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Letteratura scientifica selezionata sul tema "Syndrome de Shwachman-Diamond"

Autore: Grafiati

Pubblicato: 14 dicembre 2024

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Articoli di riviste sul tema "Syndrome de Shwachman-Diamond"

1

Tesakov, I. P., E. A. Deordieva, T. G. Brontveyn, and A. N. Sveshnikova. "Shwachman–Diamond syndrome: a hematologist's view." Pediatric Hematology/Oncology and Immunopathology 22, no. 3 (2023): 185–91. http://dx.doi.org/10.24287/1726-1708-2023-22-3-185-191.

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Abstract (sommario):

Shwachman–Diamond syndrome is a rare genetic disorder with an autosomal recessive inheritance pattern. Most often (in more than 90% of cases) this disease is caused by biallelic pathogenic variants in the highly conserved SBDS gene located on the long arm of chromosome 7. However, approximately 10% of patients with the clinical phenotype of Shwachman–Diamond syndrome lack mutations in SBDS but have pathogenic variants in other genes, such as DNAJC21 or EFL1. Shwachman–Diamond syndrome is a multisystemic disorder characterized by exocrine pancreatic insufficiency, protein-energy undernutrition,

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2

Tan, Huihan, Dequan Su, and Zhiqiang Zhuo. "Shwachman-diamond syndrome." Medicine 100, no. 7 (2021): e24712. http://dx.doi.org/10.1097/md.0000000000024712.

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3

Sabirova, D. R., A. R. Shakirova, I. I. Ramazanova, and N. V. Shakurova. "Shwachman–Diamond Syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, no. 5 (2021): 223–26. http://dx.doi.org/10.21508/1027-4065-2021-66-5-223-226.

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Abstract (sommario):

This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

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4

Shimamura, Akiko. "Shwachman-Diamond Syndrome." Seminars in Hematology 43, no. 3 (2006): 178–88. http://dx.doi.org/10.1053/j.seminhematol.2006.04.006.

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5

Dror, Yigal, and Melvin H. Freedman. "Shwachman-Diamond Syndrome." British Journal of Haematology 118, no. 3 (2002): 701–13. http://dx.doi.org/10.1046/j.1365-2141.2002.03585.x.

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6

Mack, David R. "Shwachman-Diamond syndrome." Journal of Pediatrics 141, no. 2 (2002): 164–65. http://dx.doi.org/10.1067/mpd.2002.126918.

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7

Smith, O. P. "Shwachman-Diamond syndrome." Seminars in Hematology 39, no. 2 (2002): 95–102. http://dx.doi.org/10.1053/shem.2002.31915.

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8

Dall’Oca, C., M. Bondi, M. Merlini, M. Cipolli, F. Lavini, and P. Bartolozzi. "Shwachman–Diamond syndrome." MUSCULOSKELETAL SURGERY 96, no. 2 (2011): 81–88. http://dx.doi.org/10.1007/s12306-011-0174-z.

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9

Andolina, Jeffrey R., Colleen B. Morrison, Alexis A. Thompson, et al. "Shwachman-Diamond Syndrome." Journal of Pediatric Hematology/Oncology 35, no. 6 (2013): 486–89. http://dx.doi.org/10.1097/mph.0b013e3182667c13.

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10

Maslak, P. "Shwachman-Diamond Syndrome." ASH Image Bank 2005, no. 0314 (2005): 101320. http://dx.doi.org/10.1182/ashimagebank-2005-101320.

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Tesi sul tema "Syndrome de Shwachman-Diamond"

1

ANDRÉ, VALENTINA ISABELLA. "Improving the understanding of Shwachman-Diamond Syndrome." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2012. http://hdl.handle.net/10281/29980.

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Abstract (sommario):

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with an incidence of 1 in 50.000 births. In 2001, the genetic defect of SDS was mapped to the centromeric region of chromosome 7 and in 2003 the defect was narrowed down to a single gene, which was named the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. The mutations in the SBDS gene were identified in 90% of patients. Pancreatic exocrine insufficiency, bone marrow dysfunction with peripheral blood cytopenias, skeletal abnormalities, short stature and immune dysfunction characterize the disorder. Neutropenia plays a cruci

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2

BARDELLI, DONATELLA. "SHWACHMAN-DIAMOND SYNDROME: FROM PATHOGENESIS TO DRUG TARGETING." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/170787.

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Abstract (sommario):

La Sindrome di Shwachman (SDS) è una rara malattia genetica, autosomica recessiva, caratterizzata da insufficienza pancreatica, disfunzioni ematologiche, displasie scheletriche e disordini cognitivi. Nel 90% dei pazienti vengono riscontrate mutazioni a carico del gene SBDS. Similarmente ad altre sindromi midollari, i pazienti affetti da SDS hanno un aumentato rischio di insorgenza di mielodisplasie e leucemia, ma i meccanismi responsabili di questa predisposizione non sono ancora stati indagati in modo approfondito. Le cellule mesenchimali stromali (MSCs) vengono considerate fattori con un ruo

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3

Menne, Tobias Fritz. "Functional insights into the protein family mutated in Shwachman-Diamond syndrome." Thesis, University of Cambridge, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612892.

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4

Hoslin, Angela. "Genetic and phenotypic characterisation of a novel Efl1 mouse mutant of Shwachman Diamond syndrome." Thesis, University of Oxford, 2016. https://ora.ox.ac.uk/objects/uuid:78fdeb8d-ed5c-4bc7-aca2-e71c50df49a0.

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Abstract (sommario):

A novel mouse mutant was identified through an ENU (N-ethyl-N-nitrosourea) mutagenesis screen due to an abnormal gait. Next generation sequencing revealed the causative mutation to be in the gene Efl1 (K983R). The protein EFL1 is involved in ribosome maturation, a cellular process that is defective in diseases collectively known as ribosomopathies. More specifically, EFL1 is critical for the release of anti-association factor eIF6 from the 60S subunit, which allows subsequent joining with the 40S subunit to form a translationally active particle. Shwachman Diamond syndrome (SDS) is a ribosomop

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5

Bertrand, Alexis. "Caractérisation fonctionnelle de mutations somatiques compensatrices d'elF6 dans le contexte du syndrome de Shwachman- Diamond." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL089.

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Abstract (sommario):

Le syndrome de Shwachman Diamond (SDS) est une ribosomopathie génétique rare entraînant une altération de la synthèse protéique associée à de nombreux symptômes, notamment une insuffisance médullaire et une neutropénie pouvant évoluer vers un syndrome de myélodysplasie ou une leucémie myéloïde aiguë. Les mutations bialléliques du gène SBDS sont responsables de plus de 90 % des cas de SDS et nous avons récemment identifié des mutations bialléliques EFL1 comme une nouvelle cause génétique de SDS. SBDS et EFL1 évincent le facteur elF6 de la sous-unité ribosomale pré60S, permettant à cette dernièr

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6

Rigby, Kate. "The behavioral phenotype in Shwachman-diamond syndrome : An exploration of learning, behavioral and psychological functioning." Thesis, Royal Holloway, University of London, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.529040.

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Abstract (sommario):

Research was carried out to consider the cognitive, learning and behavioural impact of Shwachman-Oiamond Syndrome (SOS) on children and adolescents. Although a physical condition, it is increasingly suspected to produce significant psychological and behavioural effects. Anecdotal evidence suggested that children with SOS had similar cognitive, behavioural and social presentations that differed from the normal population, suggesting developmental patterns that may result from SOS. Research to confirm the presence of such patterns would provide information to support the development of appropria

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7

BEDINI, GLORIA. "Shwachman-Diamond Syndrome: an autosomal recessive inherited bone marrow failure disorder with defective angiogenesis and lymphoid lineage impairment." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2021. http://hdl.handle.net/10281/304798.

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Abstract (sommario):

La sindrome Shawachman-Diamond (SDS) è una malattia multi-organo caratterizzata da disfunzioni midollari ed insufficienza pancreatica. I pazienti SDS sono inoltre soggetti a sviluppo di anomalie ematologiche gravi, quali neutropenia, SMD e/o LMA. Nella prima parte di questo lavoro ci siano focalizzati sullo studio dell’alterata capacità angiogenica in vitro delle MSCs derivate da pazienti SDS. L’angiogenesi non coinvolge solo la patogenesi dei tumori solidi, ma anche lo sviluppo delle malattie ematologiche. Le MSCs sono in grado di supportare l’angiogenesi attraverso il differenziamento cellul

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8

Ho, William. "Characterization of oral diseases in Shwachman-Diamond syndrome." 2005. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=370197&T=F.

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9

Ellenor, Darlene Wendy. "Attempts to identify interactors of the Shwachman-Diamond syndrome protein." 2005. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=370359&T=F.

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10

Sen, Saswati. "Mechanisms of Erythropoietic Failure in Shwachman Diamond Syndrome Caused by Loss of the Ribosome-related Protein, SBDS." Thesis, 2009. http://hdl.handle.net/1807/18860.

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Abstract (sommario):

Anemia occurs in 60% of patients with Shwachman Diamond Syndrome (SDS). Although bi-allelic mutations in SBDS cause SDS, it is unclear whether SBDS is critical for erythropoiesis and what the pathogenesis of anemia is in SDS. I hypothesize that SBDS protects early erythroid progenitors from p53 family member mediated apoptosis by promoting ribosome biosynthesis and translation. SBDS deficiency by vector-based shRNA led to impaired cell expansion of differentiating K562 cells due to accelerated apoptosis and reduced proliferation. Furthermore, the cells showed general reduction of 40S, 60S,

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Libri sul tema "Syndrome de Shwachman-Diamond"

1

Ho, William. Characterization of oral diseases in Shwachman-Diamond syndrome. 2005.

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2

Ellenor, Darlene Wendy. Attempts to identify interactors of the Shwachman-Diamond syndrome protein. 2005.

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3

Boocock, Graeme Roy Brooke. Identification and characterisation of the shwachman-diamond syndrome gene and its orthologues. 2006.

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4

Editorial Staff of Annals of the New York Academy of Sciences. Annals Meeting Reports - Research Advances in Bipolar Disorder and Shwachman-Diamond Syndrome, Volume 1242. Wiley & Sons, Limited, John, 2012.

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5

Popovic, Maja. Genetic and physical mapping of the Shwachman-Diamond syndrome locus at the pericentromeric region of chromosome 7. 2003.

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Capitoli di libri sul tema "Syndrome de Shwachman-Diamond"

1

Chong-Neto, Herberto Jose, and Debora Carla Chong-Silva. "Shwachman-Diamond Syndrome." In Encyclopedia of Medical Immunology. Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_147.

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2

Myers, Kasiani C., and Akiko Shimamura. "Shwachman-Diamond Syndrome." In Pediatric Oncology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-61421-2_8.

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3

Chong-Neto, Herberto Jose, and Debora Carla Chong-Silva. "Shwachman-Diamond Syndrome." In Encyclopedia of Medical Immunology. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-9209-2_147-1.

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4

Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, et al. "Shwachman Diamond Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1589.

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5

Fasth, Anders. "Shwachman-Diamond Syndrome (SDS)." In Genetic Syndromes. Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-319-66816-1_95-1.

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6

Cipolli, M. "Shwachman-Diamond Syndrome: Clinical Phenotypes." In Genetic Disorders of the Exocrine Pancreas. KARGER, 2002. http://dx.doi.org/10.1159/000070354.

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7

Hall, Christine M., Amaka C. Offiah, Francesca Forzano, Mario Lituania, Gen Nishimura, and Valérie Cormier-Daire. "Metaphyseal Dysplasia with Pancreatic Insufficiency and Cyclical Neutropenia (Shwachman-Bodian-Diamond Syndrome, SBDS), SBDS-, EFL1-, DNAJC21- and SRP54-Related." In Fetal and Perinatal Skeletal Dysplasias, 2nd ed. CRC Press, 2024. http://dx.doi.org/10.1201/9781003166948-42.

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8

"Shwachman-Diamond Syndrome (Shwachman-Bodian-Diamond syndrome, 7q11)." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_15571.

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9

MACK, DAVID. "Shwachman-Diamond Syndrome." In Pediatric Gastroenterology. Elsevier, 2008. http://dx.doi.org/10.1016/b978-0-323-03280-3.50046-6.

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10

"Shwachman-Diamond Syndrome." In Diagnostic Pathology: Blood and Bone Marrow. Elsevier, 2018. http://dx.doi.org/10.1016/b978-0-323-39254-9.50055-6.

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Atti di convegni sul tema "Syndrome de Shwachman-Diamond"

1

Osetek-Müller, K., A. Bellon, A. Wagner, et al. "Präimplantationsdiagnostik zum Ausschluss von Shwachman-Bodian-Diamond-Syndrom: Etablierung eines Allel-spezifischen Multiplex-PCR basierten Assays für das SBDS-Gen." In 64. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe e. V. Georg Thieme Verlag, 2022. http://dx.doi.org/10.1055/s-0042-1756977.

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Rapporti di organizzazioni sul tema "Syndrome de Shwachman-Diamond"

1

Novina, Carl. Dysregulated microRNA Activity in Shwachman-Diamond Syndrome. Defense Technical Information Center, 2015. http://dx.doi.org/10.21236/ada624270.

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Revskoy, Sergei. Identification of Genetic Co-Modifiers in Shwachman-Diamond Syndrome. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada592341.

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Revskoy, Sergei. Identification of Genetic Co-Modifiers in Shwachman-Diamond Syndrome. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada592442.

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