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In diploid populations of size N, there will be 2 Nmu mutations per nucleotide (nt) site (or per locus) per generation (mu stands for mutation rate). If either the population or the coding genome double in size, one expects 4 Nmu mutations. What is important is not the population size per se but the number of genes (coding sites), the two being often interconverted. Here we compared the total phys
Thirty-six patients (pts.) with thrombotic thrombocytopenic purpura (TTP) were treated between May 1990 and May 2003. There were 31 women and 5 men; the average age was 37 years. Twenty-five cases were idiopathic and 11 secondary (3 infection--related, 5 occurred during pregnancy and 3 were drug--associated). The mean lag period between the first symptoms and the diagnosis was 8.5 days (in 14 pts.
Cytogenetic analysis has proven to be a mandatory part of the diagnosis of myelodysplastic syndromes (MDS) as well as a major indicator for predicting clinical course and outcome. Aside from the 5q-syndrome, no specific clinico-cytogenetic entity has been reported. To determine the incidence and clinical significance of acquired abnormalities of chromosome 17 in adult primary MDS, we reviewed the
A transformation of essential thrombocythemia to acute myelocytic leukemia (AML), myelodysplastic syndrome, or agnogenic myelocytic metaplasia is a relatively rare event. It occurs in 1%-4.5% of all patients with either treated or untreated essential thrombocythemia. Cytogenetic changes in the transformation to AML are common. We report the case of a patient treated for essential thrombocythemia w
We estimated the number of different human genes by relating the patterns of spontaneous mutation at the population and individual level. A geometric distribution model of mutation was used in which the average rates of nucleotide replacement (P) and mutation at a locus (p), obtained by experiment, were used to determine the estimate of the physical size of the coding genome (n) in man. The probab
A patient with a myelodysplastic syndrome ([MDS], i.e., refractory anemia with ring sideroblasts [RARS]) and a rapidly fatal clinical course is presented. A cytogenetic analysis showed an isochromosome 17q as a sole abnormality in all metaphases. An association between RARS and i(17q) has not been reported. Furthermore, a mutation of the remaining TP53 gene in exon 6 was evidenced by a single stra
A variety of normal human tissues have been reported to harbor small cell populations carrying potentially oncogenic gene rearrangements. This backdrop of mutant cells may be present in the majority of healthy individuals and is apparently weakly selected against. This may provide empirical support for the concept of global neutrality, or near-neutrality (very weak selection), of many somatic muta
Primary plasmacytoma of the lung is a rare tumor, thus presenting a diagnostic challenge to the clinician. So far, approximately 20 cases have been verified by immunohistochemistry. We describe an elderly patient presenting with progressive dyspnea on exertion, dry cough, weight loss and malaise. The main finding on plain chest radiography was a diffuse infiltration of pulmonary parenchyma in the
Hepatosplenic candidiasis following granulocytopenic periods is a relatively recently recognised problem in immunocompromised patients, particularly in those with acute leukaemia. We present three patients in whom diagnosis of hepatosplenic candidiasis was suspected on the basis of ultrasonographic (US), computed tomographic (CT) findings and confirmed by laparoscopy and biopsy of liver lesions. A
We describe here a 72-year-old female patient with an acute megakaryoblastic leukaemia (M7 by FAB Classification) and systemic lupus erythematosus (SLE). The patient had not been pretreated with immunosuppressive therapy, which is potentially leukaemogenic. The karyotype displayed multiple, structural and numerical anomalies, suggesting a possible de novo rather than a secondary nature of leukaemi
A case of Burkitt-like blast crisis in a patient with chronic myelocytic leukaemia (CML) is presented. To our knowledge, this is the first such case recorded to date. The patient had a useful response to combination chemotherapy.
Although pharmacological treatments can help alleviate mood symptoms in youth with paediatric bipolar disorder (PBD), residual symptoms still commonly persist. In many cases, these symptoms seriously affect the social and psychological development of children and adolescents suffering from PBD. Complementary interventions, such as psychosocial and psychoeducational treatments, can help children an
The timings of historical fertility transitions in different regions are well understood by demographers, but much less is known regarding their specific features and causes. In the study reported in this paper, we used longitudinal micro-level data for five local populations in Europe and North America to analyse the relationship between socio-economic status and fertility during the fertility tr
Savannah regions are predicted to undergo changes in precipitation patterns according to current climate change projections. This change will affect leaf phenology, which controls net primary productivity. It is of importance to study this since savannahs play an important role in the global carbon cycle due to their areal coverage and can have an effect on the food security in regions that depend
