| Bone-marrow cells from a patient with Bloom's syndrome cultured for 48 h in the presence of BudR exhibited a striking increase in the number of sister chromatid exchanges (SCEs) in comparison to that in the marrow cells of a patient with treated polycythemia vera (PV). Thus, it appears that an increased incidence of SCE in Bloom's syndrome occurs in various differentiated types of cells, not just blood lymphocytes, and constitutes the syndrome's most characteristic cytogenetic feature. In contrast, the incidence of SCE was not increased in marrow cells and lymphocytes of the particular PV patient studied here, whose cells did exhibit increased numbers of chromatid and chromosome gaps and breaks, presumably as result of the patient's earlier treatment. An increased frequency of SCE was demonstrated in Bloom's syndrome lymphocytes using both a technique based on BudR incorporation and one based on labeling with tritated deoxycytidine. This observation constitutes evidence against the increase of SCE being due to an unusual reaction to BudR. By conventional cytogenetic techniques, chromosome instability, including chromatid and chromosome breaks, but no homologous chromatid interchanges were also recognized in Bloom's syndrome bone-marrow cells incubated in vitro (without BudR) for either 1.k or 16 h. This observation points to the existence of chromosome instability in vivo. ( info) |
2/17433. Partial trisomy 9q--chromosomal syndrome. The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case. ( info) |
3/17433. Phenotypic variability in the chromosome 9 ring. The syndrome associated to the 9 ring is not commonly observed. The first remark was by Kistenmacher (1970) who examined a male. Later observation of other cases has allowed the syndrome to be described, so that it can be said to be characterized by constant signs, such as microcephaly, psychomotor retardation of varying entity and facial dysmorphism corresponding to that observed in 9 p monosomy. The variability of the phenotype has to be compared with the entity of the telomeric deletion, since the clinical outlook, especially the entity of retardation, could be less serious in case of small deletions. ( info) |
4/17433. An extrahepatic bile duct metastasis from a gallbladder cancer mimicking Mirizzi's syndrome. We report a case of an extrahepatic bile duct metastasis from a gallbladder cancer that mimicked Mirizzi's syndrome on cholangiography. A 67-yr-old woman was admitted to our hospital with a diagnosis of acute calculous cholecystitis. As obstructive jaundice developed after the admission, percutaneous transhepatic biliary drainage was performed to ameliorate the jaundice and to evaluate the biliary system. Tube cholangiography revealed bile duct obstruction at the hepatic hilus, and extrinsic compression of the lateral aspect of the common hepatic duct, with nonvisualization of the gallbladder. No impacted cystic duct stone was visualized on CT or ultrasonography. laparotomy revealed a gallbladder tumor as well as an extrahepatic bile duct tumor. We diagnosed that the latter was a metastasis from the gallbladder cancer, based on the histopathological features. This case is unique in that the extrahepatic bile duct metastasis obstructed both the common hepatic duct and the cystic duct, giving the appearance of Mirizzi's syndrome on cholangiography. Metastatic bile duct tumors that mimic Mirizzi's syndrome have not been previously reported. The presence of this condition should be suspected in patients with the cholangiographic features of Mirizzi's syndrome, when the CT or ultrasonographic findings fail to demonstrate an impacted cystic duct stone. ( info) |
5/17433. MRI of round ligament leiomyoma associated with Mayer-Rokitansky-Kuster-Hauser syndrome. We report the magnetic resonance appearance of a case of round ligament leiomyoma that presented as a rapid growing inguinal mass in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome. ( info) |
6/17433. Abnormal deposition of type VII collagen in Kindler syndrome. Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease. ( info) |
7/17433. Genetic analysis of three patients with an 18p- syndrome and dystonia. Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors evaluated the extent of the deletion in three patients with an 18p- syndrome and dystonia using 14 dna markers on 18p. A common deleted area, covering the DYT7 locus, places the putative dystonia gene between the telomere of 18p and D18S1104 (49.6 cM). dystonia in these patients may be caused by haploinsufficiency of the DYT7 gene, a new dystonia gene on 18p, or may result from developmental brain anomalies. ( info) |
8/17433. Kindler syndrome: absence of definite ultrastructural feature. Kindler syndrome is characterized by congenital blister formation, photosensitivity, poikiloderma, and cutaneous atrophy in later life. There are few reports about the ultrastructural features of this syndrome, but still there is no consensus about the basic disease. Here we report a case of Kindler syndrome with ultrastructural findings. ( info) |
9/17433. A case of Austrian's syndrome with ocular involvement. A man with a history of alcohol abuse was admitted to hospital with pneumonia and meningitis due to streptococcus pneumoniae. Because of the worsening of respiratory function and the persistence of fever, an echocardiographic examination was made, which showed endocarditis with destruction of the aortic valve. The patient underwent surgical valve replacement. In addition, he showed a choroiditis in the left eye which improved after antibiotic therapy. The interest of this case lies in the rarity of the triad described as Austrian's syndrome and in the coexistent fourth septic localization, namely in the left eye. ( info) |
10/17433. Selective antibody deficiency to bacterial polysaccharide antigens in patients with netherton syndrome. Three patients with netherton syndrome, recurrent sinopulmonary infections, and humoral immune deficiency are described. Although quantitative serum immunoglobulin levels were generally normal, two patients had selective antibody deficiency to bacterial polysaccharide antigens, one associated with IgA-IgG-2 deficiency. A third patient had an antibody deficiency to protein antigens. This is the first report, to our knowledge, that describes antibody deficiency in patients with netherton syndrome. This finding demonstrates the importance of evaluating functional antibody responses to both protein and bacterial polysaccharide antigens and not relying on IgG subclass determination. ( info) |