Background-In the treatment of type B acute aortic dissection without complications, better results are obtained if surgery is performed before enlargement of the aorta in patients who are predicted to show aortic enlargement and if drug-based treatment is continued for patients who are predicted to show no enlargement. The purpose of this study was to predict the acute-phase factors that may affect chronic-phase aortic enlargement by studying chronic-phase enlargement of dissections in patients without complications during the acute phase. Methods and Results-In 101 patients with type B acute dissection who had no complications, univariate and multivariate factor analyses were performed to determine the predictors for chronic-phase enlargement (Ն60 mm) of the dissected aorta. The independent predominant predictors for aortic enlargement in the chronic phase were a maximum aortic diameter of Ն40 mm and a patent false lumen during the acute phase. The values of actuarial freedom from aortic enlargement for the patients with a maximum aortic diameter of 40 mm and a patent false lumen at 1, 5, and 10 years were 43%, 33%, and 22%, respectively, whereas in patients with a maximum aortic diameter of Ͻ40 mm and a closed false lumen, the values were 97%, 94%, and 84%, respectively. Conclusions-These results suggest that patients with type B acute aortic dissection who show a maximum aortic diameter of Ն40 mm and a patent false lumen should undergo surgery earlier during the chronic phase before enlargement of aorta, whereas patients with a maximum aortic diameter of Ͻ40 mm and a closed false lumen should continue to receive hypotensive therapy.
Context: Natriuretic peptide receptor-B (NPR-B, GC-B in rodents; gene name NPR2) is a guanylyl cyclase-coupled receptor that mediates the effect of C-type natriuretic peptide. Homozygous mutations in human NPR-B cause acromesomelic dysplasia, type Maroteaux (OMIM 602875), an autosomal recessive skeletal dysplasia. NPR-B has an intracellular kinase homology domain (KHD), which has no kinase activity, and its functional significance in vivo is currently unknown. Objective:We examined the functional significance of a novel NPR-B KHD mutation in humans. Patients and Methods:A 28-yr-old Japanese male presented with marked short stature (118.5 cm, Ϫ9.3 SD). His limbs showed marked shortening in the middle and distal segments. His parents had relatively short stature with height z-scores of Ϫ2.75 and Ϫ0.98 (his father and mother, respectively). Direct sequencing of coding region of the NPR2 gene of the family was performed. The mutant receptor activity was investigated by saturation binding assay and cGMP measurement. Additionally, interaction between the mutant and wild type allele was investigated by the titration experiments. Results:We identified a novel missense mutation L658F in KHD of NPR-B in homozygous and heterozygous states in the patient and his parents, respectively. The mutation conferred normal binding affinity for C-type natriuretic peptide but no discernible ligand-induced cGMP production. Furthermore, L658F mutant impaired wild-type NPR-B-mediated cGMP production in a dose-dependent manner, suggesting that short stature found in L658F heterozygote can be caused by its dominant-negative effect. Conclusions:This study provides the first evidence that intact KHD of NPR-B is essential for skeletal development.
The degree of fusiform dilatation of the proximal descending aorta, a patent false lumen, and a large aortic diameter can be predominant predictors of late aortic events in patients with type B acute aortic dissection. Patients with these predictors should be recommended to undergo early interventions (surgery or stent-graft implantation) or at least be closely followed up during the chronic phase before such events develop.
We report a relatively rare surgical treatment for two cases of inflammatory pseudotumors of the lung. In case 1, a 52-year-old male with a history of left chest pain was admitted to our hospital for an abnormal nodule with an irregular margin that was detected in the left upper lung field. The nodule, measuring 15 mm in diameter, was larger than the one observed six months earlier, which had been removed by a thoracoscopic resection. In case 2, a 64-yearold female with a history of chronic cough and hemoptysis was admitted to our hospital, and an abnormal nodule with pleural indentation was detected in the lower left lung field. The nodule, measuring 8 mm in diameter, was also removed by a thoracoscopic resection. In both cases, the histologic examination enabled us to diagnose the lesion as an inflammatory pseudotumor. In general, it is very difficult to differentiate inflammatory pseudotumors from malignant tumors of the lung. The best treatment for inflammatory pseudotumors is usually early and complete surgical resection, since it can lead to improved survival. Therefore, we consider thoracoscopy-aided surgery to be less invasive and more useful than other surgical methods in the diagnosis and treatment of inflammatory pseudotumor of the lung.
Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers. Using fluorescence in situ hybridization, we demonstrated the deletion to encompass the TWIST locus and the HOXA cluster. We suggest that many, if not all, of the features of this patient could be accounted for by combined haploinsufficiency of the TWIST and HOXA cluster. Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p.
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