An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.

Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism and anomalies of the aortic arch. Because the patient had been diagnosed with primary hypoparathyroidism at another hospital, a diagnosis of 22q11.2 DS had been overlooked. A chest X-ray examination revealed widening of the mediastinum caused by a high-positioned right aortic arch, and we subsequently confirmed a diagnosis of 22q11.2 DS using fluorescence in situ hybridization. Because primary hypoparathyroidism is a rare disorder, physicians should be aware of the variable phenotypic features of 22q11.2 DS.

Increased serum thymidine kinase activity in acute sarcoidosis.

This is the first case report of acute sarcoidosis with increased serum thymidine kinase (TK) activity. A 43-year-old male presented fever, swelling of parotid glands, lymphadenopathy, and peripheral neuropathy. Sarcoidosis was pathologically diagnosed by lung and parotid gland biopsy. His serum TK, which was increased to 11.2 U/l at diagnosis (normal <5 U/l), normalized after glucocorticoid therapy. Serum TK has been considered as a good marker of the proliferative activity of various types of neoplasms. Its rise in sarcoidosis has, however, not been described. Because acute sarcoidosis sometimes resembles malignant lymphoma, the possible rise of serum TK in sarcoidosis may be worthy of note.

[A case of racemose hemangioma of a bronchial artery complicated with atrial septal defect and localized peripheral ground-glass opacity].

We report a case of racemose hemangioma of the right bronchial artery complicated with an atrial septal defect (ASD) and ground-glass opacity localized in the right upper lung lobe. A 42-year-old woman was admitted for the pre-operative assessment of ASD. Aortography and selective angiography revealed that the right bronchial artery was markedly dilated and convoluted, draining into the right intercostal arteries and the right upper pulmonary vein. The patient was suffering from exertional dyspnea, but produced no bloody sputum. Since videobronchoscopy showed normal mucosal findings without bronchiectasis, primary racemose hemangioma of the right bronchial artery was diagnosed, and was treated by ligation of the bronchial artery and patch-closure of the ASD. The ground-glass opacity observed preoperatively in the periphery of the right upper lung lobe vanished after surgery. This opacity was considered to have been localized pulmonary congestion due to augmented hydrostatic pressure in the right upper pulmonary vein, induced by increased pulmonary blood flow through the ASD and the drainage route of the racemose bronchial artery into right upper pulmonary vein.

Nestin, a maker for multilineage potential of cells from human primary and restenotic coronary artery plaques.

Nestin is a type of intermediate filament abundantly expressed in neuroepithelial stem cells or mesenchymal stem cells. We assessed directional coronary atherectomy specimens from primary and restenotic lesions for expression of nestin. Immunohistochemistry showed predominant expression of nestin in stellate smooth muscle cells (SMCs). Given that nestin has been proposed to be a marker for putative stem cells, our results suggest that human coronary plaques contain cells that have the potential for multiple lineages. Although the role of nestin remains unclear, nestin-positive stellate SMCs are more frequently seen in patients with unstable angina.

Successful treatment of renovascular hypertension due to fibromuscular dysplasia by intravascular ultrasound-guided atherectomy.

A 22-year-old man presented with renovascular hypertension, based on a stenosis of the distal portion of the right renal artery with a "string of beads"-like appearance. An intravascular ultrasound image at the renal artery lesion revealed irregularity of the vascular wall. Directional atherectomy was performed and histopathology of atherectomised tissues showed medial fibroplasia, a common type of fibromuscular dysplasia. After atherectomy his hypertension was markedly improved. We report here a case of renovascular hypertension due to fibromuscular dysplasia, successfully diagnosed and treated with IVUS-guided renal atherectomy.

Angiogenesis inhibitor TNP-470 (AGM-1470) suppresses vascular smooth muscle cell proliferation after balloon injury in rats.

BACKGROUND: Although TNP-470, a synthetic analog of fumagillin, may inhibit vascular intimal hyperplasia, the effects of TNP-470 on smooth muscle cell (SMC) proliferation have not been demonstrated in vivo. The aim of this study was to confirm the effect of TNP-470 on vascular SMC proliferation using a rat carotid artery balloon injury model. MATERIALS AND METHODS: Rats were treated with vehicle or with TNP-470 at low dosage (10 mg/kg), medium dosage (20 mg/kg), or high dosage (40 mg/kg). The animals received subcutaneous injections of materials three times a week from the day following balloon injury. All rats were sacrificed at 2 weeks after injury. The ratio of intimal-to-medial cross-sectional areas (I/M ratio) and the PCNA labeling index was calculated for each group. The DNA synthesis of cultured SMCs was also evaluated using [3H]thymidine incorporation assays. Smooth muscle cells were stimulated with basic fibroblast growth factor and TNP-470 (0.01-100 ng/ml) were added. RESULTS: The inhibition of intimal hyperplasia increased in a dose-dependent manner. TNP-470 also decreased PCNA expression in the neointima and inhibited DNA synthesis of cultured SMCs. CONCLUSIONS: TNP-470 may be useful in the prevention of vascular intimal hyperplasia.

Smooth muscle cell outgrowth from coronary atherectomy specimens in vitro is associated with less time to restenosis and expression of a key Transcription factor KLF5/BTEB2.

Atherectomy specimens offer an opportunity to study the biology of coronary artery lesions. We cultured smooth muscle cells (SMCs) from specimens obtained from 24 patients with coronary restenosis after angioplasty to study the relationship between activity of SMCs (in vitro outgrowth) and the time course of restenosis. We also examined expression of a Kruppel-like zinc-finger transcription factor 5 (KLF; also known as BTEB2 and IKLF), which is markedly induced in activated SMCs, in the same specimens. SMC outgrowth was observed in 9 of 24 specimens (37.5%). Restenosis occurred sooner (p < 0.01) in patients whose specimens showed outgrowth compared to those whose specimens showed no outgrowth. Immunostaining for KLF5 was more common in specimens with outgrowth (89 vs. 20%, p < 0.01). These data suggest that the number of activated SMCs in lesions may determine in vitro outgrowth and also affect the time to restenosis.