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Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S. Moravej H, et al. Endokrynol Pol. 2015;66(2):170-4. doi: 10.5603/EP.2015.0024. Endokrynol Pol. 2015. PMID: 25931047 Free article. Review.
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. ...Recently, mutations in FKBP10, localised to chromosome 17q21, have been identified in some patients of Bruck syndrome. Twenty-se
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. ...Re
Molecular Mechanisms of Shigella Pathogenesis; Recent Advances.
Pakbin B, Brück WM, Brück TB. Pakbin B, et al. Int J Mol Sci. 2023 Jan 26;24(3):2448. doi: 10.3390/ijms24032448. Int J Mol Sci. 2023. PMID: 36768771 Free PMC article. Review.
Shigella species uses attachment, invasion, intracellular motility, toxin secretion and host cell interruption mechanisms, causing mild diarrhoea, haemorrhagic colitis and haemolytic uremic syndrome diseases in humans through the expression of effector delivery systems, pr …
Shigella species uses attachment, invasion, intracellular motility, toxin secretion and host cell interruption mechanisms, causing mild diar …
Silicone implants and lymphoma: The role of inflammation.
Bizjak M, Selmi C, Praprotnik S, Bruck O, Perricone C, Ehrenfeld M, Shoenfeld Y. Bizjak M, et al. J Autoimmun. 2015 Dec;65:64-73. doi: 10.1016/j.jaut.2015.08.009. Epub 2015 Aug 29. J Autoimmun. 2015. PMID: 26330346 Review.
Paradigmatic examples include the development of lymphoma in Sjogren's syndrome and Hashimoto thyroiditis, gastric MALT lymphoma in Helicobacter pylori infection, or lymphomas associated with infections by Epstein-Barr virus, human herpes virus 8 (HHV 8) and leukemia/lymph …
Paradigmatic examples include the development of lymphoma in Sjogren's syndrome and Hashimoto thyroiditis, gastric MALT lymphoma in H …
Examining clinical similarities between myalgic encephalomyelitis/chronic fatigue syndrome and D-lactic acidosis: a systematic review.
Wallis A, Ball M, McKechnie S, Butt H, Lewis DP, Bruck D. Wallis A, et al. J Transl Med. 2017 Jun 7;15(1):129. doi: 10.1186/s12967-017-1229-1. J Transl Med. 2017. PMID: 28592308 Free PMC article. Review.
BACKGROUND: The pursuit for clarity in diagnostic and treatment pathways for the complex, chronic condition of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) continues. This systematic review raises a novel question to explore possible overlapping aetiology in …
BACKGROUND: The pursuit for clarity in diagnostic and treatment pathways for the complex, chronic condition of myalgic encephalomyelitis/chr …
Prenatal diagnosis of Bruck syndrome.
Berg C, Geipel A, Noack F, Smrcek J, Krapp M, Germer U, Bender G, Gembruch U. Berg C, et al. Prenat Diagn. 2005 Jul;25(7):535-8. doi: 10.1002/pd.801. Prenat Diagn. 2005. PMID: 16034828 Review.
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. There are only few reports describing this rare syndrome of multiple fractures and joint contractures tha
Bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogr
A personalized management approach in disorders of the irritable bowel syndrome spectrum.
Schnedl WJ, Michaelis S, Mangge H, Enko D. Schnedl WJ, et al. Clin Nutr ESPEN. 2023 Oct;57:96-105. doi: 10.1016/j.clnesp.2023.06.028. Epub 2023 Jun 28. Clin Nutr ESPEN. 2023. PMID: 37739739 Free article. Review.
Symptoms of the disorders across the irritable bowel syndrome (IBS) spectrum include several different, usually postprandial, abdominal complaints. ...However, the symptom profile of IBS spectrum disorders seems similar to that of food intolerance/malabsorption syndrome
Symptoms of the disorders across the irritable bowel syndrome (IBS) spectrum include several different, usually postprandial, abdomin …
Support for the microgenderome invites enquiry into sex differences.
Wallis A, Butt H, Ball M, Lewis DP, Bruck D. Wallis A, et al. Gut Microbes. 2017 Jan 2;8(1):46-52. doi: 10.1080/19490976.2016.1256524. Epub 2016 Nov 3. Gut Microbes. 2017. PMID: 27808584 Free PMC article. Review.
Our recent research inferred support for the microgenderome by showing sex differences in microbiota-symptom associations in a clinical sample of patients with myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS). This addendum expands upon the sex-specific patter …
Our recent research inferred support for the microgenderome by showing sex differences in microbiota-symptom associations in a clinical samp …
Modern approach to children with osteogenesis imperfecta.
Zeitlin L, Fassier F, Glorieux FH. Zeitlin L, et al. J Pediatr Orthop B. 2003 Mar;12(2):77-87. doi: 10.1097/01.bpb.0000049567.52224.fa. J Pediatr Orthop B. 2003. PMID: 12584489 Review.
In forms recently described (types V, VI, VII), such mutations have been excluded. In two other forms, (Bruck, and osteoporosis - pseudoglioma syndromes) defects in other proteins have been characterized. ...
In forms recently described (types V, VI, VII), such mutations have been excluded. In two other forms, (Bruck, and osteoporosis - pse …
18 results