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Leopard syndrome

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https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#1
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29717636/importance-of-cardiovascular-examination-in-patients-with-multiple-lentigines-two-cases-of-leopard-syndrome-with-hypertrophic-cardiomyopathy
#2
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Alexander Jurko, Milan Minarik, Michal Mestanik
Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic...
May 2, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29629024/a-rare-case-of-left-ventricular-noncompaction-in-leopard-syndrome
#3
Kyehwan Kim, Min Gyu Kang, Hyun Woong Park, Jin-Sin Koh, Jeong Rang Park, Seok-Jae Hwang, Jin-Yong Hwang
No abstract text is available yet for this article.
March 2018: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/29602897/accelerated-cardiomyocyte-proliferation-in-the-heart-of-a-neonate-with-leopard-syndrome-associated-fatal-cardiomyopathy
#4
Yu Nakagama, Ryo Inuzuka, Kayoko Ichimura, Munetoshi Hinata, Hiroki Takehara, Norihiko Takeda, Satsuki Kakiuchi, Kazuhiro Shiraga, Hiroko Asakai, Takahiro Shindo, Yoichiro Hirata, Makiko Saitoh, Akira Oka
No abstract text is available yet for this article.
April 2018: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29571647/-leopard-syndrome-a-variant-of-noonan-syndrome-with-lentigines
#5
Eloísa de Santiago García-Caro, Ana Pozo Guzmán, Esther Moreno Medinilla
No abstract text is available yet for this article.
March 20, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29559584/gain-of-function-mutations-in-the-gene-encoding-the-tyrosine-phosphatase-shp2-induce-hydrocephalus-in-a-catalytically-dependent-manner
#6
Hong Zheng, Wen-Mei Yu, Ronald R Waclaw, Maria I Kontaridis, Benjamin G Neel, Cheng-Kui Qu
Catalytically activating mutations in Ptpn11 , which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple lentigines (NSML; formerly called LEOPARD syndrome). However, both types of disease mutations are gain-of-function mutations because they cause SHP2 to constitutively adopt an open conformation. We found that the catalytic activity of SHP2 was required for the pathogenic effects of gain-of-function, disease-associated mutations on the development of hydrocephalus in the mouse...
March 20, 2018: Science Signaling
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#7
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29021349/activation-of-autophagy-ameliorates-cardiomyopathy-in-mybpc3-targeted-knockin-mice
#8
Sonia R Singh, Antonia T L Zech, Birgit Geertz, Silke Reischmann-Düsener, Hanna Osinska, Maksymilian Prondzynski, Elisabeth Krämer, Qinghang Meng, Charles Redwood, Jolanda van der Velden, Jeffrey Robbins, Saskia Schlossarek, Lucie Carrier
BACKGROUND: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM cases. MYBPC3 , encoding cMyBP-C (cardiac myosin-binding protein C), is the most frequently mutated HCM gene. METHODS AND RESULTS: We evaluated autophagy in patients with HCM carrying MYBPC3 mutations and in a Mybpc3 -targeted knockin HCM mouse model, as well as the effect of autophagy modulators on the development of cardiomyopathy in knockin mice...
October 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28862807/clinical-pathological-and-dermoscopic-characteristics-of-cutaneous-lesions-in-leopard-syndrome
#9
LETTER
J Banuls, P J Álvarez-Chinchilla, A Lucas, I Poveda, B Encabo-Durán, M Niveiro, E Nagore, P Zaballos
No abstract text is available yet for this article.
March 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28643916/a-review-of-craniofacial-and-dental-findings-of-the-rasopathies
#10
REVIEW
H Cao, N Alrejaye, O D Klein, A F Goodwin, S Oberoi
OBJECTIVES: The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM)...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28591510/-overlap-syndrome-leopard-and-neurofibromatosis-a-case-report
#11
Iris Marina Revollo-Guerra, Ruth Vázquez-Román
We expose a clinical case of a 43-year-old patient who was attended at the Dermatology service in a general hospital of the Instituto Mexicano del Seguro Social, with a disseminated pattern of lentigines, psychomotor retardation and electrocardiographic abnormalities. Afterwards, we made an analysis of the literature.
July 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28582432/in-vivo-efficacy-of-the-akt-inhibitor-arq-092-in-noonan-syndrome-with-multiple-lentigines-associated-hypertrophic-cardiomyopathy
#12
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/28524213/-update-on-the-treatment-of-rasopathies
#13
A Duat-Rodriguez, A Hernandez-Martin
INTRODUCTION: The term 'RASopathies' covers a series of diseases that present mutations in the genes that code for the proteins of the RAS/MAPK pathway. These diseases include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome. Involvement of the RAS/MAPK pathway not only increases predisposition to develop tumours, but also determines the presence of phenotypic anomalies and alterations in learning processes...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28225973/do-you-know-this-syndrome-leopard-syndrome
#14
Flávio Heleno da Silva Queiroz Cançado, Luis Candido Pinto da Silva, Paulo Franco Taitson, Ana Carolina Dias Viana de Andrade, Matheus Melo Pithon, Dauro Douglas Oliveira
Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28196317/common-skin-conditions-in-children-noninfectious-rashes
#15
REVIEW
Brian Z Rayala, Dean S Morrell
Cutaneous adverse drug reactions are among the most common noninfectious rashes of childhood. Cutaneous adverse drug reactions are classified as morbilliform, urticarial, bullous, pustular, or psoriasiform. Atopic dermatitis is one of the most common inflammatory cutaneous eruptions, and is characterized by pruritus and flexural distribution. Emollients and topical corticosteroids are first-line therapies. Topical calcineurin inhibitors are second-line, steroid-sparing drugs for certain conditions, such as face and eyelid eczema...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28144274/noonan-syndrome-a-new-survey
#16
Alireza Tafazoli, Peyman Eshraghi, Zahra Kamel Koleti, Mohammadreza Abbaszadegan
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome...
February 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28056229/-research-progress-on-leopard-syndrome
#17
F Hong, C M Fan
No abstract text is available yet for this article.
December 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/27924582/modeling-rasopathies-with-genetically-modified-mouse-models
#18
REVIEW
Isabel Hernández-Porras, Carmen Guerra
The RAS/MAPK signaling pathway plays key roles in development, cell survival and proliferation, as well as in cancer pathogenesis. Molecular genetic studies have identified a group of developmental syndromes, the RASopathies, caused by germ line mutations in this pathway. The syndromes included within this classification are neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Noonan syndrome with multiple lentigines (NS-ML, formerly known as LEOPARD syndrome), Costello syndrome (CS), cardio-facio-cutaneous syndrome (CFC), Legius syndrome (LS, NF1-like syndrome), capillary malformation-arteriovenous malformation syndrome (CM-AVM), and hereditary gingival fibromatosis (HGF) type 1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27729118/the-experience-of-bilateral-cochlear-implantation-in-a-child-with-leopard-syndrome
#19
Katrien Vermeire, Leslie Wexler, Andrea Vambutas
We present a 3-year old boy with Leopard syndrome. His clinical manifestations included a congenital bilateral sensorineural hearing loss. He underwent cochlear implantation on the right side at age 1 year and on the left side at age 1.5 years. The patient is doing very well and mainstreamed in a regular pre-school program with a teacher of the deaf and home based speech therapy. Bilateral cochlear implantation in the case of a child with Leopard syndrome can be successful.
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#20
REVIEW
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
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