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Biomedical subjects

Marcia Blacksin

Publications and source records attributed to Marcia Blacksin.

7 recordsLinked to original sources

A translocation involving the placental growth factor gene is identified in an epithelioid hemangioendothelioma.

Hemangioendothelioma is a relatively rare vascular tumor that is considered a low- to intermediate-grade malignant neoplasm. Cytogenetic reports of hemangioendothelioma are rare. Two reports with translocations involving chromosomes 1 and 3 have been described. Here we report a case of an epithelioid hemangioendothelioma arising in the foot of a 56-year-old female, with a 46,XX,-6,t(10;14)(p13;q24),+r. The regions in 10p13 and 14q24 encompass genes that participate in growth regulation. One of the genes at 14q24 encodes for placental growth factor [PlGF, also called vascular endothelial growth factor (VEGF)-related protein]. Placental growth factor is a member of the VEGF growth factor family. Placenta growth factor binds only to VEGF receptor-1 (FLT-1). It has been suggested that PlGF may modulate VEGF-induced angiogenesis by the formation of PlGF/VEGF heterodimers in cells producing both factors. It has been postulated that PlGF is involved in intra- and intermolecular cross-talk between VEGF receptor-1 (FLT) and receptor-2 (FLK-1/KDR). Since expression of VEGF and its receptor, FLK-1, is seen in several cases of epithelioid hemangioendothelioma and plasma VEGF level is also used to follow-up this tumor, we performed immunohistochemical analysis for PlGF and VEGF in our case. The strong positivity for both PlGF and VEGF observed in our case implies that the t(10;14)(p13;q24) most likely involves PlGF, which may be one of the genes driving oncogenesis in these tumors.

Chromosomes, Human, Pair 10↗

Cortical chondroblastoma: report of a case and literature review of this lesion reported in unusual locations.

Chondroblastoma is a rare benign tumor occurring in adolescence and young adulthood, almost always involving the epiphysis of long bones. A 24-year-old man presented with a discrete soft-tissue lesion penetrating the cortex of the right distal femoral metadiaphyseal region. Biopsy revealed a chondroblastoma, and the patient subsequently underwent a total curettage of the lesion with cancellous bone graft from the iliac crest.

Adult↗

Muscle infarction in a 13 year-old female with type 1 diabetes mellitus of short duration.

A 13 year-old female with an 11-month history of type 1 diabetes mellitus (DM) was admitted to the hospital with a muscle infarction. Diagnosis of this rare complication of DM was suggested by clinical presentation, magnetic resonance imaging (MRI) and muscle biopsy. While diabetic muscle infarction (DMI) has been previously described in adult patients with long-standing DM associated with microangiopathy, it is an unexpected finding in this clinical setting.

Adolescent↗

Traumatic venous varix causing sciatic neuropathy: case report.

OBJECTIVE AND IMPORTANCE: Sciatic neuropathy rarely presents in nonpenetrating trauma because of protection of the nerve by the pelvis, the gluteal muscles, and the tissues in the posterior thigh. We present the case of a patient who fell and subsequently developed a traumatic venous varix of the inferior gluteal vein that caused compression sciatic neuropathy. CLINICAL PRESENTATION: Seven days after a fall onto her right buttock, the patient developed a painful burning paresthesia in her leg and numbness on the dorsum of her foot. Numerous studies ruled out lumbar spine pathological abnormalities as the cause of the pain. Conventional magnetic resonance imaging revealed a lesion adjacent to the sciatic nerve. Gradient echo and two-dimensional time-of-flight magnetic resonance imaging sequences confirmed this to be a vascular lesion originating from the inferior gluteal vein and compressing the sciatic nerve. INTERVENTION: Operative resection obliterated the venous varix, thereby relieving the patient's pain and neurological deficit. CONCLUSION: No case of a traumatic venous varix of the inferior gluteal vein compressing the sciatic nerve has been reported to date. Surgical resection was successful in obliterating the lesion and relieving the symptoms.

Accidental Falls↗

Reliability analysis for radiographic measurement of limb length discrepancy: full-length standing anteroposterior radiograph versus scanogram.

Patients with limb length discrepancy (LLD) often have associated angular deformities requiring a standing full-length radiograph of the lower limb in addition to a scanogram. The purpose of our study was to determine the intraobserver and interobserver reliability of measuring LLD with both techniques, using computed radiography. The LLD was measured on 70 supine scanograms and standing anteroposterior radiographs of the lower extremity by 5 blinded observers on 2 separate occasions. Intraclass correlation coefficient (ICC) and mean absolute difference (in millimeters) was calculated to assess intraobserver and interobserver reliability and found to be excellent for both radiographic techniques. Intraobserver ICC and mean absolute difference was 0.975 to 0.995 and 1.5 to 2.6 mm for scanogram and 0.939 to 0.996 and 1.5 to 4.6 mm for the standing radiograph, respectively. Repeated measurements for both radiographic studies were within 5 mm of the first measurement greater than 90% and within 10 mm greater than 95% of times. Interobserver ICC and mean absolute difference was 0.979 and 2.6 mm for scanogram and 0.968 and 3.0 mm for the standing radiograph. The reliability was excellent irrespective of age, sex, and underlying diagnosis other than Blount disease, which had good reliability. A standing anteroposterior radiograph of the lower extremity should be the imaging modality of choice when evaluating patients with limb length inequality who may have angular deformities because it allows a comprehensive evaluation of the extremity and is as reliable as a scanogram for measuring LLD. This approach may decrease the radiation exposure and financial burden involved in assessing patients with unequal limb lengths.

Adolescent↗