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proteus syndrome

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https://www.readbyqxmd.com/read/29681107/giant-umbilical-cord-and-hypoglycemia-in-an-infant-with-proteus-syndrome
#1
Tomohiro Saito, Takaya Nakane, Munenori Narusawa, Hideaki Yagasaki, Atsushi Nemoto, Atsushi Naito, Kanji Sugita
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.E17K of AKT1 mutation was confirmed. The patient also had a giant umbilical cord, which has not yet been reported in PS.
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29627129/-new-nosological-and-therapeutic-perspectives-in-syndromic-vascular-malformations-with-a-vein-lymphatic-component
#2
P Henneton, S Mestre, M Nou, I Quere
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. Syndromic vascular malformations are an example: while Klippel-Trenaunay syndrome, Proteus or CLOVES syndrome share many common features, understanding of pathological mechanism and specially the role of the PIK3/AKT/mTOR pathway enables us to rethink their classification...
April 4, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29626058/protean-manifestations-of-proteus-syndrome
#3
Rimesh Pal, Rajsmita Bhattacharjee, Anil Bhansali
No abstract text is available yet for this article.
April 6, 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29574940/prenatal-diagnosis-of-a-fetus-with-proteus-syndrome
#4
Lauren Fogarty, Lauren Currie, David Skidmore, Angelica Oviedo, Namita Sinha, Jillian Coolen
No abstract text is available yet for this article.
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29549527/in-vitro-efficacy-of-arq-092-an-allosteric-akt-inhibitor-on-primary-fibroblast-cells-derived-from-patients-with-pik3ca-related-overgrowth-spectrum-pros
#5
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
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...
March 16, 2018: Neurogenetics
https://www.readbyqxmd.com/read/29444762/hemimegalencephaly-with-bannayan-riley-ruvalcaba-syndrome
#6
Ryan Ghusayni, Monisha Sachdev, William Gallentine, Mohamad A Mikati, Marie T McDonald
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. MRI revealed left hemimegalencephaly...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29388340/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
#7
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29329145/orthopaedic-management-of-leg-length-discrepancy-in-proteus-syndrome-a-case-series
#8
Molly M Crenshaw, Cara G Goerlich, Lauren E Ivey, Julie C Sapp, Kim M Keppler-Noreuil, Allison C Scott, Leslie G Biesecker, Laura L Tosi
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). METHODS: We conducted a retrospective chart review of 8 patients with PS whose primary reason for surgery was LLD...
March 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29166516/proteus-syndrome
#9
Ritha de Cássia Capelato Rocha, Mariani Paulino Soriano Estrella, Danielle Mechereffe do Amaral, Angela Marques Barbosa, Marilda Aparecida Milanez Morgado de Abreu
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. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29103370/boerhaave-s-syndrome-complicated-by-a-saccharomyces-cerevisiae-pleural-empyema-case-report-and-review-of-the-literature
#10
Arno Teblick, Hilde Jansens, Karolien Dams, Francis J Somville, Philippe G Jorens
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...
November 5, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29042227/pathogenetic-insights-from-quantification-of-the-cerebriform-connective-tissue-nevus-in-proteus-syndrome
#11
Neera R Nathan, Rachna Patel, Molly M Crenshaw, Marjorie J Lindhurst, Cara Olsen, Leslie G Biesecker, Kim M Keppler-Noreuil, Thomas N Darling
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 two independent, blinded reviewers. Average measures of plantar CCTN were transformed into a linear mixed model to estimate proportionate change in size with age...
October 14, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28938315/proteus-syndrome-with-a-cranial-intraosseous-lipoma
#12
Erik M Wolfswinkel, Thomas A Imahiyerobo, J Gordon McComb, Pedro A Sanchez-Lara, Mark M Urata
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. This finding established a clinical diagnosis of Proteus syndrome. Given the size of the tumor, producing an extensive deformity, three-dimensional modeling was used to generate a three-dimensional printed implant. The process to achieve a successful outcome is herein described...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28661492/quantifying-survival-in-patients-with-proteus-syndrome
#13
Julie C Sapp, Lian Hu, Jean Zhao, Ashlyn Gruber, Brian Schwartz, Dora Ferrari, Leslie G Biesecker Md
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.MethodsTo address this we used the clinical research records of 64 patients in a longitudinal natural history cohort at the National Institutes of Health to ascertain the data in an organized manner and estimate survival using a Kaplan-Meier approach...
December 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#14
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
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. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28582432/in-vivo-efficacy-of-the-akt-inhibitor-arq-092-in-noonan-syndrome-with-multiple-lentigines-associated-hypertrophic-cardiomyopathy
#15
Jianxun Wang, Vasanth Chandrasekhar, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Maria I Kontaridis
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...
2017: PloS One
https://www.readbyqxmd.com/read/28576518/refractory-sleep-disordered-breathing-due-to-unilateral-lingual-tonsillar-hypertrophy-in-a-child-with-proteus-syndrome
#16
Courtni R Salinas, Brian A Nuyen, Aria Jafari, Javan Nation
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. Endoscopic treatment with coblation effectively and safely treated the obstructive symptoms...
April 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28553400/proteus-syndrome-with-neurological-manifestations-a-rare-presentation
#17
Pallavi Sachdeva, Priyanka Minocha, Rohit Jain, Sadasivan Sitaraman, Manisha Goyal
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. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28523199/de-novo-pten-mutation-in-a-young-boy-with-cutaneous-vasculitis
#18
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
#19
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
#20
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 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...
July 2017: Journal of Molecular Diagnostics: JMD
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