Fertility sparing management of uterine adenosarcoma: Case report and literature review.

Adenosarcoma is an extremely rare malignancy of the female genital tract composed of stromal sarcoma with a benign epithelial component. Current treatment recommendations include total hysterectomy with bilateral salpingo-oophorectomy, precluding future fertility. Although most frequently diagnosed in postmenopausal women, it is occasionally present in younger women of reproductive age with desire for future fertility. In 2015, we reported the case of a 23-year-old patient diagnosed with uterine adenosarcoma, who having strong desire of future fertility, opted for fertility sparing surgery. At a follow-up five years later, we can now report her case of spontaneous pregnancy and livebirth. A review of the literature concerning fertility outcomes in patients with uterine adenosarcoma undergoing fertility sparing therapeutic options is presented.

Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?

The carbohydrate-deficient glycoprotein syndrome (CDGS) is a developmental disease associated with an abnormally high isoelectric point of serum transferrin. Carbohydrate analyses of this glycoprotein initially suggested a defect in N-linked oligosaccharide processing, although more recent studies indicate a defect in the attachment of these sugar chains to the protein. We studied both serum glycoproteins and fibroblast-derived [2-3H]mannose-labeled oligosaccharides from CDGS patients and normal controls. While there was a decrease in the glycosylation of serum glycoproteins of affected individuals, differences were not seen in either monosaccharide composition or oligosaccharide structures. The lectin-binding profiles of glycopeptides from [2-3H]-mannose-labeled fibroblasts were likewise indistinguishable. However, the incorporation of [2-3H]mannose into both glycoproteins and the dolichol-linked oligosaccharide precursor was significantly reduced. Thus, at least in some patients, CDGS is not due to a defect in processing of N-linked oligosaccharides, but rather to defective synthesis and transfer of nascent dolichol-linked oligosaccharide precursors. This abnormality could result in both a failure to glycosylate some sites on some proteins, as well as secondary abnormalities in overall glycoprotein processing and/or function.

A monoclonal antibody that induces neuronal apoptosis binds a metastasis marker.

The cell surface molecules controlling apoptosis in cortical neurons are largely unknown. A monoclonal antibody was derived that induces cultured neocortical neurons to undergo apoptosis. A Fab fragment of the antibody, however, lacked the ability to induce cell death. The antigen was purified, and characterized by compositional analysis, fast atom bombardment (FAB) mass spectrometry, sequential exoglycosidase treatments, methylation analysis, and (1)H-nuclear magnetic resonance spectroscopy, proving to be isoglobotetraosylceramide (IsoGb4). IsoGb4 has been shown previously to be a metastasis marker, antibodies against which block metastases in a mammary adenocarcinoma model (S. A. Carlsen et al., Cancer Res., 53: 2906-2911, 1993). Addition of the purified antigen to cells lacking this glycolipid demonstrated that it is capable of functioning as a portable apoptosis-transducing molecule. Intracellular ceramide levels were increased after the treatment with the apoptosis-inducing antibody, but the membrane sphingomyelin level remained unchanged. Fumonisin B1 inhibited both the ceramide increase and the apoptosis induced via IsoGb4, which indicated that the ceramide synthase pathway is likely to be involved in apoptosis induction by IsoGb4.

The Drosophila melanogaster lipase homologs: a gene family with tissue and developmental specific expression.

We report the molecular cloning of Drosophila genes encoding putative lipase homologs, Dm lip1, lip2 and lip3, the definition of their structure and the expression patterns during development. These Drosophila lipases are related to acid lipases, with a common GHSQG motif, within a more general consensus GXSXG, identified as the active site shared by all the members of lipase superfamily. The lip1 and lip3 genes are transcribed in different tissues and developmental stages, suggesting that they have different functions. The lip1 gene, coding for a protein similar to digestive lipases, is expressed in ovaries and early embryos and, with a different sized transcript, in all the other developmental stages. The lip3 gene, whose translation product is more similar to lysosomal acid lipases, is expressed only during the larval period. The lip2 gene seems non-functional. The Drosophila putative lipases do not show similarity with the Drosophila yolk proteins that are reported to have sequence similarity with lipoprotein lipases, but share a consistent similarity with lepidopteran proteins reported as egg specific or yolk proteins, probably corresponding to lipase homologs. The results reported here are discussed in relation to the evolution and functions of lipases within the between species.

The abnormal oocyte phenotype is correlated with the presence of blood transposon in Drosophila melanogaster.

The abnormal oocyte mutation (2;44) originates in the wild: it confers no visible phenotype on homozygous abo males or females, but homozygous abo females produce defective eggs and the probability of their developing into adults is much lower than that of heterozygous sister females. We isolated by chromosome walking 200 kb of DNA from region 32. This paper reports that a restriction enzyme site polymorphism analysis in wild type and mutant stocks allowed us to identify a DNA rearrangement present only in stocks carrying the abo mutation. The rearrangement is caused by a DNA insert on the abo chromosome in region 32E which, by restriction map and sequence analysis, was identified as copia-like blood transposon. The transposon, in strains that had remained in abo homozygous conditions for several generations and had lost the abo maternal-effect, was no longer present in region 32E. Certain features of the abo mutation, discussed in the light of this finding, may be ascribed to the nature of the particular allele studied.

Maternal and Zygotic Interactions between the Abnormal Oocyte Mutation and the Scute Inversion in DROSOPHILA MELANOGASTER.

The authors have studied the interaction between the abnormal oocyte mutation and an inversion of the X chromosome, In( 1)sc(4), which has a proximal breakpoint in or near the heterochromatic region (ABO) that maternally interacts with the abo product. It has been demonstrated that the presence of X chromosomes carrying this inversion, besides a marked increase in the severity of the maternal effect of the abo mutation, produces a zygotic effect resulting in the lethality of the progeny of stocks homozygous for abo and sc(4). These results indicate that the sc(4) inversion carries an abnormal region indispensable for the development of abo zygotes from sc(4);abo mothers.

hold up is required for establishment of oocyte positioning, follicle cell fate and egg polarity and cooperates with Egfr during Drosophila oogenesis.

In Drosophila the posterior positioning of the oocyte within the germline cluster defines the initial asymmetry during oogenesis. From this early event, specification of both body axes is controlled through reciprocal signaling between germline and soma. Here it is shown that the mutation hold up (hup) affects oocyte positioning in the egg chamber, follicle cell fate and localization of different markers in the growing oocytes. This occurs not only in dicephalic egg chambers, but also in oocytes normally located at the posterior. Generation of mosaic egg chambers indicates that hup has to be at least somatically required. Possible interactions of hup with Egfr, the Drosophila epidermal growth factor receptor homolog, have been investigated in homozygous double mutants constructed by recombination. Stronger new ovarian phenotypes have been obtained, the most striking being accumulation of follicle cells in multiple layers posteriorly to the oocyte. It is proposed that the hup gene product is a component of the molecular machinery that leads to the establishment of polarity both in follicle cell layer and oocyte, acting in the same or in a parallel pathway of Egfr.

Female sterile mutations and egg chamber development in Drosophila melanogaster.

Drosophila oogenesis provides an excellent opportunity to study fundamental aspects of developmental biology and to learn the importance of multiple signalling pathways in the regulation of cellular morphogenesis. Taking advantage of the genetic and molecular approaches extremely powerful in this organism, over the years an enormous collection of data has accumulated on the genes involved in important steps of egg chamber development, such as germline and somatic stem cell maintenance, division and differentiation; oocyte determination and positioning; establishment of follicle cell fate and axes formation. These different processes are mediated by a reciprocal cross-talk between germline and somatic follicle cells. Here, in a schematic and simplified form, we point out what we believe are the main recent results on the molecular and cellular mechanisms underlying ovarian development and outline our recent contribution to this field.

Synthesis and expression of genes encoding putative insect neuropeptide precursors in tobacco.

Neuropeptides are the key molecules in a multiplicity of physiological processes and their use in pest control has recently been suggested. Most neuropeptides are produced in the form of a precursor that is cleaved by proteolysis to yield various biologically active peptides. To mimic this structure, a method has been developed for synthesizing genes that code for putative polyneuropeptide precursors. As a model neuropeptide, the 5-amino-acid proctolin, one of the best studied invertebrate neuropeptides, functioning both as a visceral and a skeletal neuromuscular transmitter, was chosen. The synthetic gene was introduced into bacteria and tobacco plants, where it was efficiently transcribed. We present our results as a possible approach for the expression, in a variety of organisms, of synthetic genes coding for a wide repertoire of insect neuropeptides.

Characterization of Aphidius ervi (Hymenoptera, Braconidae) ribosomal genes and identification of site-specific insertion elements belonging to the non-LTR retrotransposon family.

We performed a molecular analysis of the Aphidius ervi ribosomal gene structure. This insect belongs to a set of closely related Aphidiinae species of the genus Aphidius Nees, of relevant interest in biological control. We constructed A. ervi genomic libraries, cloned and characterized several rDNA repeating units and sequenced different regions of the rDNA cistrons. We have found that insertion sequences interrupt the A. ervi 28S rDNA genes: the sequences of the two 5' and 3' insertion-28S junctions show that the elements are present at the position where R1 elements have been found in various insect species. In addition, the insertion of the element produces a duplication of the 14 nt target region. The sequence analysis indicates that the A. ervi elements belong to the R1 retrotransposon family with a highly conserved reverse transcriptase domain.

[Nephropexy using the Aglietti procedure. Case reports]. / La nefropessi secondo il procedimento di Aglietti. Contributo casistico.

The paper reports two cases of 3rd degree nephroptosis which were treated surgically using the technique described by Prof. Aglietti. Both cases were women suffering from associated pathologies. The need to distinguish between symptoms related to renal ptosis and those caused by different disorders required an accurate clinical and instrumental study to be performed in both patients. Only after the concomitant pathologies had been treated could the patients undergo nephropexy. The paper gives a brief description of the technique. The authors discuss the indications for surgery and analyse the results.

[Ogilvie syndrome. 2 clinical case reports]. / La sindrome di Ogilvie. Osservazioni su due casi clinici.

Acute pseudo-obstruction of the colon is an uncommon syndrome usually related to other diseases. Two patients with this syndrome are described. It is stressed that it is of paramount importance to recognize this syndrome as a high mortality is present in these patients if they are not treated in a right fashion. The treatment doesn't require surgery unless a complication, like cecum perforation, doesn't appear.

[Benign lesions of the thyroid. Clinical methodology++ and therapeutic management in our personal experience]. / Le affezioni benigne della tiroide. Metodologia clinica e tattica terapeutica nella nostra esperienza personale.

Thyroid benign nodules are common (90-95%). A personal series of 544 cases forms the basis for a discussion of modern diagnostic techniques, their value and limitations. At the present time, subtotal or near total thyroidectomy is preferred, also in benign thyroid disease. The perfect anatomical knowledge of the neck is of paramount importance to minimize the risk of complications, such as a superior or inferior laryngeal nerve injury and hypoparathyroidism. Temporary suclinic, clinic, definitive hypoparathyroidism was never observed. Relapse was observed in 20 hypothyreosic patients with hormonal therapy.

Rainforest aerosols as biogenic nuclei of clouds and precipitation in the Amazon.

The Amazon is one of the few continental regions where atmospheric aerosol particles and their effects on climate are not dominated by anthropogenic sources. During the wet season, the ambient conditions approach those of the pristine pre-industrial era. We show that the fine submicrometer particles accounting for most cloud condensation nuclei are predominantly composed of secondary organic material formed by oxidation of gaseous biogenic precursors. Supermicrometer particles, which are relevant as ice nuclei, consist mostly of primary biological material directly released from rainforest biota. The Amazon Basin appears to be a biogeochemical reactor, in which the biosphere and atmospheric photochemistry produce nuclei for clouds and precipitation sustaining the hydrological cycle. The prevailing regime of aerosol-cloud interactions in this natural environment is distinctly different from polluted regions.