LABRAD : Vol 42, Issue 1 - March 2016 [PDF]
Biochemical Bone Profiles Available at Clinical Laboratoryof Aga Khan University Hospital Ionized Calcium Determination in Clinical Labortory Parathyroid Hormone Disorders and Issues of Testing Tubular Maximum Reabsorption Rate of Phosphate to Glomerular
Aga Khan University Hospital, Karachi,
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Multiple exophytic osteomas of craniofacial bones not associated with Gardner s Syndrome: a case report [PDF]
Exophytic osteomas are mature bone protuberances required to be carefully differentiated from other lesions. The authors present a male, 44 year-old patient s report presenting multiple exophytic osteomas located in both sides of the vestibulomaxillary ...
Mazzoni, Alessandra +3 more
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Chondrosarcoma in Metachondromatosis: A Rare Case Report
Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi +2 more
doaj
Familiäre Tumorerkrankungen im Knochen [PDF]
Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
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Outcome analysis of solitary osteochondromas of femur managed surgically: a series of 32 patients [PDF]
Background: Osteochondroma is the commonest benign bone tumor in humans. This tumor may either be solitary or present as multiple lesions. Solitary osteochondromas are much more common. Femur is the single most common long bone involved followed by tibia
Dev, Bias +6 more
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Uncommon Presentation of a Rib Osteochondroma Misdiagnosed as a Breast Lesion: A Case Report
Case Osteochondromas are common benign bone tumors. Rarely, these lesions present on the ribs and can be concerning for a breast mass. This case discusses a healthy 21‐year‐old female with a firm, fixed, painful breast mass. Her initial ultrasound and 6‐month follow‐up ultrasound were both benign.
Bailey R. Abernathy +5 more
wiley +1 more source
Hereditary multiple exostoses: an educational review
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio +5 more
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An Abnormal Presentation of a Popliteal Artery Mass and a Unique Cause of Claudication
Multiple hereditary exostosis (MHE) is a rare autosomal‐dominant disorder marked by multiple osteochondromas arising from the metaphyses of long bones. Parameniscal cysts, often linked to meniscal tears, can also expand and compress nearby vessels, posing a potential vascular risk.
Jamil Haddad +5 more
wiley +1 more source
A 40-Year-Old Male Presenting with Hereditary Multiple Exostosis: Management and Considerations
Hereditary multiple exostosis is a rare condition in which numerous benign osteochondromas form throughout the body, typically in areas of high bone turnover such as the metaphyseal plates of long bones.
Matthew Wells, Zackary Birchard
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Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA
Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the ...
Defeng Shu +5 more
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