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Topic: Donohue Syndrome

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Williams syndrome

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	Williams syndrome - Wikipedia, the free encyclopedia
		It is characterized by a distinctive, "elfin" facial appearance, an unusually cheerful demeanor, ease with strangers, mental retardation coupled with an unusual facility with language, a love for music, cardiovascular problems such as supravalvular aortic stenosis, and hypercalcemia.
		Williams shares some features with autism, although persons with Williams syndrome generally possess very good social skills, to the point that this condition is sometimes called "cocktail party syndrome".
		Another symptom of Williams syndrome is lack of depth perception and inability to visualize how different parts assmble into larger objects (for example: assembling a jigsaw puzzle).
	en.wikipedia.org /wiki/Williams_syndrome (454 words)

	Untitled Document (Site not responding. Last check: 2007-10-10)
		Def.: The syndrome is characterized by cerebellar hemiataxia, contralateral hemiparesis, and Horner syndrome.
		Def: The syndrome is characterized by a widened palpebral fissure, dilated pupil, slight exophthalmos, and increased perspiration of the forehead.
		Def: The syndrome is characterized by cryptophthalmos, dyscephaly, syndactyly and malformations of the genitalia.
	home.wit.no /SkarpReklame/Kunder/Bedrifter/Theodor/Glossary.htm (15713 words)

	Williams syndrome -- Facts, Info, and Encyclopedia article (Site not responding. Last check: 2007-10-10)
		Williams syndrome (Williams-Beuren syndrome) is a rare (A disease or disorder that is inherited genetically) genetic disorder, occurring in fewer than 1 in every 20,000 live births.
		It shares some features with ((psychiatry) an abnormal absorption with the self; marked by communication disorders and short attention span and inability to treat others as people) autism, although Williams syndrome children generally possess very good social skills, to the point that this condition is sometimes called "cocktail party syndrome".
		Inability to produce this protien is likely the root of cardiovascular problems in this syndrome, and may be responsible for differences in brain development as well.
	www.absoluteastronomy.com /encyclopedia/w/wi/williams_syndrome.htm (120 words)

	Principles of Pediatric Dermatology - Chapter 37 : CONNECTIVE TISSUE DISEASES
		This syndrome affects infants in the first weeks of life, causing limitation of joint mobility with diffuse thickening of the joints and hyaline tissue deposit.
		All the premature aging syndromes are probably inherited, though the defect may not be obvious in the first few years of life.
		The manifestations of this syndrome are due to defect in collagen, elastic tissue or defect in the epidermal keratinocytes.
	www.drmhijazy.com /english/chapters/chapter37_2.htm (2053 words)

	Blood-clotting disorder can cause miscarriage (Site not responding. Last check: 2007-10-10)
		In this syndrome, antibodies -- missiles the immune system makes to seek and destroy foreign invaders, like germs -- somehow are mistakenly directed against phospholipids, hence the name "antiphospholipid syndrome." In your daughter's case, the antibodies switch clot production to the "on" position.
		As soon as a woman with the syndrome becomes pregnant, she is placed on blood thinners to prevent clot formation and the miscarriage clots can cause.
		Dr. Donohue regrets that he is unable to answer individual letters, but he will incorporate them in his column whenever possible.
	www.yumasun.com /artman/publish/print/printer_4314.shtml (709 words)

	[No title]
		Donohue and Uchida (1954) observed 2 sisters with...
		Insulin-resistant diabetes mellitus, Leprechaunism (homozygous or compound heterozygous), Rabson-mendenhall syndrome (homozygous)...
		Leprechaunism: It is a rare and fatal congenital syndrome of extreme insulin resistance due to inherited defects of the insulin receptor characterized by “elfin” like facies decreased subcutaneous fat, hirsuitism, intrauterine and neonatal growth retardation.
	ibis-birthdefects.org /start/leprecha.htm (829 words)

	Dorlands Medical Dictionary
		A wide variety of animals, including opossums, skunks, raccoons, foxes, pigs, and dogs, shed the infective organisms in the urine, and human infection is due to direct contact with the urine or tissue of such animals or to contact with contaminated water, soil, or vegetation.
		interrogans are believed to be capable of causing any of the clinical syndromes, which vary from a mild carrier state to a fatal disease.
		Severe forms, such as Weil's syndrome, usually are characterized by jaundice.
	www.mercksource.com /pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszSzcommonzSzdorlandszSzdorlandzSzdmd_l_07zPzhtm (3957 words)

	Extra chromosome doesn’t lead to early death
		In Klinefelter's syndrome, the baby is born with three sex chromosomes: XXY.
		When the syndrome is recognized early, the male hormone testosterone is started around age 12 and promotes typical male features.
		Donohue regrets that he is unable to answer individual letters, but he will incorporate them in his column whenever possible.
	www.kilgorenewsherald.com /news/2005/1103/Advice/027.html (256 words)

	Tourette's Disorder - Tourette Syndrome Information Support Site
		Initially Tourette Syndrome was seen as extremely rare and an individual was viewed as having violent muscle contortions (motor tics) and vocal disruptions (vocal tics) combined with outburst of swearing and obscenities.
		Patients with Tourette's Syndrome who have other conditions as well, may be at increased risk for a whole host of other problems, but many of the problems may not be due to Tourette Syndrome but to other conditions they may have.
		"Tourette Syndrome is not a disease; it is a syndrome, a cluster of recognizable patterns.
	www.tourettes-disorder.com (1530 words)

	Post-Polio Health, Summer 2001, Vol. 17, No. 3, continued (Site not responding. Last check: 2007-10-10)
		The value of "Post-Polio Syndrome: Identifying Best Practices in Diagnosis and Care" and "Guidelines for people who had polio" for me is that they represent a peer-reviewed consensus of opinion from researchers and clinicians.
		I think we all should keep this in mind the next time a neurologist tells us we "don't have it." No one is saying there are not consequences to having had polio earlier in life, i.e., the late effects of polio.
		Donohue mentioned the importance of maintaining muscle strength, but not exercising to exhaustion.
	www.post-polio.org /ipn/pnn17-3A.html (1052 words)

	Dr. Donohue: 2/27/00
		With irritable bowel syndrome, the normal progression of muscle contractions, from stomach to rectum, is in turmoil.
		Furthermore, the intestine of those with irritable bowel syndrome is more sensitive to pain than the ordinary intestinal tract.
		Dear Dr. Donohue: I had a series of blood tests, all of which were normal, except for total iron binding capacity.
	www.s-t.com /daily/02-00/02-27-00/zzzaddon.htm (611 words)

	ESHG Posters 3 (Site not responding. Last check: 2007-10-10)
		Spondylothoracic dysplasia (Jarcho-Levin syndrome) and Spondylocostal dysostosis, the confusing vertebral malsegmentation syndromes.
		Arts syndrome was first described in a Dutch family with X-linked ataxia, muscle weakness in response to infections, deafness, loss of vision in early childhood and a fatal course.
		The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3, and is characterized by mental retardation, growth failure, hypotonia, and multiple congenital anomalies, such as microcephaly, blepharoptosis, hypertelorism, ear anomalies, heart defects and deafness.
	www.medacad.org /eshg/abstracts/posters3.htm (16548 words)

	There is help for those with Tourette's Syndrome (Site not responding. Last check: 2007-10-10)
		One of the worst aspects of this condition is the lack of public awareness of it and the unjustified and hurtful blaming of innocent patients for behavior not of their making.
		This is my guess of what you had, so take it with a grain of salt and, at your next visit to your doctor, mention what happened.
		DEAR DR. DONOHUE: I had my first colonoscopy at age 37, and it was severely painful.
	www.yumasun.com /artman/publish/print/printer_6881.shtml (679 words)

	newStandard: 3/31/96
		In sick sinus syndrome, the pattern slows, sometimes to the point of producing a faint.
		Actually, part and parcel of the syndrome is a rapid speedup of the heart from a corresponding speedup of sinus patterns.
		A common treatment for sick sinus syndrome is the artificial pacemaker, which can keep the heart rate steady.
	www.s-t.com /daily/04-96/04-01-96/qdonohu.htm (499 words)

	Nodular Regenerative Hyperplasia (Site not responding. Last check: 2007-10-10)
		The arterial, portal venous, and sinusoidal lesions of the liver were prominent in the present case, and all might be contributing factors for the development of NRH of the liver.
		Schnitzler's syndrome is a rare condition of urticaria, macroglobulinemia, and sclerotic bone lesions.
		Associated conditions in the remaining three cases were Donohue's syndrome, disseminated intravascular coagulation, and angiomyolipoma of the kidney.
	www.thedoctorsdoctor.com /diseases/liver_nrh.htm (5850 words)

	Human protein: P06213 - Insulin receptor precursor (EC ) (IR) (CD220 antigen) [Contains: Insulin receptor alpha ...
		A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.
		Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject.
		It is a severe insulin resistance syndrome characterized by insulin- resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities.
	harvester.embl.de /harvester/P062/P06213.htm (2768 words)

	SEMERC: Information Services: Glossary: D
		The characteristic features found in individuals with Down syndrome were first described by John Langdon Down in 1866.
		In 1959, Professor Lejeune proved that Down syndrome is a genetic condition caused by an extra number 21 chromosome.
		There are three types of Down syndrome: 95% of affected individuals have the type known as standard trisomy 21 (Type 1) in which there is a whole extra chromosome 21 in every cell.
	www.semerc.com /information_services/a_z/d.asp (1505 words)

	Hypoglycemia (Site not responding. Last check: 2007-10-10)
		When glucose levels are not low enough to distinguish the patient's glucose from normal levels, this type of hypoglycemia does not carry the same risks of coma or brain damage as measurable hypoglycemia that meets the Whipple criteria.
		Ammonia is elevated in congenital hyperinsulinism due to glutamic acid dehydrogenase mutations, in Reye's syndrome, and in advanced liver failure.
		Recurrent mild hypoglycemia may fit a reactive hypoglycemia pattern, but this is the peak age for idiopathic postprandial syndrome, and recurrent "spells" in this age group represents orthostatic hypotension or hyperventilation as often as demonstrable hypoglycemia.
	www.info-pedia.net /about/hypoglycemia (4419 words)

	NewStandard: 8/4/96
		J.S. Carpal tunnel syndrome involves painful compression of the main wrist nerve from pressure on its passage tunnel to the fingers.
		Activity calling for repetitious use of the hands and fingers -- from air hammering to typing -- brings on risk of carpal tunnel syndrome.
		Housheng Seradge, a physician who apparently sees a lot of carpal tunnel syndrome, has developed a set of five simple preventive hand exercises.
	www.s-t.com /daily/08-96/08-04-96/e11ad184.htm (485 words)

	Sun Herald - 10/23/05 (Site not responding. Last check: 2007-10-10)
		The syndrome causes many women to become insensitive to the action of insulin, and their blood sugar rises.
		The three most frequent indications of the syndrome are: enlarged, cystic ovaries; menstrual periods that become infrequent and might even stop; and a high blood level of the male hormone testosterone.
		It wouldn't be a breach of confidentiality if you told the family doctor about this so he can broach the subject with your husband and look for causes of it.
	sun-herald.com /NewsArchive2/102305/hn1.htm?date=102305&story=hn1.htm (669 words)

	Sun Herald - 08/19/05 (Site not responding. Last check: 2007-10-10)
		One of the structures that pass through the tunnel on their way to the hand and fingers is a large nerve that supplies the thumb, index, middle and half of the ring finger.
		Carpal-tunnel syndrome results when something compresses that nerve as it runs through the tunnel.
		Diabetes and rheumatoid arthritis are associated with the syndrome.
	sun-herald.com /NewsArchive2/081905/hn1.htm?date=081905&story=hn1.htm (712 words)

	Birth Disorder Information Directory - D
		Dionisi Vici Sabetta Gambarara Syndrome (Vici Syndrome, Absent Corpus Callosum with Cataract and Immunodeficiency)
		IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
		Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections
	www.bdid.com /defectd.htm (262 words)

	Hypoglycemia and Resistance to Ketoacidosis in a Subject without Functional Insulin Receptors -- Ogilvy-Stuart et al. ...
		and the frequency of hypoglycemia in Donohue’s syndrome.
		We have described a patient with Donohue’s syndrome (10),
		Donohue WL, Uchida I. 1954 Leprechaunism: a euphemism for a rare familial disorder.
	jcem.endojournals.org /cgi/content/full/86/7/3319 (5004 words)

	Montelukast and Churg-Strauss Syndrome -- Donohue 119 (2): 668 -- Chest
		Correspondence to: James F. Donohue, MD, FCCP, Division of Pulmonary Medicine, CB #7020, University of North Carolina School of Medicine, Chapel Hill, NC 25514-9117
		syndrome (CSS) is not a direct drug effect, but rather it arises
		Wechsler, ME, Finn, D, Gunawardena, D, et al (2000) Churg-Strauss syndrome in patients receiving montelukast as treatment for asthma.
	www.chestjournal.org /cgi/content/full/119/2/668 (582 words)

	Genotype-phenotype correlation in inherited severe insulin resistance -- Longo et al. 11 (12): 1465 -- Human Molecular ...
		Mutations in this gene cause the insulin-resistant syndromes
		Mutations in the insulin receptor gene in patients with leprechaunism and Rabson–Mendenhall syndrome.
		15 Donohue, L.W. and Uchida, I. (1954) Leprechaunism.
	hmg.oxfordjournals.org /cgi/content/full/11/12/1465 (5907 words)

	eMedicine - Lipodystrophy, Acquired Partial : Article by Waleed Aldhahi, MD, FRCPC
		Barraquer and Simons further characterized the syndrome at the beginning of the 20th century.
		It is a rare syndrome with no known prevalence, although it is more common than the generalized form of acquired lipodystrophy (Lawrence syndrome).
		Prominent veins in the arms with a muscular appearance (not associated with heavy exercise or muscle-building routines) are very characteristic of this syndrome.
	www.emedicine.com /med/topic1304.htm (2136 words)

	Developmental and genetic diseases
		Deafness, sensorineural, with imperforate anus and thumb anomalies (Townes-Brocks syndrome [10])
		Diffuse leiomyomatosis with Alport syndrome (Alport syndrome and diffuse leiomyomatosis [3])
		Dysplastic nevus syndrome, hereditary (Melanoma, cutaneous malignant [28])
	www.gfmer.ch /genetic_diseases_v2/index.php?disinit=D (251 words)

	[No title] (Site not responding. Last check: 2007-10-10)
		They summarized the phenotype as follows: severe intrauterine growth retardation; small, elfin-like face with protuberant ears; distended abdomen; relatively large hands, feet, and genitalia; and abnormal skin with hypertrichosis, acanthosis nigricans, and decreased subcutaneous fat.
		Cantani, A.; Ziruolo, M. G.; Tacconi, M. A rare polydysmorphic syndrome: leprechaunism--review of forty-nine cases reported in the literature.
		Donohue, W. L.; Uchida, I. Leprechaunism: a euphuism for a rare familial disorder.
	zeta.embl-heidelberg.de:8000 /srs5bin/cgi-bin/wgetz?-e+[omim-id:246200] (1924 words)

	Coming to Adoption Indirectly -
		Melissa suffered from a rare, genetic condition called Donohue Syndrome.
		The condition is always fatal, in most children between the ages of six and nine months.
		Since the recessive gene that caused Donohue's was extremely rare in the general population, a baby conceived in this way would almost certainly be healthy.
	library.adoption.com /Hoping-to-Adopt/Coming-to-Adoption-Indirectly/article/504/1.html (1538 words)

	SEMERC: Information Services: Glossary: L
		Features include: onset between the ages of 3 months and 2 years, low body weight, poor sucking ability, loss of head control, seizures, ataxia, irritability, physical and progressive neurological deterioration.
		Features include: a mixed seizure pattern, consisting of petit mal seizures, grand mal seizures and myoclonic seizures, which are difficult to control.
		Onset is usually in early childhood and may be preceded by West syndrome.
	www.semerc.com /information_services/a_z/l.asp (785 words)

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