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Topic: Camurati Engelmann disease

	Camurati-Engelmann Disease
		Camurati-Engelmann disease is a rare genetic disorder characterized by progressive widening and malformation of the shafts of the long bones (diaphyseal dysplasia).
		Camurati-Engelmann disease is inherited as an autosomal dominant trait.
		This disease entry is based upon medical information available through the date at the end of the topic.
	www.bchealthguide.org /kbase/nord/nord607.htm (364 words)

	Indian Pediatrics - Editorial
		Engelmann’s disease is a rare condition with usual onset in childhood.
		Differential diagnosis of Engelmann’s disease on the skeletal survey includes dia-physeal dysplasia and severe anemia(9), osteopetrosis, infantile cortical sclerosis and Ribbing’s disease.
		A radiographically similar disorder "Ribbing’s disease" may be very difficult to differentiate from this condition and accord-ing to some authors, it may be a milder form of Engelmann’s(2).
	www.indianpediatrics.net /dec2000/dec-1373-1376.htm (1250 words)

	[No title]
		Engelmann disease, also called Camerati-Engelmann disease, is a rare bone disorder characterized by diaphyseal hyperostosis and muscle hypoplasia; there may also be (mild) cranial sclerosis.
		The prevalence of Engelmann disease is estimated to be
		In familial cases, the disease is inherited in an autosomal dominant mode with incomplete penetrance and variable expression (Sparkes and Graham 1972).
	malattierare.pediatria.unipd.it /pubblicaMR/mr_dx_ing.asp?mr=453 (1306 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-23)
		Diaphyseal dysplasia is a rare, inherited disorder of bone that is characterized by thickening and symmetric malformation of the shaft of the long bones.
		There have been many different mutations in the TGFBeta1 gene that have all been linked to diaphyseal dysplasia, and although the disease is classified as autosomal dominant in inheritance, some people with the mutation will show no abnormalities—leading to so-called “skipped generations” within a family.
		Engelmann’s Disease with cardiomyopathy, Indian Pediatrics, 37, p 1373-76.
	www.madisonsfoundation.org /content/3/1/display.asp?did=619 (971 words)

	Radiology, University of Rochester Medical Center
		Hyperparathyroidism most commonly leads to demineralization of cortical bone, reflecting the "catabolic bone activity" of PTH, with relative preservation, or thickening, of trabecular bone, reflecting its "anabolic activity." Osteitis fibrosa cystica (brown tumors) is an indication of severe disease, which occurs through increased osteoclastic resorption of calcified bone and subsequent replacement by fibrous tissue.
		Untreated disease can result in disorganized bone destruction and replacement with fibrous tissue causing thickening of bony structures, though they are mechanically weak.
		Engelmann’s disease is autosomal dominant and causes gross thickening of the cortex of bones beginning in the femur or tibia and eventually involving all bones.
	www.urmc.rochester.edu /smd/Rad/neurocases/Neurocase189.htm (607 words)

	GeneCard for TGFB1 (Site not responding. Last check: 2007-10-23)
		Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.
		Expression of hyaluronan synthase in intraocular proliferative diseases: regulation of expression in human vascular endothelial cells by transforming growth factor-beta.
		Transforming growth factor-beta(1) in the kidney and urine of patients with glomerular disease and proteinuria.
	bioinfo.cnio.es /cgi-bin/genecards/carddisp?TGFB1&pubmed=236 (4326 words)

	ORPHANET - About rare diseases - About orphan drugs
		Radiographically, the shaft of long bones shows symmetric fusiform thickening of the cortex and widening of the medullary cavity.
		Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia, increased erythrocyte sedimentation rate) and features are commonly associated with the disease.
		The large variation of phenotypes within individuals and families, concerning the topography and symmetry of dysplasia, led some authors to consider CES and Ribbing disease as phenotypic variations of the same disorder.
	www.orpha.net /consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1328 (214 words)

	Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications ...
		Increased tracer uptake is visible in the diaphyseal portion of the long bones of the femora, lower legs, humeri and forearms, clavicles, and frontal bones.
		In CED patients, the narrowing of the medullary cavity at the
		Camurati-Engelmann Disease: New mutations in the latency-associated peptide of the transforming growth factor beta-1 gene.
	jmg.bmjjournals.com /cgi/content/full/43/1/1 (4683 words)

	Medical Dictionary: Camurati-Engelmann disease - WrongDiagnosis.com
		Camurati-Engelmann disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting.
		Camurati-Engelmann disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Camurati-Engelmann disease, or a subtype of Camurati-Engelmann disease, affects less than 200,000 people in the US population.
	www.wrongdiagnosis.com /medical/camurati_engelmann_disease.htm (224 words)

	AskPhysicians.com Bulletin Board (Site not responding. Last check: 2007-10-23)
		Camurati Engelmann Disease by Blaise from Bristol, CT
		Hello my name is Blaise I'm 39 years old and have suffered from a very rare genetic bone disease called Progressive Disphyeal Dysplasia (Camurati Engelmann Disease) for 20 years.
		I know that the mutation that causes this disease was identified last year.
	www.askphysicians.com /cgi-local/forums.cgi?display=thread&forum=31&id=4179 (282 words)

	Human protein: Q671U8 - Transforming growth factor-beta 1 (Fragment). EMBL Bioinformatics Harvester
		defects in tgfb1 are the cause of camurati-engelmann disease (ced) [mim:131300]; also known as progressive diaphyseal dysplasia 1 (dpd1).
		ced is an autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones.
		the disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.
	harvester.embl.de /harvester/Q671/Q671U8.htm (891 words)

	Transforming Growth Factor-beta 1 Mutations in Camurati-Engelmann Disease Lead to Increased Signaling by Altering ...
		Camurati-Engelmann disease (CED) or progressive diaphyseal dysplasia is a rare bone disorder with an autosomal dominant mode
		CED Is Caused by Mutations in the Signal Peptide and LAP of TGFB1-- With the exception of the H222D mutation, all mutations studied in this paper have been described previously (19).
		CED provide evidence that this is a disease-causing mutation.
	www.jbc.org /cgi/content/full/278/9/7718 (4706 words)

	ANNALS Feb2000: COCHLEAR IMPLANTATION FOR AUDITORY REHABILITATION IN CAMURATI-ENGELMANN DISEASE (Site not responding. Last check: 2007-10-23)
		Authors: DAVID R. Camurati-Engelmann disease (progressive hereditary diaphyseal dysplasia) is a rare sclerotic bone disease involving the diaphyses of the long bones, skull base, and clavicles.
		A second patient was rejected as a potential implant recipient due, in part, to narrow internal auditory canals and rapidly progressive disease.
		The otologic manifestations of Camurati-Engelmann disease are reviewed, and issues related to cochlear implantation in this rare disease are discussed.
	www.annals.com /abs/annals666.htm (164 words)

	All Secreted (Site not responding. Last check: 2007-10-23)
		WB Camurati Engelmann disease, CED, Diaphyseal dysplasia 1 progressive, DPD1, TGFB1...
		ELISA, Inhib, WB Camurati Engelmann disease, CED, Diaphyseal dysplasia 1 progressive, DPD1, TGFB1...
		Camurati Engelmann disease, CED, Diaphyseal dysplasia 1 progressive, DPD1, TGFB1...
	www.abcam.com /?c=3516 (561 words)

	Camurati-Englemann disease (Site not responding. Last check: 2007-10-23)
		Camurati-Engelmann disease, or diaphyseal dysplasia, is a very rare autosomal dominant condition often misdiagnosed as muscular dystrophy.
		The condition is actually a neuromuscular dystrophy which results in a characteristic "waddling" gait.
		Nicholls RD. The impact of genomic imprinting for neurobehavioral and developmental disorders.
	www.stevensorenson.com /residents6/camurati-englemann_disease.htm (72 words)

	Medcyclopaedia - Camurati engelmann disease
		(Mario Camurati, 18961948, Italian physician and Guido Engelmann, 20th century, Czechoslovakian surgeon), also called Engelmann's disease, or diaphyseal dysplasia, an inherited generalized dysplasia of bone characterized by cortical thickening of the diaphyses of tubular bones as a result of periosteal and endosteal bone formation.
		Radiographically, the diaphyses of tubular bones show symmetric fusiform thickening of the cortex and narrowing of the medullary cavity.
		Although in many cases the disease progresses in severity, some adolescents show spontaneous improvement.
	www.medcyclopaedia.com /library/topics/volume_iii_1/c/camurati_engelmann_disease.aspx (156 words)

	A Mutation Affecting the Latency-Associated Peptide of TGF{beta}1 in Camurati-Engelmann Disease Enhances Osteoclast ...
		A Mutation Affecting the Latency-Associated Peptide of TGF{beta}1 in Camurati-Engelmann Disease Enhances Osteoclast Formation in Vitro -- McGowan et al.
		Address all correspondence and requests for reprints to: Dr. Miep Helfrich, Department of Medicine and Therapeutics, University of Aberdeen, Institute of Medical Sciences, Foresterhill, Aberdeen AB25 2ZD, United Kingdom.
		Camurati-Engelmann disease (CED) is a rare autosomal dominant
	jcem.endojournals.org /cgi/content/abstract/88/7/3321 (469 words)

	PharmGKB: TGFB1 (Site not responding. Last check: 2007-10-23)
		CED; TGF-beta 1 protein; diaphyseal dysplasia 1, progressive; diaphyseal dysplasia 1, progressive (Camurati-Engelmann disease); transforming growth factor beta 1; transforming growth factor, beta 1; transforming growth factor-beta 1
		Camurati-Engelmann disease, Cystic fibrosis lung disease, modifier of
		This work is supported by the NIH/NIGMS Pharmacogenetics Research Network and Database (U01GM61374).
	www.pharmgkb.org /views/index.jsp?objId=PA350&objCls=Gene (106 words)

	IngentaConnect Camurati-Engelmann Disease: Review of radioclinical features
		To present a retrospective overview of the clinical and radiological features of Camurati-Engelmann disease (CED) in a large family with genetically proven CED.
		Clinical features and imaging studies were available in 8 affected patients out of a large Jewish-Iraqi family with 21 affected members in four generations.
		Typically, fusiform thickening of the diaphyseal portions of the long bones was seen in all 8 patients, but in 1 patient, metaphyseal involvement was observed as well.
	www.ingentaconnect.com /search/expand?pub=infobike://tandf/ard/2003/00000044/00000004/art00013 (261 words)

	Medical Dictionary: Camurati Engelmann disease, type II - WrongDiagnosis.com
		Medical Dictionary: Camurati Engelmann disease, type II Camurati Engelmann disease, type II is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Camurati Engelmann disease, type II, or a subtype of Camurati Engelmann disease, type II, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Camurati Engelmann disease, type II:
	www.wrongdiagnosis.com /medical/camurati_engelmann_disease_type_ii.htm (172 words)

	Camurati-Engelmann Disease - Synonyms, Augusta, Georgia, GA
		Camurati-Engelmann Disease - Synonyms, Augusta, Georgia, GA University Health Care System
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	GeneCard for TGFB1
		atherosclerosis,bone diseases or various forms of cancer,regarding the presence of particular
		Defects in TGFB1 are the cause of Camurati-Engelmann disease (CED) [MIM:131300]; also
		Quarmby S....Kumar S. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro.
	www.genecards.org /cgi-bin/carddisp.pl?gene=TGFB1 (1002 words)

	Cecil Textbook of Medicine : />
		New bone formation gradually envelops both the periosteal and endosteal surfaces of long bone diaphyses.
		With severe disease, osteosclerosis also occurs in the axial skeleton.
		Click here for important legal information about Cecil Textbook of Medicine.
	www.merckmedicus.com /ppdocs/us/common/cecils/chapters/264_016.htm (69 words)

	The Health Library — Musculoskeletal System
		Arthritis and Other Rheumatic Diseases: Arthritis, in General
		Q and A on the Use of Hormones After Menopause for Osteoporosis:NIAMS
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	www-med.stanford.edu /healthlibrary/resources/internet/bodysystems/musc_bone.html (213 words)

	Camurati-Engelmann disease
		Camurati-Engelmann Disease: Two Case Reports Describing Metadiaphyseal Dysplasia Associated with Cerebellar Ataxia
		Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13
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	www.gfmer.ch /genetic_diseases_v2/gendis_detail_list.php?cat3=54 (145 words)

	Gene Expression Atlas: Text Query (Site not responding. Last check: 2007-10-23)
		TGF-beta precursor; diaphyseal dysplasia 1, progressive (Camurati-Engelmann disease)
		title transforming growth factor, beta 1 (Camurati-Engelmann disease)
		head_neck Lens colonic mucosa from 3 patients with Crohn's disease heart
	expression.gnf.org /cgi-bin/index.cgi?chip=U95A&text=41445_at (672 words)

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