Isochromosome 18q in a girl with holoprosencephaly,DiGeorge anomaly,and streak ovaries

We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley-Liss, Inc.     

Primary brain stem lesions caused by closed head injuries

Traumatic lesions of the brain stem are of two types: primary, which are considered to be caused at the moment of impact, and secondary, associated with supratentorial mass lesion. Of the 239 patients with a serious head injury who showed a severe disturbance of consciousness upon admisision and who had CT scan carried out immediately, 21 cases were considered to have a primary brain stem lesion with initial CT scan. A primary brain stem lesion was found in 21 of 239 (8.8%) of patients with serious head injury. Their injuries were caused primarily by traffic accidents. Sixteen of the 21 cases showed not only brain stem lesions but also other brain injuries such as cerebral contusion of the white and gray matter, callosal injury, intraventricular hemorrhage, and subarachnoid hemorrhage, which are considered to be caused by a diffuse shearing injury. Five cases who showed a single injury to the brain stem with no other brain lesions were considered to have a pure brain stem lesion. Primary brain stem lesions were observed on the dorsal side of the midbrain, where they can be differentiated from secondary brain stem lesions. These lesions are considered to result from the shearing mechanism in and around the brain stem very close to the tentorial edge, or to an injury of the lower brain stem by hyperextension of the cervical vertebrae. The prognosis of patients with a primary brain stem lesion was usually unfavorable, except in those with a single brain stem lesion.     

Degree of Somatoform and Psychological Dissociation in Dissociative Disorder Is Correlated with Reported Trauma

In this study, the prevalence and severity of traumatic experiences as reported by patients with dissociative disorders and with other DSM-IV psychiatric diagnoses were compared. Furthermore, the predictive value of emotional, physical, and sexual trauma with respect to somatoform and psychological dissociation was analyzed. In contrast with comparison patients, dissociative disorder patients reported severe and multifaceted traumatization. Physical and sexual trauma predicted somatoform dissociation, sexual trauma predicted psychological dissociation as well. According to the memories of the dissociative disorder patients, this abuse occurred in an emotionally neglectful and abusive social context. Pathological dissociation was best predicted by early onset of reported intense, chronic and multiple traumatization. Methodological limitations restricting causal inferences between reported trauma and dissociation are discussed.     

Biological characteristics of newly diagnosed poor prognosis acute myelogenous leukemia

A pilot study was conducted of the biological characteristics of the leukemia cells of newly diagnosed patients with poor prognosis acute myelogenous leukemia (AML). This study included measurements of the pretherapy proliferative rate of the leukemia cells in vivo, assessment of differentiation in vivo during remission induction therapy, and the level of expression of the fms, myc, and IL1β genes in pretherapy leukemia cells. Short cell cycle times were characteristic of the best prognostic category and were associated with a rapid reduction in marrow leukemia cells in cytosine arabinoside (araC)-sensitive patients. Expression of c-fms was associated with rapid reduction in marrow leukemia cells during araC therapy and with a successful treatment outcome. Expression of the IL1β gene was associated with short remissions. These studies suggest that when compared to newly diagnosed standard prognosis AML, the leukemia of poor prognosis patients is more likely to exhibit long cell cycle times, low levels of fms expression, and is less likely to be associated with myeloid differentiation during remission induction therapy. © 1993 Wiley-Liss, Inc.     

INVOLVEMENT OF PHOSPHOPROTEIN PHOSPHATASE 1 IN COLLAGEN-PLATELET INTERACTION

The binding of type I collagen to its receptor initiates platelet aggregation, but the relationship of the receptor to other signal transduction components is not yet established. Correlation of platelet aggregation and anti-type I collagen receptor antibody immunoprecipitation of type I collagen treated [³²PO4]-labeled platelets showed that there are two phosphoproteins (M_r 53 kDa and 21 kDa) that coprecipitated with the 65 kDa platelet type I collagen receptor. In the present investigation, we have identified one of the phosphoproteins. A soluble component the 100,000×g supernatant fraction of 53 kDa protein is recognized by polyclonal anti-PP1 antibody. The activity of the precipitated phosphatase is inhibited by okadaic acid and inhibitor 1, suggesting that it is protein phosphatase 1 (PP 1). Phosphorylation decreases PP 1 activity as was found with [³²PO4]-phosphorylase b as the substrate. The immunocoprecipitation of the type-1 collagen receptor and PP 1 inot the result of cross reactivity of the anti-type I collagen receptor antibody with the PP I protein. These results indicate that the platelet type I collagen receptor, PP 1, and unidentified 21 kDa protein are in close association with the platelet type I collagen receptor upon the binding of type I collagen by the receptor. Copyright © 1996 Elsevier Science Ltd