Early treatment of intrapericardial teratoma: a case presentation and systematic literature review

Objective: To present a case of an early treatment of cardiac intraperitoneal teratoma (IPT) in a newborn and its associated systematic literature review.

Methods: We presented a case of a newborn with IPT but without hydrops and having a good perinatal outcome after cardiac surgery. Using the PubMed database, we conducted a systematic literature review of articles regarding cases with cardiac IPT diagnosed and treated in the neonatal period and published in English from 2004 onward. We excluded cases that involved fetal death or interrupted gestation events.

Results: In total, 38 cases of IPT from 31 articles were included. The mean?±?standard deviation of the gestational age at diagnosis and delivery were 27.9?±?5.7 and 33.0?±?3.5 weeks, respectively, and that of birth weight was 2373?±?834.5?g. The majority of fetuses (42.1%) were males. Pericardial effusion was the most common symptom (60.5%) followed by hydrops (42.1%) and respiratory distress (42.1%). Intrauterine procedure was not performed in 63.1% of cases, and 71.0% of newborns were alive.

Conclusions: IPT in newborns is usually associated with a good prognosis without the need for intrauterine procedures. Cases with IPT-related death are associated with hemodynamic impairment in fetuses with hydrops.     

Exposure to different intrauterine environments: implications for telomere attrition in early life

Objective: Studies focusing on telomere attrition in newborns and what factors could be involved in this issue are sparse; most reports have been in adult populations. Thereby, the aim of this study was to present an overview of what is currently known about the relationship between environmental exposure of the fetus during pregnancy and telomere length outcomes in early life.

Methods: The MEDLINE (via PubMed) and Bireme databases were searched for studies published until 1 June 2016. Studies that reported telomere length measurement from birth to age 1 year were included.

Results: Fifteen articles were selected that evaluated possible relationships between maternal smoking, hyperglycemia, hypertension, sleep apnea, psychological stress, folate concentration in early pregnancy, and radiation, in addition to small-for-gestational-age status and preterm birth. We found that sleep apnea, psychological stress, and folate concentration in early pregnancy were associated with telomere shortening in the newborn. No association was found with radiation, small-for-gestational-age status, or preterm birth. Results for maternal smoking, hyperglycemia, and hypertension were conflicting, and further studies should be considered.

Conclusion: The actual clinical implications of these findings have yet to be investigated.     

Reconfiguring insufficient breast milk as a sociosomatic problem: mothers of premature babies using the kangaroo method in Brazil

This study focuses on Brazilian mothers who gave birth to premature babies who were discharged from hospital using the Kangaroo Mother Care Method. While mothers left the hospital breastfeeding exclusively, once back at home, they abandoned exclusive breastfeeding because of insufficient breast milk (IBM). In this project we explored how IBM was interpreted by mothers within their social context. Participatory research using the Creative Sensitive Method was done in the homes of mothers with family members and neighbours. We described the conflicting social discourse that influenced the mothers' perception of IBM and explored their sources of distress. At the hospital and Kangaroo ward, mothers considered that clinicians recognized they were experiencing IBM and thus supported them to overcome this problem. Back at home and in their community, other sources of stress generated anxiety such as: the lack of outpatient clinical support, and conflicting local norms to care and feed premature babies. These difficulties combined with economic constraints and discontinuity in models of health care led mothers to lose confidence in their breastfeeding capacity. Mothers, thus, rapidly replaced exclusive breastfeeding by mixed feeding or formula feeding. Our analysis suggests that IBM in our sample was the result of a socio-somatic process. Recommendations are proposed to help overcome IBM and corresponding contextual barriers to exclusive breastfeeding.     

Dynamic development of <Emphasis Type="Italic">Trypanosoma cruzi</Emphasis> in <Emphasis Type="Italic">Rhodnius prolixus</Emphasis>: role of decapitation and ecdysone therapy

Decapitation and ecdysone therapy on the population dynamics of the Trypanosoma cruzi Dm28c clone in the stomach, small intestine and rectum of fifth-instar larvae of Rhodnius prolixus were investigated. Parasites were not found in the small intestine and rectum of decapitated insects after 10 days post-infection (p.i.). Decapitated ecdysone-supplemented insects sustained the flagellate infection in both gut compartments. In the rectum, the population density of parasites increased 5-fold in ecdysone-treated decapitated larvae and 7-fold in control insects. Epimastigote forms dominated with 40-65%, intermediate stages and round forms varied over 10-35% in the stomach, small intestine and rectum in both insect groups. Low numbers of metacyclic trypomastigotes were observed in the stomach and small intestine of the control group and decapitated insects supplemented with ecdysone but, at 15 days p.i., this form of flagellate reached about 20% in the rectum of the control insects. In the entire gut, at 30 days p.i., 23% of parasites in the control group and 8% in the decapitated insects treated with ecdysone were found. These results indicate that a head factor, possibly the prothoracicotropic hormone from the brain which stimulates ecdysone production by the prothoracic glands, may act directly or indirectly to stimulate the development of epimastigotes and round forms of the parasite and that a single ecdysone treatment is not able to fully reverse metacyclogenesis in decapitated R. prolixus.     

Characterization of anti-phosphatidylcholine polyreactive natural autoantibodies from normal human subjects

In 1990 our group reported a patient with autoimmune hemolytic anemia and high titers of IgM anticardiolipin antibodies that cross-reacted with phosphatidylcholine (PTC). These autoantibodies also recognized bromelain-treated erythrocytes (BrE) and in vitro aged erythrocytes. The epitope exposed with this treatment is PTC. To detect and characterize antiphosphatidylcholine antibodies (anti-PTC) in a normal human population, we studied by ELISA the presence of serum anti-PTC (IgG and IgM) in clinically healthy human subjects. The most representative samples were also studied for IgG or IgM activity against BrE by flow cytometry, rheumatoid factor activity, anti-dsDNA, anti-ssDNA by ELISA and by indirect immunofluorecence (IIF) using HEp-2 line and a healthy human fibroblast strain as substratum. Eighty five percent of sera had IgM anti-PTC and none had IgG. IgM antibodies against BrE were inhibited by PTC micelles (mPTC). Anti-PTC were also inhibited by phosphorylcholine and phosphatidic acid. Aggregated gammaglobulin (AGG) reactivity was inhibited by dsDNA and mPTC. The IgM anti-dsDNA activity was inhibited by soluble dsDNA, AGG and mPTC. All sera gave intermediate filaments pattern by IIF and reacted against purified vimentin by dot blot and Western blot.Our study shows hemolytic IgM anti-PTC present in normal human serum. The main epitope recognized by these autoantibodies is phosphorylcholine. The physicochemical characteristics, crossreactivity with self-antigens and functional properties are typical features of natural autoantibodies.     

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydroxyglutaric acid in body fluids proved the diagnosis of L-2-HGA in all 21 patients. We analyzed the L-2-HGA gene (L2HGDH), recently found to be mutated in consanguineous families with L-2-HGA, and identified seven novel mutations in 15 families. Three mutations appeared to be particularly prevalent in this Portuguese panel: a frameshift mutation (c.529delC) was detected in 12 out of 30 mutant alleles (40%), a nonsense mutation (c.208C>T; p.Arg70X) in 7/30 alleles (23%), and a missense mutation (c.293A>G; p.His98Arg) in four out of 30 mutant alleles (13%), suggesting that common origin may exist. Furthermore, two novel missense (c.169G>A; p.Gly57Arg, c.1301A>C; p.His434Pro) and two splice error (c.257-2A>G, c.907-2A>G) mutations were found. All the mutations presumably lead to loss-of-function with no relationship between clinical signs, progression of the disease, levels of L-2-HGA and site of the mutation. In the three remaining families, no pathogenic mutations in the L-2-HGA were found, which suggests either alterations in regulatory regions of the gene or of its intervening sequences, compound heterozygosity for large genomic deletion and, or further genetic heterogeneity.     

Is the wrong question being asked in infertility research?

A persistent finding is that assisted reproductive technology (ART) is associated with compromised birth outcomes, including higher risks for prematurity, low birthweight, and congenital malformations, even among singletons. Over the past decade, our research group, the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART), has evaluated pregnancy and birth outcomes among three groups of women, those women treated with ART, those with indicators of subfertility but without ART treatment, and fertile women. We have also explored the influence of infertility-related diagnoses on outcomes for women and infants. Over the course of our research, we have changed our perspective from an original focus on ART treatment parameters as the primary cause of excess morbidity to one centered instead on the underlying infertility-related diagnoses. This paper summarizes the research findings from our group that support this change in focus for infertility-based research from a primary emphasis on ART treatment to greater attention to the contribution of preexisting pathology underlying the infertility and suggests directions for future analyses.     

Histopathological features of keratocystic odontogenic tumor: a descriptive study of 177 cases from a Brazilian population

The aim of this study was to describe the clinicopathologic features of 177 keratocystic odontogenic tumors (KCOTs) diagnosed in a Brazilian population. A total of 177 KCOTs were reviewed and affected 158 patients with ages ranging from 5 to 79 years (mean age = 32 years) with a slight female predominance. Mandible was the most common affected site (69.3%), and a unilocular radiolucency was the most common radiographic image. Microscopically, all cases showed at least focal areas of classic KCOT, but several histological aspects were also observed, including diffuse and focal epithelial lining hyperplasia (48.6%), epithelial budding (12.4%), reactive cytological alterations (11.3%), dystrophic calcification (7.9%), daughter cysts (7.8%), odontogenic epithelial remnants (4.5%), focal areas of orthokeratinization (2.8%), and ameloblastomatous epithelium (1.7%). These variations may make KCOT diagnosis challenging in some cases, so careful full-sample analysis and knowledge of these uncommon histological features associated with KCOT are essential for correct diagnosis.     

Genomic and mutational profiling of ductal carcinomas in situ and matched adjacent invasive breast cancers reveals intra-tumour genetic heterogeneity and clonal selection

The mechanisms underlying the progression from ductal carcinoma in situ (DCIS) to invasive ductal carcinoma (IDC) of the breast are yet to be fully elucidated. Several hypotheses have been put forward to explain the progression from DCIS to IDC, including the selection of a subpopulation of cancer cells with specific genetic aberrations, and the acquisition of new genetic aberrations or non-genetic mechanisms mediated by the tumour microenvironment. To determine whether synchronously diagnosed ipsilateral DCI and IDCs have modal populations with distinct repertoires of gene copy number aberrations and mutations in common oncogenes, matched frozen samples of DCIS and IDC were retrieved from 13 patients and subjected to microarray-based comparative genomic hybridization (aCGH) and Sequenom MassARRAY (Oncocarta v 1.0 panel). Fluorescence in situ hybridization and Sanger sequencing were employed to validate the aCGH and Sequenom findings, respectively. Although the genomic profiles of matched DCI and IDCs were similar, in three of 13 matched pairs amplification of distinct loci (ie 1q41, 2q24.2, 6q22.31, 7q11.21, 8q21.2 and 9p13.3) was either restricted to, or more prevalent in, the modal population of cancer cells of one of the components. Sequenom MassARRAY identified PIK3CA mutations restricted to the DCIS component in two cases, and in a third case the frequency of the PIK3CA mutant allele reduced from 49% in the DCIS to 25% in the IDC component. Despite the genomic similarities between synchronous DCIS and IDC, our data provide strong circumstantial evidence to suggest that in some cases the progression from DCIS to IDC is driven by the selection of non-modal clones that harbour a specific repertoire of genetic aberrations.