The t(2;5)(p23;q35) was detected in 9 of the 18 cases of large-cell lymphoma with an abnormal karyotype among 115 children with large-cell lymphoma treated at St Jude Children's Research Hospital ...from 1975 to 1993. When the cases containing the t(2;5) were classified according to the National Cancer Institute Working Formulation, 7 were large-cell, immunoblastic and 2 were diffuse large cell; according to the Kiel classification system, 6 were anaplastic large cell, 2 immunoblastic, and 1 centroblastic. CD30 expression was documented in 6 of 8 cases tested. All patients had nodal disease and 6 had extranodal involvement (bone in 4 cases and skin in 3). Eight of nine had advanced disease at diagnosis (stage Ill in 7 and stage IV in 1). Complete remission (CR) was attained in all patients and 6 remain in first CR for 19+ to 97+ months. Three relapsed, but successfully obtained second remissions; 2 are 58+ and 80+ months after retrieval therapy for local recurrences, and 1 patient died of recurrent disease. The t(2;5)(p23;q35) is associated with, but not limited to, anaplastic histology, a CD30+ T-cell phenotype, advanced stage disease with nodal (+/- extranodal) involvement, and chemosensitivity at diagnosis and relapse.
Abstract Thoracic endovascular aortic repair, a minimally invasive technique is replacing the maximally invasive gold standard of thoracotomy and replacement of the descending thoracic aorta. With ...experience, indications have expanded to encroach on the arch and even ascending aorta. This review highlights the current state of technology, discusses controversies, and takes the perspective of a forward-thinking review to describe novel, innovative techniques that might make the entire thoracic aorta amenable to minimally invasive repair.
The pyruvate dehydrogenase (PDH) complex converts pyruvate to acetyl CoA, an essential step in aerobic glucose metabolism. We have previously shown that the gene for the E1 alpha subunit of this ...complex, expressed in somatic tissues, is located on band p22.1 of the human X chromosome. This gene, PDHA1, contains 10 introns and spans approximately 17 kb. An autosomal locus, PDHA2, showing significant cross-hybridization with a PDH E1 alpha cDNA probe, was detected on chromosome 4, in the region q22-q23. We here report the isolation of human testis-specific PDH E1 alpha cDNA clones. The similarity with the X chromosome-linked cDNA coding sequence at the nucleotide level is 84%. Specific amplification using the polymerase chain reaction confirmed the presence of a testis-specific mRNA and indicated that postmeiotic spermatogenic cells express this subunit. In situ hybridization with a unique probe from the 3' untranslated region of the testis-specific cDNA showed that the gene for this form of PDH E1 alpha is localized on chromosome 4 in the region q22-q23. The autosomal human gene was isolated from a chromosome 4-specific genomic library. The transcribed region of this gene is identical to the testis-specific cDNA sequence. It completely lacks introns and possesses characteristics of a functional processed gene.
Circadian clocks and metabolism are inextricably intertwined, where central and hepatic circadian clocks coordinate metabolic events in response to light-dark and sleep-wake cycles. We reveal an ...additional key element involved in maintaining host circadian rhythms, the gut microbiome. Despite persistence of light-dark signals, germ-free mice fed low or high-fat diets exhibit markedly impaired central and hepatic circadian clock gene expression and do not gain weight compared to conventionally raised counterparts. Examination of gut microbiota in conventionally raised mice showed differential diurnal variation in microbial structure and function dependent upon dietary composition. Additionally, specific microbial metabolites induced under low- or high-fat feeding, particularly short-chain fatty acids, but not hydrogen sulfide, directly modulate circadian clock gene expression within hepatocytes. These results underscore the ability of microbially derived metabolites to regulate or modify central and hepatic circadian rhythm and host metabolic function, the latter following intake of a Westernized diet.
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•Diurnal variations in gut microbes and function are driven by dietary and host cues•High-fat diets disturb diurnal patterns of gut microbial structure and function•Microbial metabolite oscillations are linked to host circadian rhythm and metabolism•Disturbances of host-microbe circadian networks may promote diet-induced obesity
Circadian rhythm influences health and metabolism. Leone et al. show that the gut microbiota exhibits diurnal oscillations in composition and metabolite production that are driven by diet and associated with the host circadian rhythm. Diet-induced dysbiosis disturbs the balance between microbe and host circadian networks, affecting metabolism and obesity.
Sixteen males and two females with symmetrical (mild) type of chondrodysplasia punctata were tested for mutations in the X chromosome located arylsulphatase D and E genes. We identified one nonsense ...and two missense mutations in the arylsulphatase E gene in three males. No mutations were detected in the arylsulphatase D gene. Family studies showed segregation of the mutant genes establishing X linked inheritance for these families. Asymptomatic females and males were found in these studies. The clinical presentation varies not only between unrelated affected males, but also between affected males within the same family. We also conclude that clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Finally, our results indicate that brachytelephalangy is not necessarily a feature of X linked symmetrical chondrodysplasia punctata.
Three principal granite provinces are defined across SE Asia, as follows. (1) The Western Thailand-Myanmar/Burma province consists of hornblende-biotite I-type granodiorite-granites and felsic ...biotite-K-feldspar (± garnet ± tourmaline) granites associated with abundant tin mineralization in greisen-type veins. New ion microprobe U-Pb dating results from Phuket Island show zircon core ages of 212 ± 2 and 214 ± 2 Ma and a thermal overprint with rims of 81.2 ± 1.2 and 85-75 Ma. (2) The North Thailand-West Malaya Main Range province has mainly S-type biotite granites and abundant tin mineralization resulting from crustal thickening following collision of the Sibumasu plate with Indochina during the Mid-Triassic. Biotite granites around Kuala Lumpur contain extremely U-rich zircons (up to 38000 ppm) that yield ages of 215 ± 7 and 210 ± 7 Ma. (3) The East Malaya province consists of dominantly Permian-Triassic I-type hornblende-biotite granites but with subordinate S-type plutons and A-type syenite-gabbros. Biotite-K-feldspar granites from Tioman Island off the east coast of Malaysia also yield a zircon age of 80 ± 1 Ma, showing Cretaceous magmatism in common with province 1. Geological and U-Pb geochronological data suggest that two east-dipping (in present-day coordinates) subduction zones are required during the Triassic, one along the Bentong-Raub Palaeo-Tethyan suture, and the other west of the Phuket-Burma province 1 belt. SUPPLEMENTARY MATERIAL: A full description of U-Pb analytical methods used and data tables are available at www.geolsoc.org.uk/SUP18523.
Nuclear lamina and matrices were prepared from sperm pronuclei assembled in Xenopus egg extracts using a fractionation and extraction procedure. Indirect immunofluorescence revealed that while ...chromatin was efficiently removed from nuclei during the extraction procedure, the distribution of lamins was unaffected. Consistent with this data, the amount of lamin B3, determined by immunoblotting, was not affected through the extraction procedure. Nuclear matrices were visualised in DGD sections by TEM. Within these sections filaments were observed both at the boundary of the nucleus (the lamina) and within the body of the nucleus (internal nuclear matrix filaments). To improve resolution, nuclear matrices were also prepared as whole mounts and viewed using field emission in lens scanning electron microscopy (FEISEM). This technique revealed two distinct networks of filaments. Filaments lying at the surface of nuclear matrices interconnected nuclear pores. These filaments were readily labelled with monoclonal anti-lamin B3 antibodies. Filaments lying within the body of the nuclear matrix were highly branched but were not readily labelled with antilamin B3 antibodies. Nuclear matrices were also prepared from sperm pronuclei assembled in lamin B3 depleted extracts. Using FEISEM, filaments were also detected in these preparations. However, these filaments were poorly organised and often appeared to aggregate. To confirm these results nuclear matrices were also observed as whole mounts using TEM. Nuclear matrices prepared from control nuclei contained a dense array of interconnected filaments. Many (but not all) of these filaments were labelled with anti-lamin B3 antibodies. In contrast, nuclear matrices prepared from "lamin depleted nuclei' contained poorly organised or aggregated filaments which were not specifically labelled with anti-lamin B3 antibodies.
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