This case report describes the presentation of a 9-year-old boy with a history of hereditary multiple osteochondromatosis who presented to the outpatient setting with progressive difficulty in ambulation. Magnetic resonance imaging of the spine revealed a thoracic spinal tumor, which was surgically removed. After surgery, the boy's ambulation and spasticity/contractures improved. This case is unique because this complication of hereditary multiple osteochondromatosis was identified at an age and in a region that are not typical. From a clinical standpoint, early identification of this complication is important because surgical treatment typically leads to good outcomes.
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http://dx.doi.org/10.1016/j.pmrj.2013.01.014 | DOI Listing |
Exp Ther Med
February 2025
Molecular Pathology, Azienda USL-IRCCS di Reggio Emilia, I-42123 Reggio Emilia, Italy.
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with an annual incidence of ~2 cases per million worldwide. The hereditary form is more likely to present in younger patients. To date, PPGL is considered a complex pathology that is difficult to diagnose.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
View Article and Find Full Text PDFPlants (Basel)
December 2024
Key Laboratory of Biology and Genetic Improvement of Horticultural Crops (South China), Ministry of Agriculture and Rural Affairs, College of Horticulture, South China Agricultural University, Guangzhou 510642, China.
Pitaya is renowned for its delicious taste, high nutritional value, and economic as well as ornamental appeal. Breeding new pitaya varieties can boost economic returns by appealing to consumers with diverse morphological traits. However, the genetic basis underlying key traits in intergeneric hybrids of pitaya has yet to be fully understood.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Department of Invasive Cardiology, Medical University of Białystok, 15-089 Białystok, Poland.
Cardiac transthyretin amyloidosis is an underdiagnosed disorder with significant diagnostic difficulties due to its non-specific clinical manifestations. It is caused by the deposition of protein aggregates with an abnormal tertiary structure in the extracellular matrix. Their accumulation leads to the development of hypertrophic and restrictive cardiomyopathy and, at a later stage, heart failure with preserved ejection fraction syndrome.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Pneumology Department, General University Hospital of Valencia, 46014 Valencia, Spain.
: Angiogenesis is involved in the pathogenesis of hereditary hemorrhagic telangiectasia (HHT). VEGF, ANG2, TGFβ1, and ENG are the most studied angiogenic factors, but their clinical significance in blood samples is still not completely defined. The genetic study of HHT mutations is the test of choice for diagnosing the disease, but this route is expensive, and the causative mutation is not found in up to 10% of cases.
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