A Japanese male infant with the Weaver syndrome

A 15-month-old male infant who had pre- and postnatal overgrowth, accelerated bone maturation and characteristic facial appearance was described. Although a Japanese female with Weaver syndrome previously reported had slightly different clinical manifestations from others, our patient had typical clinical features of Weaver syndrome. We suggest that a genetic mutation of the syndrome may be the same in Japanese as other ethnic groups and that Weaver syndrome may be an autosomal dominant disorder with variable expressions.     

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria

Hereditary coproporphyria (HCP) is an acute hepatic porphyriawith autosomal dominant inheritance, but with a variable degreeof clinical expression. Molecular cloning, sequencing and expressionof the defective gene for coproporphyrinogen oxidase (CPO) ina patient with HCP were carried out. Enzyme assays revealedthat CPO activity in EBV-transformed lymphoblastoid cells fromthe proband and one of her sisters was     

Increased osteocyte apoptosis during the development of femoral head osteonecrosis in spontaneously hypertensive rats

We investigated the presence of osteocyte apoptosis in the necrotic trabeculae of the femoral head of spontaneously hypertensive rat (SHR) using the in situ nick end labeling (TUNEL) method and transmission electron microscopy. The occurrence of osteonecrosis and ossification disturbance was significantly higher in SHR compared with Wistar Kyoto (WKY) rats, and Wistar (WT) rats used as control animals (P < 0.01). A high population of TUNEL positive osteocytes was detected mainly in 10- and 15-week-old SHRs. Sectioned examination of the femoral head of SHRs and WKY rats by electron microscopy revealed apoptotic cell appearances such as aggregation of chromatin particles and lipid formation. In contrast, a positive reaction was significantly lower in osteocytes in the femoral heads of WT rats (P < 0.01). Our results indicate that apoptosis forms an important component of the global pathologic process affecting the femoral head of SHR, which leads to osteonecrosis in this region.     

Balanced complex rearrangement involving chromosomes 8, 9, and 12 in a normal mother,derivative chromosome 9 with recombinant chromosome 12 in her daughter with minor anomalies

We report on a 19-month-old girl with a derivative chromosome 9 and a recombinant chromosome 12 resulting from a maternal balanced complex rearrangement involving chromosomes 8, 9, and 12. The karyotype of the phenotypically normal mother was 46,XX,t(8;12) (9;12) (8qter→8p23::12q12→12q15::9q32→9qter;9pter→9q32::12q15→12qter;12pter→12q12::8p23→8pter). The child's karyotype was 46,XX,?9,?12, +der(9) (9pter→9q32::12q15→12qter),+rec(12) (12pter→12q15::9q32→9qter) mat. The child had severe growth retardation, minor anomalies including trigonocephaly, hypertelorism, broad nasal root, apparently low-set and posteriorly angulated ears, triangular face, pectus carinatum, clinodactyly of fifth fingers, and almost normal psychomotor development. To the best of our knowledge, there have been only 3 previous reports of recombination derived from parental complex chromosome rearrangements. In the recombination products, the chromosomes were apparently balanced and the offspring had no clinical abnormalities. The present case exhibited abnormalities and may have a submicroscopic aberration of 12q arising from crossing over during maternal meiotic pairing, although her chromosomes appeared to be balanced. © 1993 Wiley-Liss, Inc.     

Isolated unilateral absence of a pulmonary artery: influence of systemic circulation on alveolar capillary vessels

We report a case of isolated unilateral absence of a pulmonary artery. The first clinical symptom that was manifested in the patient was recurrent hemoptysis, and subsequent angiography revealed that the main pulmonary artery was absent in the right lung, which was being fed only from the systemic circulation. Right pneumonectomy was performed, and neither the main pulmonary artery nor its remnant was detected in the resected right lung. Histologically, there were many muscular vessels in the resected lung, with intimal proliferation, or with plexiform-like lesions. The alveolar septum was moderately thickened and alveolar capillary vessels were dilated. We examined the alveolar capillary endothelial cells of the resected lung for immunoreactivity to thrombomodulin (TM) and von Willebrand factor (vWF). The endothelial cells were negative for TM and positive for vWF, while in the normal lung control group, these cells were positive for TM and negative for vWF. We considered that the hemodynamics of the systemic circulation in the resected lung caused the alteration of immunohistochemical characteristics in alveolar capillary endothelial cells.