Basal ganglia echogenicity in preterm infants: A case series.

BACKGROUND: Damage to the basal ganglia and thalamus (BGT) can be caused by multiple perinatal factors and may be associated with movement disorders, cognitive delay and visual difficulties. Changes in BGT structure, seen as echogenicity on ultrasound, are difficult to objectively quantify. The aetiology, clinical relevance and developmental outcomes of BGT echogenicity are poorly understood. We aimed to gain a better understanding of the natural history of BGT echogenicity in a preterm population. METHODS: Retrospective review of clinical course, neuroimaging and development in infants born <32weeks gestation over 5 years with evidence of BGT echogenicity. RESULTS: BGT echogenicity was reported in 18/650 infants (2.7%). Echogenicity appeared at a median of 8 days (2-45 days) and resolved on pre-discharge ultrasound in 50%. Thirteen infants had a term corrected MRI brain with abnormal BGT signal seen in 3 infants (23%). All 3 infants had persisting echogenicity on discharge ultrasound. No infant with echogenicity resolution on ultrasound had changes on term MRI. 14 infants had developmental progress available at 1 year corrected. Abnormal development was reported in four children of whom one had BGT changes on term MRI. Two children with persistent BGT changes but an otherwise normal MRI had reported normal neurodevelopment. CONCLUSION: BGT echogenicity is relatively common on routine ultrasound and resolves in the majority of infants by term corrected. This review suggests that at term corrected, normal cranial ultrasound may obviate the need for MRI where no other concerns exist. BGT echogenicity did not appear to independently influence neurodevelopment.

The Triangular Sign, a Useful Diagnostic Marker for Biliary Atresia: A Case Series of Three Irish Infants

Background The triangular cord (TC) sign is the appearance of a triangular shaped echogenic density visualised immediately cranial to the portal vein bifurcation on ultrasonographic examination. Several studies have reported that this ultrasonographic sign is a reliable and helpful marker in identifying Biliary Atresia (BA). Aims To report the identification of the TC sign in three infants with BA in the Rotunda Hospital, Dublin. Methods A retrospective chart review was performed to evaluate the clinical presentation and imaging of the three patients with positive TC sign and BA. Discussion Timely, accurate diagnosis of BA is essential to minimise morbidity and optimise patient outcome. The TC is a valuable ultrasonographic sign to aid early diagnosis of BA.

Inclusion of extremes of prematurity in ventricular index centile charts.

OBJECTIVE: To assess the relationship between ventricular index (VI) measurements and postmenstrual age in preterm infants and to generate centile charts and normal ranges for frontal horn ratio (FHR) for a large contemporary cohort of preterm infants. STUDY DESIGN: A retrospective cohort study of 253 infants with birth gestation less than 32 weeks admitted between January 2009 and December 2011 to a tertiary NICU in Ireland. RESULTS: A total of 816 cranial ultrasounds were reviewed. Data collected were grouped according to postmenstrual age at the time of scan from 23 weeks to 45 weeks. Median values for VI show a general trend to increase with gestation. FHR did not significantly change with postmenstrual age at scan with a median value of 0.31. CONCLUSION: There is a slight increase in VI as gestation at the time of scans increases. These results provide the basis for updated centile charts which we propose for current practice.

Using lateral radiographs to determine umbilical venous catheter tip position in neonates.

We aimed to assess the difference in measurement of the distance of the UVC tip from the diaphragm between (Anteroposterior) AP and lateral radiographs and to determine the reliability of the measurement of UVC tip distance from the diaphragm between the two views. A retrospective review of paired AP and lateral radiographs taken to assess UVC tip position was carried out in 25 infants was conducted and reliability analysis was carried out. There was a significant difference in the mean (SD) distance of the UVC catheter above the diaphragm between the AP and lateral radiographs: 8.7 (7.8) mm versus 11.6 (7.3) mm (p = 0.003) respectively. Measurements using lateral radiographs were more reliable (Intraclass correlation coefficient: 0.99 vs. 0.93). Inter-observer reliability analysis yielded similar results. Lateral radiographs are more reliable in measurement of UVC tip position and should be performed in conjunction with AP films to aid in determining UVC position.

Activation of the cnidarian oxidative stress response by ultraviolet radiation, polycyclic aromatic hydrocarbons and crude oil.

Organisms are continuously exposed to reactive chemicals capable of causing oxidative stress and cellular damage. Antioxidant enzymes, such as superoxide dismutases (SODs) and catalases, are present in both prokaryotes and eukaryotes and provide an important means of neutralizing such oxidants. Studies in cnidarians have previously documented the occurrence of antioxidant enzymes (transcript expression, protein expression and/or enzymatic activity), but most of these studies have not been conducted in species with sequenced genomes or included phylogenetic analyses, making it difficult to compare results across species due to uncertainties in the relationships between genes. Through searches of the genome of the sea anemone Nematostella vectensis Stephenson, one catalase gene and six SOD family members were identified, including three copper/zinc-containing SODs (CuZnSODs), two manganese-containing SODs (MnSODs) and one copper chaperone of SOD (CCS). In 24 h acute toxicity tests, juvenile N. vectensis showed enhanced sensitivity to combinations of ultraviolet radiation (UV) and polycyclic aromatic hydrocarbons (PAHs, specifically pyrene, benzo[a]pyrene and fluoranthene) relative to either stressor alone. Adult N. vectensis exhibited little or no mortality following UV, benzo[a]pyrene or crude oil exposure but exhibited changes in gene expression. Antioxidant enzyme transcripts were both upregulated and downregulated following UV and/or chemical exposure. Expression patterns were most strongly affected by UV exposure but varied between experiments, suggesting that responses vary according to the intensity and duration of exposure. These experiments provide a basis for comparison with other cnidarian taxa and for further studies of the oxidative stress response in N. vectensis.

Evolutionary origins of the estrogen signaling system: insights from amphioxus.

Classically, the estrogen signaling system has two core components: cytochrome P450 aromatase (CYP19), the enzyme complex that catalyzes the rate limiting step in estrogen biosynthesis; and estrogen receptors (ERs), ligand activated transcription factors that interact with the regulatory region of target genes to mediate the biological effects of estrogen. While the importance of estrogens for regulation of reproduction, development and physiology has been well-documented in gnathostome vertebrates, the evolutionary origins of estrogen as a hormone are still unclear. As invertebrates within the phylum Chordata, cephalochordates (e.g., the amphioxus of the genus Branchiostoma) are among the closest invertebrate relatives of the vertebrates and can provide critical insight into the evolution of vertebrate-specific molecules and pathways. To address this question, this paper briefly reviews relevant earlier studies that help to illuminate the history of the aromatase and ER genes, with a particular emphasis on insights from amphioxus and other invertebrates. We then present new analyses of amphioxus aromatase and ER sequence and function, including an in silico model of the amphioxus aromatase protein, and CYP19 gene analysis. CYP19 shares a conserved gene structure with vertebrates (9 coding exons) and moderate sequence conservation (40% amino acid identity with human CYP19). Modeling of the amphioxus aromatase substrate binding site and simulated docking of androstenedione in comparison to the human aromatase shows that the substrate binding site is conserved and predicts that androstenedione could be a substrate for amphioxus CYP19. The amphioxus ER is structurally similar to vertebrate ERs, but differs in sequence and key residues of the ligand binding domain. Consistent with results from other laboratories, amphioxus ER did not bind radiolabeled estradiol, nor did it modulate gene expression on an estrogen-responsive element (ERE) in the presence of estradiol, 4-hydroxytamoxifen, diethylstilbestrol, bisphenol A or genistein. Interestingly, it has been shown that a related gene, the amphioxus "steroid receptor" (SR), can be activated by estrogens and that amphioxus ER can repress this activation. CYP19, ER and SR are all primarily expressed in gonadal tissue, suggesting an ancient paracrine/autocrine signaling role, but it is not yet known how their expression is regulated and, if estrogen is actually synthesized in amphioxus, whether it has a role in mediating any biological effects. Functional studies are clearly needed to link emerging bioinformatics and in vitro molecular biology results with organismal physiology to develop an understanding of the evolution of estrogen signaling. This article is part of a Special Issue entitled 'Marine organisms'.

Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis.

AIM OF THE STUDY: Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. PATIENTS AND METHODS: This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. RESULTS: From all signs assessed on initial HRCT scans, ground-glass opacities (n =14, 93%) and lung cysts (n = 6, 40%) were predominant. Interlobular septal thickening (n = 1, 7%), air space consolidation (n = 1, 7%), paraseptal emphysema (n = 2, 13%), and pulmonary nodules (n = 1, 7%) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. CONCLUSION: In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.

A pictorial review of hypovolaemic shock in adults.

Hypovolaemic shock is an infrequently encountered entity found on CT of victims of severe trauma. Early abdominal and pelvic CT can show diffuse abnormalities owing to hypovolaemia that may alert radiologists to the presence of hypovolaemic shock. In this pictorial review, we present the imaging findings of hypovolaemic shock, as seen on CT of the abdomen. A spectrum of vascular and visceral CT signs is described. Vascular signs include diminished inferior vena cava diameter, diminished aortic diameter and abnormal vascular enhancement. Hollow visceral abnormalities include diffuse increased mucosal enhancement of both the small and large bowel, diffuse thickening of the small bowel wall, and small bowel dilatation. Solid visceral abnormalities include both decreased and increased end organ enhancement. This report should increase radiologists' awareness of the CT manifestations of hypovolaemic shock.

A case of disseminated miliary tuberculosis in a five-year-old child.

A five-year old girl was referred, by the local area medical officer, as she had a positive Mantoux test and a chest x-ray consistent with miliary tuberculosis. She had initially been identified three months previously as a contact of a case of open pulmonary tuberculosis. A CT scan of the brain at the time of presentation showed multiple intracranial tuberculomae. A CT Brain scan three months into the treatment regime showed a significant reduction in the number and size of nodules indicating a favourable response to treatment. This case emphasises the importance of rapid tracing of paediatric tuberculosis contacts, if serious complications and their consequences are to be avoided.

Estrogen receptor-related receptors in the killifish Fundulus heteroclitus: diversity, expression, and estrogen responsiveness.

The estrogen receptor-related receptors (ERRs) are a group of nuclear receptors that were originally identified on the basis of sequence similarity to the estrogen receptors. The three mammalian ERR genes have been implicated in diverse physiological processes ranging from placental development to maintenance of bone density, but the diversity, function, and regulation of ERRs in non-mammalian species are not well understood. In this study, we report the cloning of four ERR cDNAs from the Atlantic killifish, Fundulus heteroclitus, along with adult tissue expression and estrogen responsiveness. Phylogenetic analysis indicates that F. heteroclitus (Fh)ERRalpha is an ortholog of the single ERRalpha identified in mammals, pufferfish, and zebrafish. FhERRbetaa and FhERRbetab are co-orthologs of the mammalian ERRbeta. Phylogenetic placement of the fourth killifish ERR gene, tentatively identified as FhERRgammab, is less clear. The four ERRs showed distinct, partially overlapping mRNA expression patterns in adult tissues. FhERRalpha was broadly expressed. FhERRbetaa was expressed at apparently low levels in eye, brain, and ovary. FhERRbetab was expressed more broadly in liver, gonad, eye, brain, and kidney. FhERRgammab was expressed in multiple tissues including gill, heart, kidney, and eye. Distinct expression patterns of FhERRbetaa and FhERRbetab are consistent with subfunctionalization of the ERRbeta paralogs. Induction of ERRalpha mRNA by exogenous estrogen exposure has been reported in some mammalian tissues. In adult male killifish, ERR expression did not significantly change following estradiol injection, but showed a trend toward a slight induction (three- to five-fold) of ERRalpha expression in heart. In a second, more targeted experiment, expression of ERRalpha in adult female killifish was downregulated 2.5-fold in the heart following estradiol injection. In summary, our results indicate that killifish contain additional ERR genes relative to mammals, including ERRbeta paralogs. In addition, regulation of ERRalpha expression in killifish apparently differs from regulation in mammals. Together, these features may facilitate determination of both conserved and specialized ERR gene functions.

17Beta-hydroxysteroid dehydrogenase (17beta-HSD) in scleractinian corals and zooxanthellae.

Steroid metabolism studies have yielded evidence of 17beta-hydroxysteroid dehydrogenase (17beta-HSD) activity in corals. This project was undertaken to clarify whether there are multiple isoforms of 17beta-HSD, whether activity levels vary seasonally, and if zooxanthellae contribute to activity. 17Beta-HSD activity was characterized in zooxanthellate and azooxanthellate coral fragments collected in summer and winter and in zooxanthellae cultured from Montipora capitata. More specifically, 17beta-HSD activity was characterized with regard to steroid substrate and inhibitor specificity, coenzyme specificity, and Michaelis constants for estradiol (E2) and NADP+. Six samples each of M. capitata and Tubastrea coccinea (three summers, three winters) were assayed with E2 and NADP+. Specific activity levels (pmol/mg protein) varied 10-fold among M. capitata samples and 6-fold among T. coccinea samples. There was overlap of activity levels between summer and winter samples. NADP+/NAD+ activity ratios varied from 1.6 to 22.2 for M. capatita, 2.3 to 3.8 for T. coccinea and 0.7 to 1.1 for zooxanthellae. Coumestrol was the most inhibitory of the steroids and phytoestrogens tested. Our data confirm that corals and zooxanthellae contain 17beta-HSD and are consistent with the presence of more than one isoform of the enzyme.

Estrone and estradiol-17 beta concentration in tissue of the scleractinian coral, Montipora verrucosa.

Spawnings of scleractinian corals are affected by light, temperature, and other environmental cues, but no studies elucidate physiological mechanisms that regulate coral gametogenesis. We hypothesized that estrogens may act as bioregulators of coral reproduction. Estrone (E1) and estradiol-17 beta (E2) concentrations were measured in homogenates of tissue and skeleton from M. verrucosa. Tissue samples were collected monthly throughout the year, and more frequently in July and August around spawning. Steroids were extracted with diethyl ether, purified via celite chromatography and assayed with radioimmunoassay. Non-specific binding in coral tissue varied with sample weight and was elevated relative to standards. Monthly mean E1 ranged from 20-70 ng E1 g ash-free dry weight (AFDW)-1, with highest values in April. Smaller asynchronous peaks occurred in early July, prior to spawning. Monthly mean E2 ranged from 8-25 ng E2 g AFDW-1, with highest values in February and March. Peaks in E2 preceded peaks in E1, indicating metabolism of a pool of estrogen. E1 was positively correlated with protein concentration, which is consistent with a bioregulatory role of estrogens. Estrogen peaks in spring and prior to the July spawn corroborate our hypothesis that estrogens regulate coral gametogenesis and spawning.

Sex- and age-related differences in colour vocabulary.

Data were collected on the colour names used by 26 females and 24 males in naming 200 colour samples. Women used more elaborate colour names than men but, contrary to other findings, older subjects of both sexes used more elaborate names than younger subjects. Older men in our sample had a more elaborate vocabulary than younger women, showing that although sex differences were well established, vocabulary continued to increase with age. Colour related hobbies were significantly correlated with enhanced vocabulary for the male group, but not for the female group.

Close encounters of the witness kind: children's memory for a simulated health inspection.

A total of 128 children from each of two age groups (6-7 years and 10-11 years) took part individually in a simulated health check procedure. This involved direct confrontation between the child and an adult stranger in which the child was touched and an article of clothing (shoes) removed. One week later children took part in a series of tests which examined their testimony of the events in which they participated. Older children were superior to younger on both free and prompted recall of event and appearance information and made fewer errors, both relatively and absolutely, on recall of appearance but not events. The two age groups did not differ in their competence in the construction of Photofit pictures and showed no difference in performance on identification from a photographic array, irrespective of whether the adult was present or absent. The implications of these findings for the current debate over the legal admissibility of children's evidence are discussed.