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  1. Article ; Online: Autoinflammatory diseases: clinical and genetic advances.

    Farasat, Sharifeh / Aksentijevich, Ivona / Toro, Jorge R

    Archives of dermatology

    2008  Volume 144, Issue 3, Page(s) 392–402

    Abstract: We conducted a literature review to investigate the recent advances in genetics, molecular biology, clinical manifestations, and therapy of 7 inherited diseases that are characterized by seemingly unprovoked inflammation. These autoinflammatory diseases ... ...

    Abstract We conducted a literature review to investigate the recent advances in genetics, molecular biology, clinical manifestations, and therapy of 7 inherited diseases that are characterized by seemingly unprovoked inflammation. These autoinflammatory diseases include familial Mediterranean fever; tumor necrosis factor receptor-associated periodic syndrome; hyperimmunoglobulinemia D with periodic fever syndrome; pyogenic arthritis, pyoderma gangrenosum, and acne syndrome; and the 3 cryopyrinopathies: neonatal-onset multisystem inflammatory disease/chronic infantile neurologic cutaneous and arthropathy syndrome, familial cold autoinflammatory syndrome, and Muckle-Wells syndrome. Recent identification of the susceptibility genes for autoinflammatory diseases has broadened the clinical spectrum as well as the molecular basis of these diseases. The cryopyrinopathies represent a continuum of diseases associated with mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene that encodes cryopyrin. Cryopyrin and pyrin (protein mutated in familial Mediterranean fever) belong to the family of PYRIN domain-containing proteins. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome is associated with mutations in the gene that encodes for CD2-binding protein 1 (CD2BP1), which binds pyrin. Recent studies have shown that activation of the interleukin 1beta pathway is a common mechanism in the pathogenesis of autoinflammatory diseases, further unifying these diseases. Recent advances in genetics and molecular biology have advanced our understanding of the pathogenesis of autoinflammatory diseases. Understanding autoinflammatory diseases will further our knowledge of cutaneous as well as systemic inflammation. Anakinra, a recombinant human interleukin 1 receptor antagonist, is a promising new biologic agent for the treatment of cryopyrinopathies as well other autoinflammatory diseases, such as tumor necrosis factor receptor-associated periodic syndrome and hyperimmunoglobulinemia D with periodic fever syndrome.
    MeSH term(s) Arthritis/genetics ; Autoimmune Diseases/genetics ; Autoimmune Diseases/pathology ; Familial Mediterranean Fever/genetics ; Humans ; Mevalonate Kinase Deficiency/genetics ; Pyoderma Gangrenosum/genetics ; Receptors, Tumor Necrosis Factor/genetics ; Urticaria/genetics
    Chemical Substances Receptors, Tumor Necrosis Factor
    Language English
    Publishing date 2008-01-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 212139-6
    ISSN 1538-3652 ; 0003-987X
    ISSN (online) 1538-3652
    ISSN 0003-987X
    DOI 10.1001/archderm.144.3.392
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: The importance of parental expectations of cognitive improvement for their children with epilepsy prior to starting the ketogenic diet.

    Farasat, Sharifeh / Kossoff, Eric H / Pillas, Diana J / Rubenstein, James E / Vining, Eileen P / Freeman, John M

    Epilepsy & behavior : E&B

    2006  Volume 8, Issue 2, Page(s) 406–410

    Abstract: Although the success rates and complications of various treatment options for children with intractable epilepsy have been described, the actual expectations of parents for these treatments are less clear. Since 1998, parents at our institution have ... ...

    Abstract Although the success rates and complications of various treatment options for children with intractable epilepsy have been described, the actual expectations of parents for these treatments are less clear. Since 1998, parents at our institution have written their goals in a letter before starting their children on the ketogenic diet. One hundred consecutive letters were evaluated. The most common first goal was seizure improvement, second was anticonvulsant reduction, and third was cognitive improvement. Ninety percent requested improvement in cognition or alertness. These expectations were either met or exceeded at 6 months in 52-60% of children. Achieving or surpassing parental expectations for cognitive improvement correlated with longer diet duration (P=0.04), but meeting goals for seizure or anticonvulsant reduction did not. Cognitive improvement (P<0.001) and >90% seizure reduction (P=0.04) at 6 months positively correlated with longer eventual diet duration. Expectations for cognitive improvement need to be discussed prior to beginning the ketogenic diet.
    MeSH term(s) Anticonvulsants/therapeutic use ; Attitude ; Child ; Cognition/physiology ; Dietary Fats/therapeutic use ; Epilepsy/diet therapy ; Epilepsy/drug therapy ; Epilepsy/psychology ; Female ; Goals ; Humans ; Ketosis/metabolism ; Male ; Parents/psychology
    Chemical Substances Anticonvulsants ; Dietary Fats
    Language English
    Publishing date 2006-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2005.12.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

    Herman, Matthew L / Farasat, Sharifeh / Steinbach, Peter J / Wei, Ming-Hui / Toure, Ousmane / Fleckman, Philip / Blake, Patrick / Bale, Sherri J / Toro, Jorge R

    Human mutation. 2009 Apr., v. 30, no. 4

    2009  

    Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the ... ...

    Abstract Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurally defective or attenuated cornified cell envelop have been shown in epidermal scales and appendages of ARCI patients with TGM1 mutations. We review the clinical manifestations as well as the molecular genetics of ARCI. In addition, we characterized 115 TGM1 mutations reported in 234 patients from diverse racial and ethnic backgrounds (Caucasion Americans, Norwegians, Swedish, Finnish, German, Swiss, French, Italian, Dutch, Portuguese, Hispanics, Iranian, Tunisian, Moroccan, Egyptian, Afghani, Hungarian, African Americans, Korean, Japanese and South African). We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. The c.877-2A>G was the most commonly reported TGM1 mutation accounting for 34% (147 of 435) of all TGM1 mutant alleles reported to date. It had been shown that this mutation is common among North American and Norwegian patients due to a founder effect. Thirty-one percent (36 of 115) of all mutations and 41% (29 of 71) of missense mutations occurred in arginine residues in TGase-1. Forty-nine percent (35 of 71) of missense mutations were within CpG dinucleotides, and 74% (26/35) of these mutations were C>T or G>A transitions. We constructed a model of human TGase-1 and showed that all mutated arginines that reside in the two beta-barrel domains and two (R142 and R143) in the beta-sandwich are located at domain interfaces. In conclusion, this study expands the TGM1 mutation spectrum and summarizes the current knowledge of TGM1 mutations. The high frequency of mutated arginine codons in TGM1 may be due to the deamination of 5' methylated CpG dinucleotides. Hum Mutat 0, 1-12, 2009.
    Language English
    Dates of publication 2009-04
    Size p. 537-547.
    Publishing place Wiley Subscription Services, Inc., A Wiley Company
    Document type Article
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.20952
    Database NAL-Catalogue (AGRICOLA)

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    Zs.A 3586: Show issues Location:
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  4. Article ; Online: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

    Herman, Matthew L / Farasat, Sharifeh / Steinbach, Peter J / Wei, Ming-Hui / Toure, Ousmane / Fleckman, Philip / Blake, Patrick / Bale, Sherri J / Toro, Jorge R

    Human mutation

    2009  Volume 30, Issue 4, Page(s) 537–547

    Abstract: Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the ... ...

    Abstract Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare cornification diseases. Germline mutations in TGM1 are the most common cause of ARCI in the United States. TGM1 encodes for the TGase-1 enzyme that functions in the formation of the cornified cell envelope. Structurally defective or attenuated cornified cell envelop have been shown in epidermal scales and appendages of ARCI patients with TGM1 mutations. We review the clinical manifestations as well as the molecular genetics of ARCI. In addition, we characterized 115 TGM1 mutations reported in 234 patients from diverse racial and ethnic backgrounds (Caucasion Americans, Norwegians, Swedish, Finnish, German, Swiss, French, Italian, Dutch, Portuguese, Hispanics, Iranian, Tunisian, Moroccan, Egyptian, Afghani, Hungarian, African Americans, Korean, Japanese and South African). We report 23 novel mutations: 71 (62%) missense; 20 (17%) nonsense; 9 (8%) deletion; 8 (7%) splice-site, and 7 (6%) insertion. The c.877-2A>G was the most commonly reported TGM1 mutation accounting for 34% (147 of 435) of all TGM1 mutant alleles reported to date. It had been shown that this mutation is common among North American and Norwegian patients due to a founder effect. Thirty-one percent (36 of 115) of all mutations and 41% (29 of 71) of missense mutations occurred in arginine residues in TGase-1. Forty-nine percent (35 of 71) of missense mutations were within CpG dinucleotides, and 74% (26/35) of these mutations were C>T or G>A transitions. We constructed a model of human TGase-1 and showed that all mutated arginines that reside in the two beta-barrel domains and two (R142 and R143) in the beta-sandwich are located at domain interfaces. In conclusion, this study expands the TGM1 mutation spectrum and summarizes the current knowledge of TGM1 mutations. The high frequency of mutated arginine codons in TGM1 may be due to the deamination of 5' methylated CpG dinucleotides.
    MeSH term(s) Animals ; Disease Models, Animal ; Genes, Recessive ; Humans ; Ichthyosiform Erythroderma, Congenital/genetics ; Ichthyosiform Erythroderma, Congenital/pathology ; Models, Molecular ; Mutation ; Polymorphism, Genetic ; Protein Structure, Tertiary ; Transglutaminases/chemistry ; Transglutaminases/genetics
    Chemical Substances Transglutaminases (EC 2.3.2.13) ; transglutaminase 1 (EC 2.3.2.13)
    Language English
    Publishing date 2009-02-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Review
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.20952
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: A new American Joint Committee on Cancer staging system for cutaneous squamous cell carcinoma: creation and rationale for inclusion of tumor (T) characteristics.

    Farasat, Sharifeh / Yu, Siegrid S / Neel, Victor A / Nehal, Kishwer S / Lardaro, Thomas / Mihm, Martin C / Byrd, David R / Balch, Charles M / Califano, Joseph A / Chuang, Alice Y / Sharfman, William H / Shah, Jatin P / Nghiem, Paul / Otley, Clark C / Tufaro, Anthony P / Johnson, Timothy M / Sober, Arthur J / Liégeois, Nanette J

    Journal of the American Academy of Dermatology

    2011  Volume 64, Issue 6, Page(s) 1051–1059

    Abstract: Background: The incidence of cutaneous squamous cell carcinoma (cSCC) is increasing. Although most patients achieve complete remission with surgical treatment, those with advanced disease have a poor prognosis. The American Joint Committee on Cancer ( ... ...

    Abstract Background: The incidence of cutaneous squamous cell carcinoma (cSCC) is increasing. Although most patients achieve complete remission with surgical treatment, those with advanced disease have a poor prognosis. The American Joint Committee on Cancer (AJCC) is responsible for the staging criteria for all cancers. For the past 20 years, the AJCC cancer staging manual has grouped all nonmelanoma skin cancers, including cSCC, together for the purposes of staging. However, based on new evidence, the AJCC has determined that cSCC should have a separate staging system in the 7th edition AJCC staging manual.
    Objective: We sought to present the rationale for and characteristics of the new AJCC staging system specific to cSCC tumor characteristics (T).
    Methods: The Nonmelanoma Skin Cancer Task Force of AJCC reviewed relevant data and reached expert consensus in creating the 7th edition AJCC staging system for cSCC. Emphasis was placed on prospectively accumulated data and multivariate analyses. Concordance with head and neck cancer staging system was also achieved.
    Results: A new AJCC cSCC T classification is presented. The T classification is determined by tumor diameter, invasion into cranial bone, and high-risk features, including anatomic location, tumor thickness and level, differentiation, and perineural invasion.
    Limitations: The data available for analysis are still suboptimal, with limited prospective outcomes trials and few multivariate analyses.
    Conclusions: The new AJCC staging system for cSCC incorporates tumor-specific (T) staging features and will encourage coordinated, consistent collection of data that will be the basis of improved prognostic systems in the future.
    MeSH term(s) Carcinoma, Squamous Cell/classification ; Carcinoma, Squamous Cell/pathology ; Cell Differentiation ; Humans ; Lymphatic Metastasis ; Neoplasm Invasiveness ; Neoplasm Staging/classification ; Prognosis ; Skin Neoplasms/classification ; Skin Neoplasms/pathology
    Language English
    Publishing date 2011-01-20
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603641-7
    ISSN 1097-6787 ; 0190-9622
    ISSN (online) 1097-6787
    ISSN 0190-9622
    DOI 10.1016/j.jaad.2010.08.033
    Database MEDical Literature Analysis and Retrieval System OnLINE

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