Spontaneous resolution of prenatally diagnosed dural sinus thrombosis: a case report.

Fetal thrombosis of the dural sinus is an extremely rare congenital cerebrovascular condition that is potentially fatal. We report a case of dural sinus thrombosis diagnosed by prenatal ultrasonography and fetal magnetic resonance imaging (MRI) in the second trimester. The thrombosis showed partial resolution during pregnancy and resolved spontaneously after birth without neurological complications. This is the first report of spontaneous postnatal resolution, and may provide helpful information on the natural history and prenatal counseling of fetal thrombosis of the dural sinus.     

Phenotypic variability of a distinct deletion in McLeod syndrome

The X‐linked McLeod neuroacanthocytosis syndrome strongly resembles Huntington's disease and has been reported in various countries world‐wide. Herein, we report two Chilean brothers with predominant psychiatric features at disease onset including schizophrenia‐like psychosis and obsessive compulsive disorder. Molecular genetic analysis revealed a small deletion in the XK gene (938‐942delCTCTA), which has been already described in a North American patient of Anglo‐Saxon descent and a Japanese family, presenting with seizures, muscle atrophy or chorea yet absence of psychiatric features. These findings argue against a founder effect and indicate a profound phenotypic variability associated with the 938‐942delCTCTA deletion. Our report supports the inclusion of McLeod syndrome in the differential diagnosis of Huntington's disease as well as acute psychosis in male subjects. © 2007 Movement Disorder Society     

Thymidine labeling index in breast tumors

The relationship between primary tumor proliferative activity and clinical and pathologic characteristics was analyzed in relation to menopausal status in 32 patients with malignant or benign breast disease. The thymidine labeling index (TLI) showed significantly higher median values in the cancer patients (3.48 per cent) than in the patients with benign diseases (1.02 per cent). TLI was not significantly affected by delayed incubation at room temperature for about 1 hour. In the breast cancer patients, TLI did not significantly correlate to tumor size, the presence of axillary lymph node metastasis or pathologic nuclear grading. The only significant difference was limited to the breast cancer patients without axillary lymph node metastasis in relation to menopausal status; the TLI in the premenopausal patients (5.10 per cent) was significantly higher (p<0.05) than that in the postmenopausal patients (2.28 per cent). These data thus suggest that among premenopausal patients without axillary lymph node metastasis, those with a high TLI could be potential candidates for adjuvant chemotherapy.     

Synthesis and thermal properties of poly(arylene-1,2,4-oxadiazole)s with flexible,linear alkoxymethyl side branches

Poly(arylene-1,2,4-oxadiazole)s (PAOs) bearing flexible, linear side chains, 3a - c , were prepared by solution cyclodehydration of their precursors, poly(arylene acyloylamide oxime)s (PAAs), 2a - c , which were synthesized by solution polycondensation of 2,5-bis(n-alkoxymethyl)-terephthaldiamide oximes (DIS-TADO), 1a - c , with terephthaloyl dichloride (TPC). The length of the n-alkoxy group was varied from methoxy via butoxy to octyloxy. The reduction of the phase transition temperatures and the enhancement of the solubilities of 3a - c were greatly affected by the length of the side chains. PAOs with longer side chains, 3b and 3c , are nematic type liquid-crystalline polymers.     

45,X/46,X dic (Y) mosaicism in a phenotypic male.

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan''s syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.