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proteus syndrome

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https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#1
Angela Mauro, Ebun Omoyinmi, Neil James Sebire, Angela Barnicoat, Paul Brogan
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN 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. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28502730/overgrowth-syndromes-caused-by-somatic-variants-in-the-phosphatidylinositol-3-kinase-akt-mammalian-target-of-rapamycin-pathway
#2
REVIEW
Gozde Akgumus, Fengqi Chang, Marilyn M Li
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, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and megalencephaly-capillary malformation-polymicrogyria syndrome...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502725/molecular-diagnosis-of-mosaic-overgrowth-syndromes-using-a-custom-designed-next-generation-sequencing-panel
#3
Fengqi Chang, Liu Liu, Erica Fang, Guangcheng Zhang, Tiansheng Chen, Kajia Cao, Yanchun Li, Marilyn M Li
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 the genes involved in the phosphatidylinositol 3-kinase/AKT/mechanistic target of rapamycin pathway. Because of the low-abundance nature of these pathogenic variants, Sanger sequencing often yields negative results...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28463826/a-case-controlled-study-examining-the-bladder-microbiome-in-women-with-overactive-bladder-oab-and-healthy-controls
#4
Natasha Curtiss, Aswini Balachandran, Louise Krska, Claire Peppiatt-Wildman, Scott Wildman, Jonathan Duckett
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. Each morphologically distinct colony was purity plated...
April 23, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28451417/proteus-syndrome-a-case-report-and-review-of-the-literature
#5
Minglin Ou, Zhaojun Sun, Peng Zhu, Guoping Sun, Yong Dai
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. The patient was a 34-year-old man with clinical manifestations suggestive of the Proteus syndrome, including mosaic distribution of the lesions, sporadic occurrence, progressive course, disproportionate overgrowth of the legs, epidermal nevi, lipomas, venous malformations and characteristic facial phenotype...
March 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#6
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
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. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28168078/a-rare-case-of-diffuse-hemangiomatosis-of-the-spleen-with-splenic-rupture-following-aortic-valve-replacement
#7
F Capilli, M Weinbeck, M Czerny, M Siepe, T Krauss
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.
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/28002528/redundant-plantar-skin-folds
#8
Laura Otilia Damian, Siao Pin Simon, Ioana Felea, Carolina Botar-Jid, Bogdan Stancu, Liliana Rogojan, Cristina Ana Maria Pamfil, Adriana Albu, Simona Rednic
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...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27890237/mosaic-disorders-of-the-pi3k-pten-akt-tsc-mtorc1-signaling-pathway
#9
REVIEW
Neera Nathan, Kim M Keppler-Noreuil, Leslie G Biesecker, Joel Moss, Thomas N Darling
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. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27874891/recurrent-cerebriform-connective-tissue-nevus-on-the-foot-of-a-patient-with-proteus-syndrome
#10
LETTER
Jianbing Wu, Qiang Wang, Pangen Cui, Xinfeng Wu, Zhenzhen Yan
No abstract text is available yet for this article.
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27860216/somatic-overgrowth-disorders-of-the-pi3k-akt-mtor-pathway-therapeutic-strategies
#11
REVIEW
Kim M Keppler-Noreuil, Victoria E R Parker, Thomas N Darling, Julian A Martinez-Agosto
The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27836382/propensity-score-matched-analysis-comparing-the-therapeutic-efficacies-of-cefazolin-and-extended-spectrum-cephalosporins-as-appropriate-empirical-therapy-in-adults-with-community-onset-escherichia-coli-klebsiella-spp-and-proteus-mirabilis-bacteraemia
#12
COMPARATIVE STUDY
Chih-Chia Hsieh, Chung-Hsun Lee, Ming-Yuan Hong, Yuan-Pin Hung, Nan-Yao Lee, Wen-Chien Ko, Ching-Chi Lee
In this study, the therapeutic efficacy of cefazolin was compared with that of extended-spectrum cephalosporins (ESCs) (cefotaxime, ceftriaxone and ceftazidime) as appropriate empirical therapy in adults with community-onset monomicrobial bacteraemia caused by Escherichia coli, Klebsiella spp. or Proteus mirabilis (EKP). Compared with cefazolin-treated patients (n = 135), significantly higher proportions of patients in the ESC treatment group (n = 456) had critical illness at bacteraemia onset (Pitt bacteraemia score ≥4) and fatal co-morbidities (McCabe classification)...
December 2016: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/27735155/proteus-syndrome
#13
Shailender Rawal, Bhuwan Sharma, Surekha Dabla, Jasminder Singh, Shivraj Goyal
Proteus syndrome is an extremely rare disorder with a documentation of only 100 cases world over till date. This sporadic disorder involves the skeletal system, central nervous system, eyes, skin, soft tissues and vascular system. We report a case of Proteus syndrome in a 22 year male presenting with abnormally enlarged and hypertrophied feet resulting in marked physical constraints.
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728734/a-rare-case-report-of-proteus-syndrome
#14
Vaishak Muralidharan, U M Vaishak, M Anjali, A Jayaprakash
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27703636/bronchoscopic-concerns-in-proteus-syndrome-a-case-report
#15
Jung-Min Hong, Hyeon Jeong Lee, Eun Soo Kim, Hae-Kyu Kim, Soeun Jeon, Hyae-Jin Kim
Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. PS shows highly clinical variability due to overgrowth of the affected areas, and several features can make anesthetic management challenging. Little is known about the airway problem associated with anesthesia in PS patients. An 11-year-old girl with PS was scheduled for ear surgery under general anesthesia. She had features complicating intubation including facial asymmetry and disproportion, abnormal teeth, limitation of neck movement due to torticollis, and thoracolumbar scoliosis...
October 2016: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/27684079/treatment-of-atypical-compartment-syndrome-due-to-proteus-infection
#16
Justin Stull, Suneel Bhat, Andrew J Miller, Ryan Hoffman, Mark L Wang
Compartment syndrome is an orthopedic emergency with a multitude of etiologies. Although it is most commonly associated with trauma to the extremity, hematoma and infection are 2 rare etiologies of insidious compartment syndrome. Proteus mirabilis is an opportunistic gram-negative species that can infect the respiratory tract, urinary tract, and open wounds. The authors present the case of a 69-year-old woman who developed tissue necrosis and compartment syndrome secondary to an untreated hematoma infected by P mirabilis...
September 29, 2016: Orthopedics
https://www.readbyqxmd.com/read/27631514/egfr-exon-20-insertion-duplication-mutations-characterize-fibrous-hamartoma-of-infancy
#17
Jason Y Park, Cynthia Cohen, Dania Lopez, Erica Ramos, Jennifer Wagenfuehr, Dinesh Rakheja
Fibrous hamartoma of infancy (FHI) is a benign mesenchymal tumor histologically characterized by a mixture of intersecting fascicles of fibroblasts/myofibroblasts in collagenous stroma, nests of primitive oval or stellate cells in basophilic mucoid stroma, and mature adipose tissue. We hypothesized that FHI, because of histologic overlap with mesenchymal overgrowth tumors seen in CLOVES (Congenital Lipomatous Overgrowth with Vascular, Epidermal, Skeletal anomalies) and Proteus syndromes, may harbor mutations in signaling pathways associated with cellular proliferation...
December 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27607321/genetic-basis-for-vascular-anomalies
#18
REVIEW
A Yasmine Kirkorian, Anna L Grossberg, Katherine B Püttgen
The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome...
September 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27550858/somatic-akt1-mutations-cause-meningiomas-colocalizing-with-a-characteristic-pattern-of-cranial-hyperostosis
#19
Kim M Keppler-Noreuil, Eva H Baker, Julie C Sapp, Marjorie J Lindhurst, Leslie G Biesecker
Somatic genetic mutations in meningiomas are associated with histologic subtypes, anatomical location, and grade. Concomitant hyperostosis occurs with some meningiomas and the pathogenesis is not well understood. Cranial hyperostosis and meningiomas are common in patients with Proteus syndrome, which is caused by a somatic activating mutation in AKT1 c.49G>A. This same mutation has also been found in 6-9% of sporadic non-syndromic meningiomas. Sixty-one patients with Proteus syndrome meeting clinical diagnostic criteria were evaluated at the NIH from 1997 to 2014...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27426476/cloves-syndrome-review-of-a-pik3ca-related-overgrowth-spectrum-pros
#20
REVIEW
A Martinez-Lopez, G Blasco-Morente, I Perez-Lopez, J D Herrera-Garcia, M Luque-Valenzuela, D Sanchez-Cano, J C Lopez-Gutierrez, R Ruiz-Villaverde, J Tercedor-Sanchez
Overgrowth syndromes are characterized by global or localized disproportionate growth associated with other anomalies, including vascular malformations and neurological and/or visceral disorders. CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) is an overgrowth syndrome caused by mosaic activating mutation in gene PIK3CA, which gives rise to abnormal PI3K-AKT-mTOR pathway activation...
January 2017: Clinical Genetics
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