Occurrence of the t(2;5)(p23;q35) in non-Hodgkin's lymphoma

Primary CD30(Ki-1)-positive anaplastic large-cell lymphoma (ALCL) is considered by some to be a distinct clinicopathologic entity associated with the t(2;5) (p23;q35). However, the specificity of t(2;5) for ALCL has not been carefully studied. Therefore, we performed a detailed analysis of all cases of ALCL with abnormal cytogenetics results in the Nebraska Lymphoma Study Group registry, as well as all other cases of non-Hodgkin's lymphoma with t(2;5) in the registry. We found the t(2;5) in only five of 10 cases of ALCL, four of whom were young patients. However, we also found the t(2;5) in 11 other cases of nonanaplastic lymphoma, including eight children with typical peripheral T-cell lymphomas of various types. The t(2;5) was also found in three older adults with B-cell lymphomas of various types. Thus, the t(2;5) was not specific for CD30+ ALCL. However, t(2;5) may define a clinicopathologic entity in children and young adults characterized by variable morphologies with a T-cell or indeterminate phenotype, CD30-positivity, nodal disease with frequent extranodal involvement, advanced stage, and an excellent response to therapy, including bone marrow transplantation for relapsed disease. The clinical relevance of the t(2;5) in older patients requires further study.     

Diagnosis and treatment of nonodontogenic epithelial cysts. Apropos of 14 cases collected from the Oral Surgery Service of the University Hospital Center of Fann]

Non odontogenic epithelial cyst, again called fissurary cyst, are dysembryophasic cyst of maxillary, they are born throughout the sutures line of faces. Their diagnosis is raising again association of clinic symptom, especially complementary examination and in particular dental vitality test. Their treatment is surgical. Around 14 cysts fissurary have been recorded in a seven-year period.     

Hemorrhagic and nonhemorrhagic brain lesions: evaluation with 0.35-T fast MR imaging

Two fast magnetic resonance (MR) imaging techniques, advanced Fourier and partial-flip imaging, were used at 0.35 T to examine 21 patients with suspected intracranial lesions; the results were quantitatively compared with a conventional spin-echo study. Both of the fast MR techniques yielded a fourfold reduction in imaging time per section. The advanced Fourier sequence showed contrast that was identical to the conventional spin-echo study with signal-to-noise ratios of 58% and 57% for the first and second echoes, respectively. The partial-flip sequence showed a contrast of 109% and 57% for lesions versus substantia alba, and 107% and 78% for substantia grisea versus substantia alba relative to the first and second echoes of the conventional spin-echo study. The partial-flip sequence was particularly sensitive to magnetic susceptibility; this produced artifacts that may undermine the usefulness of partial flip for routine screening in certain parts of the brain. However, this susceptibility significantly improved the detection of intracranial hemorrhage when compared with the spin-echo sequence, particularly when combined with phase mapping of the partial-flip study.     

Variations in the calcaneo-fibular ligament (lig. calcaneofibulare). Application to the kinematics of the ankle

The authors observe variations in the calcaneo-fibular ligament because this ligament controls two articulations, the talo-crural and the subtalar. This study is based on the dissection of the ankle of 20 specimens. The calcaneo-fibular ligament is reinforced by the ventral and lateral talo-calcaneus ligaments with variations. 3 types of disposition have been described. Type A: A lateral talo-calcaneal ligament reinforces the calcaneo-fibular ligament. These two ligaments are divergent on the proximal, medial, or distal part. Type B: There is an independent lateral talo-calcaneal ligament forward of the calcaneo-fibular ligament. Type C: A ventral talo-calcaneal ligament is observed, parallel to the interosseous ligament. The authors consider the consequences of variation in the lateral ligaments of the ankle for the functioning of the tibio-tarsal articulation, the subtalar articulation and the astragalo-scaphoid articulation in order to propose specific radiographic examination of the kinematics of the ankle.     

Molecular evolution of human immunodeficiency virus type 1 subtype A in Senegal: 1988-1997

OBJECTIVE: Few studies have been able to track the genetic diversity of HIV-1 viruses in human populations over time. We analyzed the molecular evolution of subtype A over a 10-year period, in a cohort of female sex workers with a known time of infection. STUDY DESIGN/METHODS: We amplified and sequenced the C2-V3 region of the surface envelope glycoprotein from 73 HIV-1-infected women, infected between 1987-1997. RESULTS: Fifty-one patients were infected by subtype A viruses. The viruses demonstrated significant diversification (p < 0.001) with mean genetic distance increasing from 8.6% in 1989 to 15.9% in 1997. The slope of the fitted curve suggested a rate of diversification of 0.7% per year. The majority of subtype A viruses clustered with HIV-1 subtype A/G recombinant form (IbNG). CONCLUSION: The genetic diversity of HIV-1 subtype A infections doubled over the first 10 years of this high risk population's epidemic, suggesting that implementation of vaccines early in the epidemic may have a higher likelihood of success based on levels of genetic diversity. The A/G recombinant form (IbNG) has taken epidemic proportions in West Africa. This is of particular importance in understanding the epidemiology of HIV-1 subtypes in Africa and to further dissect the potential phenotypic and biological characteristics of these viruses.     

Cadaveric topography and morphometry of the vermiform appendix

Our study justified by the frequency of acute appendicitis and the possibility of anatomic variations of the caecoappendicular area attempt to index the topographic variations of the vermiform appendix (v.a.). On 80 fresh native cadavers (62 men and 18 women) without surgical antecedent whose mean age was 36 years (range between 16 and 78 years) we note the morphotype and the height. More over we study the intraperitoneal projection of the Mac Burney point, topography and shape of the cecum and the situation, shape and dimensions of the v.a. We note also the level of implantation of this latter on the cecum, appearance of the mesoappendix and the distance separating the base of the appendix to the ileo-caecal junction. Mac Burney's point permitted to localize appendix in 66%; the cecum has more often than not the form of a bulb (98.7%) and sited in right fossa iliaca. We noted 7 types of topographic disposition; front varieties were more frequent (68.7%) notably the pelvic direction (51.2%) with a medial (72.5%) or a posteromedial (27.5%) establishment on the cecum. The v.a. was more often in the form of worm with a long mesoappendix; his mean length was 106.4 mm (between 65 and 160 mm) and the mean diameter 6.77 mm (range between 4 and 10 mm). The distance which separated the base of the appendix to the ileo-cecal junction varied between 15 to 40 mm with a mean distance of 24.2 mm. Thus in this study, dimensions of the v.a. were very variables. Located in right fossa iliaca he adopted a front topography with pelvic direction and medial establishment on bulbar cecum. In spite of scarcity of ectopic situation of the appendix for which laparoscopic approach is salutary, a similar topographic study during surgical treatment of acute appendicitis will be interesting.     

Genetic linkage of the tricho-dento-osseous syndrome to chromosome 17q21

Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blood group locus, but the gene defect remains unknown. We have identified four multiplex families (n = 63, 39 affected, 24 unaffected) from North Carolina segregating TDO. We previously have excluded a major locus for TDO in the ABO region for these families. Utilizing a genome-wide search strategy, we obtained conclusive evidence for linkage of the TDO syndrome locus to markers on chromosome 17q21 (D17S791, Z max = 10.54, Theta = 0.00) with no indication of genetic heterogeneity. Multipoint analysis suggests the TDO locus is located in a 7 cM chromosomal segment flanked by D17S932 and D17S941. This finding represents the first step towards isolation and cloning of the TDO gene. Identification of this gene has important implications for understanding normal and abnormal craniofacial development of hair, teeth and bone.      

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

The Bethlem myopathy is a rare autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures. Evidence for linkage and genetic heterogeneity has been established, with the majority of families linked to 21q22.3 and one large family linked to 2q37, implicating the three type VI collagen subunit genes, COL6A1 (chromosome 21), COL6A2 (chromosome 21) and COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-coding region of COL6A1 and COL6A2 have been reported previously in the chromosome 21-linked families. We report here the identification of a G-->A mutation in the N-terminal globular domain-coding region of COL6A3 in a large American pedigree (19 affected, 12 unaffected), leading to the substitution of glycine by glutamic acid in the N2 motif, which is homologous to the type A domains of the von Willebrand factor. This mutation segregated to all affected family members, to no unaffected family members, and was not identified in 338 unrelated Caucasian control chromosomes. Thus mutations in either the triple-helical domain or the globular domain of type VI collagen appear to cause Bethlem myopathy.