Multiple Hereditary Exostoses
Gradual Lengthening of the Ulna in Patients with Multiple Hereditary Exostoses with a Dislocated Radial Head
... after gradual lengthening of the ulna. Ulnar shortening re- curred with the growth of four immature patients. In 2007, Akita, et al. reported dislocation of the head of the radius in five extremities/eight forearms. They ...
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Coronal malalignment of lower legs depending on the locations of the exostoses in patients with multiple hereditary exostoses
... Multiple hereditary exostoses (MHE), with an estimated frequency of at least once per 50,000, is one of the most common bony dysplasia occurring in the metaphysis of bones developed by endochondral ...
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Proximal femoral osteochondroma excision aided by computer navigation: surgical technique and case series
... Osteochondromata are common benign bone tumors that occur as solitary tumors as well as in the setting of multiple hereditary exostoses (MHE). The majority of patients do not suffer sufficient ...
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Multiple Hereditary Exostosis of Distal Ulna with Dislocation of Radial Head: A Case Report
... The first description of a patient with multi- ple exostosis has been attributed to Hunter in 1786. In 1814, Boyer published the first des- cription of a family with multiple hereditary exostosis (MHE). ...
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Do hereditary syndrome-related gynecologic cancers have any specific features?
... which hereditary breast- ovarian cancer and hereditary non-polyposis colon cancer syndromes, known as HBOC and Lynch syndromes re- spectively, present the highest relative ...a hereditary syn- drome ...
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ASCERTAINING GENETIC CARRIERS OF HEREDITARY SPHEROCYTOSIS BY STATISTICAL ANALYSIS OF MULTIPLE LABORATORY TESTS
... Correlations of groups of tests indicated that 4 tests spherocyte score, reticulocyte count, hemoglobin, and bilirubin accounted for 88 per cent of the variability between normal subject[r] ...
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Original Article Analysis of EXT1 gene mutation in hereditary multiple exostosis families
... Hereditary multiple exostoses (HME) is also known as hereditary multiple osteochondro- mas (HMO), familial multiple exostosis and hereditary teratogenicosteochondroma ...
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Mice deficient in Ext2 lack heparan sulfate and develop exostoses
... An intriguing issue is whether the premature differentiation of chondrocytes leads to the formation of exostoses or whether distinct processes cause the two phenomena. It has been suggested that the formation of ...
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The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins
... of exostoses Recent advances in the understanding of the molecular biology of endochondral ossification have also proved valuable to the understanding of ...
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Clinical Reasoning: A 15-year-old boy with bilateral wrist pain in the setting of weight loss
... of multiple focal mononeuropathies is sug- gestive of an underlying systemic process, as it would be highly unlikely for multiple neuropathies to occur coincidentally in an otherwise healthy ...
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The expanding repertoire of hereditary information carriers
... Indeed, recent emerging evidence has shown that altered histone marks and non-coding RNAs, either by genetic alteration of enzymes or environmental input, affect offspring phenotypes across multiple generations ...
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Case Report Characterization of a rare case of a bone bridge formed by osteochondromas associated with a novel EXT2 mutation in a patient with hereditary multiple osteochondromas
... revealed multiple bony prominences around her right knee and wrist, with hard, clear boundaries, no activity, and no ...revealed exostoses in the right distal radius, bilateral distal femur, and bilateral ...
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Multiple endocrine neoplasia type 1
... dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex ...
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Clinical management of hereditary colorectal cancer syndromes
... However, some patients with polyposis might have multiple polyps with variable histology and might show overlap between clinically defined syndromes such as hereditary mixed polyposis[r] ...
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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene
... the first renal ultrasound (US) and magnetic resonance imag- ing (MRI) starting at age 20, followed by annual MRI exams and semiannual US exams [1]. Computed tomography (CT) scans should be avoided to reduce any chance ...
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A family with hereditary ataxia
... A family with hereditary ataxia Med J Malaysia Vol 35 No 2 December 1980 A FAMILY WITH HEREDITARY ATAXIA C T TAN SUMMARY An Indian family with four members having hereditary ataxia was presented The i[.] ...
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Do You Realize Two Basic Questions in Genetics?
... its hereditary laws; he never said that this element (genes) was the only element of ...the hereditary material of the germ cells: genes” (visible in encyclopedias and textbooks), is entirely a human ...
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Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency
... with nonpyrogenic inactive ingredients. Ecallantide is preservative-free, with a pH of approximately 7.0; it is stored under refrigeration and should be protected from light. Its recommended dose is 30 mg (3.0 mL) ...
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Brain White Matter Involvement in Hereditary Spastic Paraplegias: Analysis with Multiple Diffusion Tensor Indices
... DTI-based voxelwise statistics were performed by using the program Randomize, part of FSL. Voxelwise differences among groups were assessed, applying 2-sample t tests. We used the thresholded mean FA skeleton (mean value ...
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ole of Hepcidin in the Regulation of Iron Metabolism in Patients with Chronic Liver Diseases M. Penkova, M. Gulubova, J. Ananiev, R. Ivanova, L. Mateva
... Recent evidence has shown that the basis of interference in the synthesis of hepcidin is not a hereditary defect. Indirect evidence of a link between hepcidin, glucose and lipid metabolism come from case reports ...
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