.

Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address:

Determining protein levels in each tissue and how they compare with RNA levels is important for understanding human biology and disease as well as regulatory processes that control protein levels. We quantified the relative protein levels from over 12,000 genes across 32 normal human tissues. Tissue-specific or tissue-enriched proteins were identified and compared to transcriptome data. Read More

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October 2020

Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.

Am J Med Genet A 2020 12 10;182(12):2829-2831. Epub 2020 Sep 10.

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

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December 2020

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

Authors:
Min He Weijia Zhao

Exp Ther Med 2020 Sep 10;20(3):2716-2720. Epub 2020 Jul 10.

Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China.

Proteus syndrome (PS) is an extremely rare and sporadic disorder characterized by asymmetric and/or disproportionate overgrowth of limbs, hamartomas, and vascular malformations. The onset of overgrowth usually involves the skin, bone, fat, and other connective tissues in a patchy or mosaic pattern. Partial gigantism of the affected limb or digit is a pathognomonic sign of PS. Read More

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September 2020

Identification of enterobacteria in viscera of pigs afflicted with porcine reproductive and respiratory syndrome and other viral co-infections.

Microb Pathog 2020 Oct 11;147:104385. Epub 2020 Jul 11.

Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, Jiangxi, 330045, China. Electronic address:

In order to investigate enterobacteria presence involved in the secondary infections in Porcine Reproductive and Respiratory Syndrome (PRRS) pigs with different viral co-infections, we identified enterobacteria for guiding clinical treatment. Twenty-one diseased pigs were diagnosed with the PRRS virus (PRRSV) and other 7 virus primers by PCR/RT-PCR in the lung and spleen samples. Enterobacteria were isolated using MacConkey agar from 5 visceral samples of PRRS pigs, and identified by 16S rDNA sequencing. Read More

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October 2020

Acute pyelonephritis during pregnancy: a systematic review of the aetiology, timing, and reported adverse perinatal risks during pregnancy.

J Obstet Gynaecol 2020 Aug 5;40(6):739-748. Epub 2019 Sep 5.

Department of Obstetrics and Gynecology, University of South Alabama, Mobile, Canada.

We performed a comprehensive systematic review of acute pyelonephritis in pregnancy using PubMed, SCOPUS, ClinicalTrials.gov, and Ovid from inception to April 2018. About 7796 references were screened for inclusion, and 52 references from 1908 to 2017 were included. Read More

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Efficacy of Acacia nilotica aqueous extract in treating biofilm-forming and multidrug resistant uropathogens isolated from patients with UTI syndrome.

Sci Rep 2020 07 7;10(1):11125. Epub 2020 Jul 7.

Department of Botany and Microbiology, Faculty of Science, South Valley University, Qena, 83523, Egypt.

Escherichia coli is the dominant bacterial cause of UTI among the uropathogens in both developed and developing countries. This study is to investigate the effect of Acacia nilotica aqueous extract on the survival and biofilm of isolated pathogens to reduce UTIs diseases. A total of 170 urine samples were collected from Luxor general hospital and private medical analysis laboratories in Luxor providence, Egypt. Read More

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Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.

Doc Ophthalmol 2021 Feb 2;142(1):119-126. Epub 2020 Jul 2.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.

Purpose: Proteus syndrome arises as a result of a post-zygotic mosaic activating mutation in the AKT1 oncogene, causing a disproportionate overgrowth of affected tissues. A small number of ocular complications have been reported. We present the unique findings in a patient who had molecular confirmation of AKT1 mosaicism alongside fulfilling the clinical criteria for Proteus syndrome. Read More

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February 2021

Proteus Syndrome, a rare case with an unusual presentation: Case report.

Int J Surg Case Rep 2020 13;72:339-342. Epub 2020 Jun 13.

King Fahad Hospital of the University, Imam Abdulrahman Bin Faisal University, Saudi Arabia.

Introduction: Proteus Syndrome is a very rare syndrome, where only 200 cases has been reported so far.

Presentation Of Case: We were presented with a 45 year male with features of chronic Intestinal Obstruction. On Examination he had a giant right middle finger (Fig. Read More

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[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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