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Brittle Cornea Syndrome
GARD
Brittle cornea syndrome (BCS ) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. ... Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes (mutations) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing. Management of BCS may include monitoring for vision loss, hearing loss, and the development of muscle or skeletal problems.
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Hereditary Breast And Ovarian Cancer Syndrome
Orphanet
Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition. ... The lifetime risk of developing hereditary BC (HBC) and/or OC can reach 80%. Clinical description HBC is not associated with specific phenotypic features. Etiology Autosomal dominant alterations in two genes, BRCA1 and BRCA2 , are likely to account for most familial cases of early-onset BC and/or ovarian cancer (OC), and for 3-4% of all BC. ... Diagnostic methods HBC diagnosis relies upon the following characteristics: increasing numbers of affected family members through the same bloodline (either maternal or paternal), early onset of disease, an excess of bilateral disease, an association with ovarian cancer (at any age), and occurrence of BC in males. Genetic testing confirms the diagnosis and allows better management of people at high risk of developing BC and/or OC.BRCA1, BRCA2, TP53, RAD51C, CHEK2, PALB2, RAD51D, BRIP1, MRE11, BARD1, NBN, PTEN, RAD50, RAD51, ATM, MLH1, ABRAXAS1, RAD51B, RPL21P4, C11orf65, MSH6, MSH2, PMS2, KRT88P, KRAS, PRSS1, BRCA3, MRC1, AR, WT1, SEM1, VHL, PARP1, RASSF7, ALYREF, HOXB13, RNU1-4, OLA1, HSD17B7, BCCIP, EMSY, DHRS11, SLC22A12, HSD17B13, MIR146A, S100A2, PMS1, RB1, FANCC, APRT, CDH1, CDK2, CDKN2A, COL11A2, CRYGD, DHX8, EPHA3, ERBB2, ERCC4, FANCA, FAP, RAD52, HRAS, HSD11B2, HSD17B1, IGFBP4, KIT, MFAP1, MSH3, NF2, NOTCH3, NRAS, APC, LOC111589215
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Bowen-Conradi Syndrome
Orphanet
Outside this population, BCS is considered very rare and has only been reported clinically in 9 patients worldwide to date. To date, there are no non-Hutterite patients reported with biallelic EMG1 pathogenic variants. Clinical description Prenatally BCS is characterized by intrauterine growth retardation and often a breech presentation. BCS patients fail to thrive, experience severe feeding problems and seldom live past infancy. ... Etiology In the Hutterite population, BCS is over-represented secondary to a founder effect, and is due to a missense mutation in the EMG1 gene located to 12p13.3, leading to disturbances in ribosomal biosynthesis. ... The diagnosis can first be identified on antenatal ultrasound; however the findings (particularly in a non-Hutterite infant) are non-specific and would likely not suggest BCS. In a Hutterite fetus, even in the absence of a positive family history, findings such as microcephaly, contractures, and rocker-bottom feet would be strongly suggestive of BCS.
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Budd-Chiari Syndrome
Orphanet
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. ... Obstructions are generally caused by thrombosis (primary BCS). With time, thrombi reorganise to form a fibrous tissue that leads either to localised stenosis of the thrombotic vein or to diffuse obliteration resulting in its transformation into fibrous cords. Localised stenoses may present as the appearance of a membrane-like structure. Secondary BCS results from tumour invasion into the lumen or compression of the vein by an expansive lesion. The principle manifestations of BCS are ascites (which are often massive and intractable) leading to undernutrition and renal insufficiency, gastrointestinal haemorrhage due to portal hypertension, and hepatic insufficiency resulting in encephalopathy and severe infections. However, asymptomatic forms have also been reported. Etiology Primary BCS is associated with a combination of factors that lead to a susceptibility for venous thrombosis: primary myeloproliferative syndromes (present in 50% of cases and manifesting as a 'forme fruste' or atypical forms of the disease, but identified through detection of a mutation in the JAK2 gene), Factor V Leiden thrombophilia, protein C deficiency, antiphospholipid syndrome, Behcet disease, paroxysmal nocturnal haemoglobinuria (see these terms), use of oestrogen-progesterone oral contraceptives and inflammatory colitis.
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Ophthalmia
Wikipedia
Due to the ophthalmia, and his absence from the first battle, he was not buried with proper funeral rites of a Spartan captain. [2] Cicero, on 1 March 49 BC wrote to Atticus that he was suffering from ophthalmia. [3] Eratosthenes , who among other things was a Greek geographer and mathematician, contracted ophthalmia as he aged, becoming blind around 195 BC, depressing him and causing him to voluntarily starve himself to death. He died in 194 BC at the age of 82. [4] Hannibal 's sight was lost in his right eye in 217 BC by what was likely ophthalmia.
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Ischiopatellar Dysplasia
Wikipedia
. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... J Bone Joint Surg Br. 1979;61:172–175. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... Am J Med Genet. 1995;57:558–561. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... Z Orthop 1988;126:22–29. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H. ... J Bone Joint Surg Br. 1979;61:172–175. ^ Bongers EM, Duijf PH, van Beersum SE, Schoots J, Van Kampen A, Burckhardt A, Hamel BC, Losan F, Hoefsloot LH, Yntema HG, Knoers NV, van Bokhoven H.
- Bronchogenic Cyst Orphanet
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Warsaw Breakage Syndrome
Wikipedia
. ^ Alkhunaizi E, Shaheen R, Bharti SK, Joseph-George AM, Chong K, Abdel-Salam GMH, Alowain M, Blaser SI, Papsin BC, Butt M, Hashem M, Martin N, Godoy R, Brosh RM Jr, Alkuraya FS, Chitayat D (2018) Warsaw breakage syndrome: Further clinical and genetic delineation. ... Appl Clin Genet 12:239-248 ^ van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP (2010) Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1.
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Premature Ovarian Failure 2a
OMIM
Sala et al. (1997) analyzed 11 balanced X;autosome translocations associated with POF, including that of patient 'BC,' who was previously studied by Philippe et al. (1993) and Philippe et al. (1995). ... Molecular Genetics In a 17-year-old girl (patient BC) with secondary amenorrhea and a balanced X;12 translocation, previously studied by Philippe et al. (1993) and Philippe et al. (1995) and in whom Sala et al. (1997) mapped the breakpoint to a specific YAC, Bione et al. (1998) demonstrated that the translocation breakpoint was in the last intron of the DIAPH2 gene (300108.0001).
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Krista And Tatiana Hogan
Wikipedia
They were born in Vancouver , British Columbia, and are the only unseparated conjoined twins of that type currently alive in Canada. [1] They live with their mother, Felicia Simms, in Vernon, British Columbia , have two sisters and a brother and often travel to Vancouver for care at BC Children's Hospital and Sunny Hill Health Centre for Children . [2] Contents 1 Birth 2 Early infant life 3 Progression to childhood 4 See also 5 References 6 Further reading 7 External links Birth [ edit ] The twins were given a 20 percent chance of survival at birth. [ citation needed ] At birth at B.C. ... Retrieved 2011-05-12 . ^ https://www.cbc.ca/cbcdocspov/m_features/the-hogan-twins-share-a-brain-and-see-out-of-each-others-eyes ^ Statement from BC Women's regarding Felicia Simms delivery Archived 2007-06-19 at the Wayback Machine ., News release, BC Women's Hospital & Health Centre, October 25, 2006 ^ The Twins Who Share a Brain ^ a b "CTV British Columbia - Family learns B.C. twins can't be separated - CTV News, Shows and Sports - Canadian Television" .
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Equine Recurrent Uveitis
Wikipedia
Appaloosas which develop ERU are more likely than other breeds to have ERU in both eyes, and more likely to become blind in one or both eyes. [1] References [ edit ] ^ a b Gilger, BC; Hollingsworth, SR (2016). "Chapter 8: Diseases of the uvea, uveitis and recurrent uveitis". In Gilger, BC (ed.). Equine Ophthalmology (3rd ed.).
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Focal Cortical Dysplasia
Wikipedia
FCD type 2b exhibits complete loss of laminar structure, and the presence of CDN and enlarged cells are called balloon cells (BC) for their large elliptical cell body shape, laterally displaced nucleus, and lack of dendrites or axons . ... Some recent evidence may suggest a role for in utero infection with certain viruses such as cytomegalovirus and human papilloma virus. [ citation needed ] Seizures in FCD are likely caused by abnormal circuitry induced by the presence of CDNs and BCs. These abnormal cell types generate abnormal electrical signals which spread out to affect other parts of the cerebral cortex.
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Baker's Itch
Wikipedia
Fisher's contact dermatitis (6th ed.). Hamilton: BC Decker Inc. p. 428. ISBN 9781550093780 . ^ Hill, Dennis S. (2003).
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Focal Cortical Dysplasia, Type Ii
OMIM
Lawson et al. (2005) ascertained 34 cases of cortical dysplasia of Taylor from a surgical database; 15 were classified as CDT with balloon cells (CDT-BC) and 19 as CDT with dysplasia only (CDT-D). The common fundamental neuropathologic characteristic of the 2 subtypes was the presence of large, bizarre neurons (neuronal cytomegaly), which is also seen in tuberous sclerosis and hemimegalencephaly. The CDT-BC cases were characterized by a diffuse increase in cortical thickness (at least 2 times normal); no clear cortical-white matter junction due to excess 'spillover' of neurons; panlaminar diffuse replacement of cortical neurons by giant, dysmorphic, maloriented neurons; many GFAP (137780)-immunoreactive balloon cells; GFAP-immunoreactive fibrillar astrocytosis; and focal, severe white matter abnormalities. ... Lawson et al. (2005) noted that the neuropathologic findings of CDT-BC were similar to those seen in tuberous sclerosis, whereas the findings in CDT-D were similar to hemimegalencephaly, suggesting separate pathophysiologies for the 2 subtypes of CDT. MRI findings showed that nearly one-third of CDT-BC cases had normal or very subtle changes, whereas some cases showed focal cortical thickening, blurring of the gray-white margins, and white matter abnormalities.NPRL2, NUP133, COL4A1, MTOR, DEPDC5, NPRL3, TSC2, AKT1, PIK3CG, DCX, PIK3CD, PIK3CB, PIK3CA, AGER, TSC1, NR1H2, SV2A, RGS6, TRPC4, PANX1, TESC, SLC12A5, NEUROG2, WDR59, MIR323A, TRPC5, RELN, TRPC1, EIF4G1, AKT2, ATP1B2, BDNF, BMP4, CDK5, CTNNB1, PTK2B, SLC12A3, GSK3B, ICAM1, NGF, NTF3, PIK3R2, RASA1, C20orf181
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Agitation (Dementia)
Wikipedia
Other possible interventions, such as traditional antipsychotics or antidepressants, are less well studied for this condition. [3] References [ edit ] ^ Jost BC, Grossberg GT (1996). "The evolution of psychiatric symptoms in Alzheimer's disease: a natural history study".
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Silent Sinus Syndrome
Wikipedia
"Queen Meresankh III – the oldest case of bilateral Silent Sinus Syndrome (c. 2620/10 - 2570 BC)?". Anthropologie . 56 (2): 103–113. doi : 10.26720/anthro.17.09.25.2 .
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Plague Of Sheroe
Wikipedia
Encyclopaedia Iranica, Online Edition . v t e Pandemics , epidemics and notable disease outbreaks List of epidemics Local Ancient Hittite plague ( c. 1320–1300 BC) Plague of Athens (429–426 BC) Antonine Plague (165–180 AD) Plague of Cyprian (250–266) Post-classical First plague pandemic (541–767) Plague of Justinian (541–542) Roman Plague (590) Plague of Sheroe (627–628) Plague of Amwas (638–639) Plague of 664 (664–689) Japanese smallpox (735–737) Black Death (1347–1351) Sweating sickness (1485–1551) Early modern 16th century Influenza pandemic (1510) Mexican smallpox (1520) Influenza pandemic (1557–1559) London plague (1563–1564) Maltese plague (1592–1593) London plague (1592–1593) 17th century Maltese plague (1623) Italian plague (1629–1631) Massachusetts smallpox (1633) Great Plague of Seville (1647–1652) Maltese plague (1655) Naples Plague (1656) Great Plague of London (1665–1666) Maltese plague (1675–1676) Great Plague of Vienna (1679) 18th century Great Northern War plague (1710–1712) Great Plague of Marseille (1720–1722) Great Plague of 1738 (1738) Russian plague (1770–1772) Persian Plague (1772) North American smallpox (1780–1782) Philadelphia yellow fever (1793–1798) Modern 19th century Ottoman plague (1812–1819) Maltese plague (1813–1814) Caragea's plague (1813) Groningen epidemic (1829) Great Plains smallpox (1837–1838) Typhus (1847–1848) Copenhagen cholera (1853) Stockholm cholera (1853) Broad Street cholera (1854) Buenos Aires yellow fever (1871) 20th century San Francisco plague (1900–1904) Manchurian plague (1910–1911) LA pneumonic plague (1924) Croydon typhoid (1937) NYC smallpox (1947) Yugoslav smallpox (1972) London flu (1972–1973) Indian smallpox (1974) Surat plague (1994) Malaysian Nipah virus (1998–1999) 21st century Singaporean dengue (2005) Indian dengue (2006) Chikungunya outbreaks (2006) Pakistani dengue (2006) Iraqi cholera (2007) Zimbabwean cholera (2008–2009) Bolivian dengue (2009) Gujarat hepatitis (2009) Western African meningitis (2009–2010) Haiti cholera (2010–2019) Pakistani dengue (2011) Darfur yellow fever (2012) Swansea measles (2013) Western African Ebola (2013–2016) DR Congo Ebola (2014) Madagascar plague (2014) Odisha jaundice (2014) Polio declaration (2014) Indian swine flu (2015) South Korean MERS (2015) Angolan yellow fever (2016) Yemeni cholera (2016–present) Gorakhpur Japanese encephalitis (2017) Saudi Arabian MERS (2018) Kerala Nipah virus (2018) Équateur province Ebola (2018) Kivu Ebola (2018–2020) Madagascar measles (2018) Samoa measles (2019–present) Philippine measles (2019–present) Pacific NW measles (2019) New York measles (2019) Kuala Koh measles (2019) Tonga measles (2019) DRC measles (2019–2020) New Zealand measles (2019–present) Global Influenza pandemic (1510) Influenza pandemic (1557–1559) Second plague pandemic (1348–19th century) First cholera pandemic (1816–1826) Second cholera pandemic (1829–1851) Third cholera pandemic (1852–1860) Third plague pandemic (1855–1960) Fourth cholera pandemic (1863–1879) Fifth cholera pandemic (1881–1896) 1889 flu (1889–1890) Sixth cholera pandemic (1899–1923) Spanish flu (1918–1920) Asian flu (1957–1958) Seventh cholera pandemic (1961–1975) Hong Kong flu (1968–1970) HIV/AIDS (1981–present) SARS (2002–2004) Bird flu (2003–2005) Mumps (2009) Madagascar plague (2008–2017) Swine flu (2009–2010) MERS (2012–present) Chikungunya (2013–2014) Zika (2015–2016) COVID-19 (2019–present) This Iranian history -related article is a stub .
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Sarcoma Botryoides
Wikipedia
Gynecologic Sarcomas. in Holland-Frei Cancer Medicine - 6th Ed. Kufe, DW et al. editors. BC Decker Inc., Hamilton, Ontario, 2003. ^ Piver M, Rose P (1988). ... Neoplasms of the Vulva and Vagina. in Holland-Frei Cancer Medicine - 6th Ed. Kufe, DW et al. editors. BC Decker Inc., Hamilton, Ontario, 2003. ^ Hilgers R (1975).
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Nevi And Melanomas
Wikipedia
Although a nevus and a melanoma are often treated as independent entities, there is evidence that a nevus can be a precursor for a melanoma. [1] Common mutations have been identified in nevi and melanomas. [2] [3] [4] See also [ edit ] List of cutaneous conditions References [ edit ] ^ "6.1 Melanoma Precursors : BC Cancer Agency" . Archived from the original on 2008-10-27. ^ Pollock PM, Harper UL, Hansen KS, et al.
- Pacman Dysplasia Wikipedia