... syndrome. This led to a relatively low-cost airframe, with many single point failure points, carrying expensive payloads and ...
I found it was easy to get into the 'why me?' syndrome. Partly because of the disability. It was more not being able to eat ...
syndrome". Arch Phys Med Rehabil. 91: 1291-305. doi:10.1016/j.apmr.2010.02.008. PMID 20684913. "Anal Fissure Symptoms, ... "Glyceryl trinitrate patches-An alternative treatment for shoulder impingement syndrome". Journal of Orthopaedic Translation. 3 ...
Cayler cardiofacial syndrome' is used. Cayler syndrome is part of 22q11.2 deletion syndrome. It was characterized by Cayler in ... Asymmetric crying facies (ACF), also called Cayler cardiofacial syndrome, partial unilateral facial paresis and hypoplasia of ... Cayler GG (1969). "Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association". ... "Vasomotor instability in neonates with chromosome 22q11 deletion syndrome". American Journal of Medical Genetics. 121A (3): 231 ...
Tardieu's syndrome. Also called Caffey-Kempe syndrome. A Good Knight for Children: C. Henry Kempe's Quest to Protect The Abused ... The Kempe Center ISPCAN C.H. Kempe et al., "The Battered Child Syndrome", 1962. The Kempe Center. Tardieu's syndrome. ... His research led to the publication of "The Battered Child Syndrome." Kempe, his colleagues and wife Ruth founded The Kempe ... Brandt F. Steele published the paper, "The Battered Child Syndrome." Publishing this paper led to the identification and ...
... are associated with a variant of Long QT syndrome called Timothy's syndrome and also with Brugada syndrome. Large-scale genetic ... Pagon RA, Bird TC, Dolan CR, Stephens K, Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (1993). "Timothy Syndrome". ... GeneReviews/NIH/NCBI/UW entry on Brugada syndrome CACNA1C protein, human at the US National Library of Medicine Medical Subject ... "The genetic basis of Brugada syndrome: a mutation update". Human Mutation. 30 (9): 1256-66. doi:10.1002/humu.21066. PMID ...
He also grew up with Systemic Lupus, Primary Addison's and a blood clotting condition (Antiphosolipid Syndrome). After ... "Antiphospholipid syndrome". Wikipedia. 2017-02-10. "Paracanoe". Wikipedia. 2017-01-19. http://sunshinepando.com/2016/05/brandon ...
Some of these syndromes include: certain inherited mutations in the genes BRCA1 and BRCA2 with a more than 75% risk of breast ... However, such germline mutations (which cause highly penetrant cancer syndromes) are the cause of only about 1 percent of ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
Primary Sjögren's syndrome is the combination of dry eyes and xerostomia. Secondary Sjögren's syndrome is identical to primary ... Sicca syndrome is not a specific condition, and there are varying definitions, but the term can describe oral and eye dryness ... Xerostomia, also known as dry mouth and dry mouth syndrome, is dryness in the mouth, which may be associated with a change in ... Xerostomia may be caused by autoimmune conditions which damage saliva producing cells . Sjögren's syndrome is one such disease ...
This syndrome was first described in Tanzania by Louise Jilek-Aall, a Norwegian psychiatric doctor in Tanzanian practice, ... "Nodding syndrome". Emerg Infect Dis. 19 (9): 1374-3. doi:10.3201/eid1909.130401. PMC 3810928 . PMID 23965548. James, William D ...
Syndrome 52. Participation 1 53. Participation 2 Ninth tankōbon 54. Union 55. Journey 56. Unit 57. Capital 58. Shield Tenth ...
"Marfan Syndrome". Johns Hopkins Medicine. Retrieved 2011-11-23. Booth, Jeremy (1977). "A short history of blood pressure ... Antoine Marfan first describes the symptoms of Marfan syndrome. An improved sphygmomanometer, for the measurement of blood ...
Rasmussen's Syndrome"". Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Beaumanoir A, Mira L, et al, eds. ... In 1972 and 1986 he described the syndromes lateron named after him together with his wife Eva (also a neurologist and ... Rasmussen's Syndrome. Boston - London - Oxford, Butterworth-Heinemann 1991 Andermann F, Rasmussen T, eds. Chronic Encephalitis ... Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology. In ...
Further studies led to VGKC antibodies being recognized in Morvan's syndrome and limbic encephalitis as well. It was for many ... The prognosis with treatment is generally good and much better than in the classic paraneoplastic syndromes. Patients, in one ... The classic presentation is with Morvan's syndrome, a disease with the features of neuromyotonia (i.e. peripheral ... Treatment of an associated tumour is implicated in all paraneoplastic neurologic syndromes. Case series have been published ...
Micro syndrome". American Journal of Diseases of Children (1960). 147 (12): 1309-12. doi:10.1001/archpedi.1993.02160360051017. ... Micro syndrome RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex Tbc domain GRCh38: Ensembl release 89: ... "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nature Genetics. 37 (3): 221-3. doi:10.1038/ng1517 ... "A second family with Micro syndrome". Clinical Dysmorphology. 8 (4): 241-5. doi:10.1097/00019605-199910000-00002. PMID 10532171 ...
This is seen sometimes in persons with Asperger syndrome. Producing these nonverbal elements requires intact motor areas of the ... McPartland J, Klin A (2006). "Asperger's syndrome". Adolesc Med Clin. 17 (3): 771-88. doi:10.1016/j.admecli.2006.06.010. PMID ...
"CLOVES Syndrome". National Organization for Rare Diseases. Archived from the original on 2 April 2015. Retrieved 24 March 2015 ... It is believed that Friedberg wrote the first description of CLOVES syndrome. Friedberg wrote many essays on surgical and ... Alomari, AI; Thiex, R; Mulliken, JB (October 2010). "Hermann Friedberg's case report: an early description of CLOVES syndrome ...
Other DNA repair disorders include: Werner's syndrome: premature aging and retarded growth Bloom's syndrome: sunlight ... Humans born with inherited defects in DNA repair mechanisms (for example, Li-Fraumeni syndrome) have a higher cancer risk. The ... German J (March 1969). "Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients". American ... Fearon ER (November 1997). "Human cancer syndromes: clues to the origin and nature of cancer". Science. 278 (5340): 1043-50. ...
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ... Another T-box gene, TBX1, is involved in velo-cardio-facial syndrome DiGeorge syndrome, the most common deletion which has ...
Prader-Willi Syndrome • Asperger's Syndrome • Traumatic Brain Injury Started in 1993, a theater group of adults and children ... These disabilities include: • Down Syndrome • Intellectual disability • Autism • Seizure Disorder • Cerebral Palsy • Mental ...
Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome polysomies can be inherited ... Trisomy 21 is a form of Down syndrome that occurs when there is an extra copy of chromosome 21. The result is a genetic ... "Down Syndrome". Medline Plus. Retrieved 22 April 2014. Dhandha, S; Hogge, WA; Surti, U; McPherson, E (Dec 15, 2002). "Three ... and myelodysplastic syndromes (MDS). AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases ...
In Sjögren's syndrome, anti-Ro and anti-La antibodies correlate with early onset, increased disease duration, parotid gland ... The presence of both antibodies is found in 30-60% of Sjögren's syndrome, anti-Ro antibodies alone are found in 50-70% of ... Anti-La antibodies are also found in SLE; however, Sjögren's syndrome is normally also present. Anti-Ro antibodies are also ... Anti-PM-Scl antibodies are found in up to 50% of polymyositis/systemic sclerosis (PM/SSc) overlap syndrome. Around 80% of ...
"Cri Du Chat Syndrome (Cat Cry Syndrome)". Encyclopedia of Special Education. Wiley. Retrieved 27 September 2013. "Klinefelter ... Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely ... One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This ... "Genetics of Marfan Syndrome". Medscape. WebMD LLC. Stafford, Kate; Mannor, Michael. "Mutations and Genetic Disease". Genetic ...
UW entry on ROR2-Related Robinow Syndrome GeneCard for ROR2 ROR2 Mutations Cause Brachydactyly Type B and Robinow Syndrome This ... 2008). "Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation". Am. J. Med. Genet. A. 146A ... It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine ... In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by ...
DiGeorge syndrome is a genetic disorder caused by the deletion of a small section of chromosome 22. This results in a midline ... DiGeorge syndrome is the most common congenital cause of thymic aplasia in humans. In mice, the nude mouse strain are ... These syndromes are caused by defective hematopoietic progenitor cells which are the precursors of both B- and T cells. This ... It was thought to be a cause of sudden infant death syndrome but is now an obsolete term. Due to the large numbers of apoptotic ...