Assembly, annotation and analysis of the chloroplast genome of the Algarrobo tree Neltuma pallida (subfamily: Caesalpinioideae).

BACKGROUND: Neltuma pallida is a tree that grows in arid soils in northwestern Peru. As a predominant species of the Equatorial Dry Forest ecoregion, it holds significant economic and ecological value for both people and environment. Despite this, the species is severely threatened and there is a lack of genetic and genomic research, hindering the proposal of evidence-based conservation strategies. RESULTS: In this work, we conducted the assembly, annotation, analysis and comparison of the chloroplast genome of a N. pallida specimen with those of related species. The assembled chloroplast genome has a length of 162,381 bp with a typical quadripartite structure (LSC-IRA-SSC-IRB). The calculated GC content was 35.97%. However, this is variable between regions, with a higher GC content observed in the IRs. A total of 132 genes were annotated, of which 19 were duplicates and 22 contained at least one intron in their sequence. A substantial number of repetitive sequences of different types were identified in the assembled genome, predominantly tandem repeats (> 300). In particular, 142 microsatellites (SSR) markers were identified. The phylogenetic reconstruction showed that N. pallida grouped with the other Neltuma species and with Prosopis cineraria. The analysis of sequence divergence between the chloroplast genome sequences of N. pallida, N. juliflora, P. farcta and Strombocarpa tamarugo revealed a high degree of similarity. CONCLUSIONS: The N. pallida chloroplast genome was found to be similar to those of closely related species. With a size of 162,831 bp, it had the classical chloroplast quadripartite structure and GC content of 35.97%. Most of the 132 identified genes were protein-coding genes. Additionally, over 800 repetitive sequences were identified, including 142 SSR markers. In the phylogenetic analysis, N. pallida grouped with other Neltuma spp. and P. cineraria. Furthermore, N. pallida chloroplast was highly conserved when compared with genomes of closely related species. These findings can be of great potential for further diversity studies and genetic improvement of N. pallida.

Survey of Lichenized Fungi DNA Barcodes on King George Island (Antarctica): An Aid to Species Discovery.

DNA barcoding is a powerful method for the identification of lichenized fungi groups for which the diversity is already well-represented in nucleotide databases, and an accurate, robust taxonomy has been established. However, the effectiveness of DNA barcoding for identification is expected to be limited for understudied taxa or regions. One such region is Antarctica, where, despite the importance of lichens and lichenized fungi identification, their genetic diversity is far from characterized. The aim of this exploratory study was to survey the lichenized fungi diversity of King George Island using a fungal barcode marker as an initial identification tool. Samples were collected unrestricted to specific taxa in coastal areas near Admiralty Bay. Most samples were identified using the barcode marker and verified up to the species or genus level with a high degree of similarity. A posterior morphological evaluation focused on samples with novel barcodes allowed for the identification of unknown Austrolecia, Buellia, and Lecidea s.l. species. These results contribute to better represent the lichenized fungi diversity in understudied regions such as Antarctica by increasing the richness of the nucleotide databases. Furthermore, the approach used in this study is valuable for exploratory surveys in understudied regions to guide taxonomic efforts towards species recognition and discovery.

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.

PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed. RESULTS: A total of 18 cases including the one we present were selected. Among the most frequent sonographic features, skull shape anomalies were evident in 72.2% of cases, nasal abnormalities in 50%, proptosis and hypertelorism in 44.4% and frontal bossing in 22.2%. Thumbs' anomalies were present in 33.3% of cases and toes' abnormalities in 38.9%. In all cases, postnatal or postmortem examination confirmed the prenatal diagnosis of PS. CONCLUSIONS: We provide a literature review of prenatal diagnosis of PS to identify ultrasound features that may be supportive in the diagnosis of this rare disease, helping in making a differential diagnosis with the other possible craniosynostosis syndromes and in suggesting gene molecular testing.

Wharton's jelly mesenchymal stromal cells have contrasting effects on proliferation and phenotype of cancer stem cells from different subtypes of lung cancer.

Studies on the role of multipotent mesenchymal stromal cells (MSC) on tumor growth have reported both a tumor promoting and a suppressive effect. The aim of the present study was to determine the effect of MSC isolated from Wharton's jelly of umbilical cord (WJMSC) on lung cancer stem cells (LCSC) derived from human lung tumors: two adenocarcinomas (AC) and two squamous cell carcinomas (SCC). LCSC derived from SCC and AC expressed, to varying extents, the more relevant stem cell markers. The effect of WJMSC on LCSC was investigated in vitro using conditioned medium (WJ-CM): a proliferation increase in AC-LCSC was observed, with an increase in the ALDH+ and in the CD133+ cell population. By contrast, WJ-CM hampered the growth of SCC-LCSC, with an increase in the pre-G1 phase indicating the induction of apoptosis. Furthermore, the ALDH+ and CD133+ population was also reduced. In vivo, subcutaneous co-transplantation of AC-LCSC/WJMSC generated larger tumors than AC-LCSC alone, characterized by an increased percentage of CD133+ and CD166+ cells. By contrast, co-transplantation of WJMSC and SCC-LCSC did not affect the tumor size. Our results strongly suggest that WJMSC exert, both in vitro and in vivo, contrasting effects on LCSC derived from different lung tumor subtypes.

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings.

Fetal hyperechogenic bowel may indicate congenital cytomegalovirus disease responsive to immunoglobulin therapy.

OBJECTIVE: To determine whether fetal hyperechogenic bowel is associated with a poor outcome with or without immunoglobulin therapy. METHODS: Sixteen pregnant women whose 17 fetuses had hyperechogenic bowel were followed by a protocol of offering additional serologic testing, amniocentesis, hyperimmunoglobulin (HIG), serial ultrasounds, and evaluation of their children. RESULTS: Of 17 fetuses with hyperechogenic bowel, 13 showed hyperechogenic bowel as a single or first ultrasound sign compared to four who showed it concomitantly or after other ultrasound abnormalities appeared (P = 0.02). Of the 17 fetuses with hyperechogenic bowel, nine were treated with HIG. Eight of the nine were normal at birth and during a follow-up of 3-8 years. One treated fetus is deaf at 4 years of age. A significantly different result (P < 0.0004) occurred among seven untreated fetuses who were each severely affected at 2-7 years of age, and the remaining one died soon after preterm birth. Among seven of nine fetuses (77.8%) of treated mothers the fetal hyperechogenic bowel resolved after HIG administration. There were no significant differences between treated and untreated fetuses for gestational age at maternal infection, gestational age at birth, and birth weight. CONCLUSION: Hyperechogenic bowel may be a marker of congenital cytomegalovirus (CMV) disease, which may be prevented by HIG.

Reverse end-diastolic flow in a fetus with a rare liver malformation: a case report.

INTRODUCTION: We describe a case of early and persistent reverse end-diastolic flow in the middle cerebral artery in a fetus with severe ascites. These features are associated with a rare liver malformation known as ductal plate malformation. CASE PRESENTATION: A 28-year-old Caucasian woman was referred to our high-risk obstetric unit at 24 weeks' gestation for fetal ascites detected during a routine ultrasound examination. During her hospitalization we performed medical investigations, including a fetal paracentesis, to detect the etiology of fetal ascites. The cause of fetal ascites (then considered non-immune or idiopathic) was not evident, but a subsequent ultrasound examination at 27 weeks' gestation showed a reverse end-diastolic flow in the middle cerebral artery without any other Doppler abnormalities. A cesarean section was performed at 28 weeks' gestation because of the compromised fetal condition. An autopsy revealed a rare malformation of intrahepatic bile ducts known as ductal plate malformation. CONCLUSION: Persistent reverse flow in the middle cerebral artery should be considered a marker of adverse pregnancy outcome. We recommend careful ultrasound monitoring in the presence of this ultrasonographic sign to exclude any other cause of increased intracranial pressure. To better understand the nature of these ultrasonographic signs, additional reports are deemed necessary. In fact in our case, as confirmed by histopathological examination, the fetal condition was extremely compromised due to failure of the fetal liver. Ductal plate malformation altered the liver structures causing hypoproteinemia and probably portal hypertension. These two conditions therefore explain the severe hydrops that compromised the fetal situation.

Regression of fetal cerebral abnormalities by primary cytomegalovirus infection following hyperimmunoglobulin therapy.

OBJECTIVE: To assess the effects of maternal and intra-amniotic hyperimmunoglobulin (HIG) infusions among cytomegalovirus (CMV) infected fetuses with ultrasound abnormalities following a primary CMV infection. PATIENTS AND METHODS: The subjects were fetuses with CMV-associated cerebral and other ultrasound abnormalities. Three mothers were treated with HIG infusions during pregnancy and two were untreated. Fetal ventricle size, organ echodensity and placental thickness were measured by ultrasound before and after HIG infusions. The children were evaluated between 3 and 7 years of age. RESULTS: The ventriculomegaly of all three fetuses of HIG-treated mothers regressed and the ascites, hepatic echodensities, periventricular echodensities, and intestinal echodensities disappeared. Their sensorial, mental and motor development was normal at 4, 4.7, and 7 years of age. In contrast, both infants born of untreated mothers had signs and symptoms of severe CMV cerebropathy. CONCLUSION: The outcomes of the infants born to HIG-treated mothers support the efficacy of HIG as a treatment for CMV-infected fetuses with ultrasound cerebral abnormalities.

Placental enlargement in women with primary maternal cytomegalovirus infection is associated with fetal and neonatal disease.

BACKGROUND: Serological testing for primary maternal cytomegalovirus (CMV) infection during pregnancy is not routine, but ultrasound studies are routine. Therefore, we evaluated placental thickening in women with primary CMV infection during pregnancy. METHODS: The study included 92 women with primary CMV infection during pregnancy and 73 CMV-seropositive pregnant women without primary CMV infection. Neonatal CMV transmission was determined by CMV culture of urine samples. Thirty-two women were treated with CMV hyperimmune globulin to either prevent or treat intrauterine CMV infection. Maximal placental thickness was measured by longitudinal (nonoblique) scanning with the ultrasound beam perpendicular to the chorial dish. Programmed placental ultrasound evaluations were performed from 16 to 36 weeks of gestation. RESULTS: At each measurement between 16 and 36 weeks of gestation, women with primary CMV infection who had a fetus or newborn with CMV disease had placentas that were significantly thicker than those of women with primary CMV infection who did not have a diseased fetus or newborn (P<.0001); the latter group, in turn, had placentas that were significantly thicker than those of seropositive control subjects (P<.0001). For both women with and women without diseased fetuses or newborns, receipt of hyperimmune globulin after primary CMV infection was associated with statistically significant reductions in placental thickness (P<.001). Placental vertical thickness values, which are predictive of primary maternal infection, were observed at each measurement from 16 to 36 weeks of gestation, and cutoff values ranged from 22 mm to 35 mm, with the best sensitivity and specificity at 28 and 32 weeks of gestation. CONCLUSIONS: Primary maternal CMV infection and fetal or neonatal disease are associated with sonographically thickened placentas, which respond to administration of hyperimmune globulin. These observations suggest that many of the manifestations of fetal and neonatal disease are caused by placental insufficiency.

Passive immunization during pregnancy for congenital cytomegalovirus infection.

BACKGROUND: Currently, there is no effective intervention for a primary cytomegalovirus (CMV) infection during pregnancy. METHODS: We studied pregnant women with a primary CMV infection. The therapy group comprised women whose amniotic fluid contained either CMV or CMV DNA and who were offered intravenous CMV hyperimmune globulin at a dose of 200 U per kilogram of maternal weight. A prevention group, consisting of women with a recent primary infection before 21 weeks' gestation or who declined amniocentesis, was offered monthly hyperimmune globulin (100 U per kilogram intravenously). RESULTS: In the therapy group, 31 women received hyperimmune globulin, only 1 (3 percent) of whom gave birth to an infant with CMV disease (symptomatic at birth and handicapped at two or more years of age), as compared with 7 of 14 women who did not receive hyperimmune globulin (50 percent). Thus, hyperimmune globulin therapy was associated with a significantly lower risk of congenital CMV disease (adjusted odds ratio, 0.02; 95 percent confidence interval, -infinity to 0.15; P<0.001). In the prevention group, 37 women received hyperimmune globulin, 6 (16 percent) of whom had infants with congenital CMV infection, as compared with 19 of 47 women (40 percent) who did not receive hyperimmune globulin. Thus, hyperimmune globulin therapy was associated with a significantly lower risk of congenital CMV infection (adjusted odds ratio, 0.32; 95 percent confidence interval, 0.10 to 0.94; P=0.04). Hyperimmune globulin therapy significantly (P<0.001) increased CMV-specific IgG concentrations and avidity and decreased natural killer cells and HLA-DR+ cells and had no adverse effects. CONCLUSIONS: Treatment of pregnant women with CMV-specific hyperimmune globulin is safe, and the findings of this nonrandomized study suggest that it may be effective in the treatment and prevention of congenital CMV infection. A controlled trial of this agent may now be appropriate.

Structural-tridimensional study of yolk sac in pregnancies complicated by diabetes.

OBJECTIVES: To assess by two- and three-dimensional ultrasound the diameter and volume of the yolk sac in pregnant women affected by type 1 diabetes during the first trimester of pregnancy. METHODS: 18 women affected by insulin-dependent diabetes mellitus (IDDM) and 52 normoglycemic pregnant women (controls) were enrolled in this study. The women were evaluated once a week (5-12 weeks of pregnancy). Ultrasound examination in all pregnant women was initially performed in a bidimensional fashion with a transvaginal 6.5-MHz probe and subsequently using a three-dimensional technique. RESULTS: In the pregnant diabetic women the diameter of the yolk sac was significantly higher than that of controls in the first weeks of pregnancy, reaching a maximum diameter at 9 weeks, and decreasing thereafter, earlier than controls. The volume of the yolk sac increased in both groups from 5 weeks of pregnancy and reached maximum values at 10 weeks in both groups. The volumetric increase and decrease after reaching highest values were greater in IDDM patients. CONCLUSION: The clinical and diagnostic implications of the results of this study are still to be defined. Such a diagnostic technique may prove to be an additional element in monitoring diabetic women during early pregnancy.

Preliminary report on a new and noninvasive method for the assessment of fetal lung maturity.

OBJECT: Several patterns of fetal breathing movements (FBMs), i.e. abdominal wall movements (AWm), thoracic wall movements (TWm) and nasal fluid flow velocity waveforms (NFFVW), were investigated by ultrasound (US) technology and related to fetal pulmonary maturity and immaturity, i.e. fetal lung maturity (FLM) tests, in order to validate the hypothesis that they may indicate whether the fetal lung is mature or immature, regardless of gender, weight and gestational age. MATERIAL AND METHODS: We prospectively enrolled 143 high-risk pregnancies in which a complete US study of FBMs and FLM tests was performed. Among them 43 women satisfied the inclusion criteria. US-FLM was defined as the presence of regular NFFVW detected by pulsed Doppler and spectral analysis, or irregular NF-FVW synchronous with TWm detected by M-mode. An US guided amniocentesis was performed in order to collect amniotic fluid (AF) and FLM was evaluated by L/S (lecithin/sphingomyelin) determination, presence of phosphatidylglycerol (PG) and lamellar bodies (LBs) count. At the end of the study the diagnostic accuracy of US-FLM was compared to that of FLM tests. RESULTS: Diagnostic accuracy for US evaluation of FLM was as follows: sensitivity: 89.6%; specificity: 85.7%; PPV: 92.8%; NPV: 80%. Diagnostic accuracy of FLM tests was as follows: sensitivity: 100%; specificity: 51.7%; PPV: 100%; NPV: 50%. L/S determination predicted lung maturity with a sensitivity of 100%; specificity of 93.1%; PPV of 100%; NPV of 87.5%. CONCLUSION: Presence of regular NFFVW or irregular NFFVW and TWm correlate accurately with conventional FLM tests. We suggest that this noninvasive procedure may be helpful for assessing FLM, particularly under certain circumstances, e.g., oligo-anhydramnios, laboratory logistic equipment difficulties or heavily stained AF samples, amniocentesis refusal, religious concerns.

Association between maternal-fetal Doppler velocimetry and fetal lung maturity.

AIMS: To correlate maternal-fetal Doppler velocimetry parameters to indices of fetal lung maturity (FLM). METHODS: Fifty-five consecutive third trimester pregnancies in which a pulsed-wave Doppler study, including uterine resistance index (Ut RI), umbilical artery pulsatility index (UA PI), middle cerebral artery pulsatility index (MCA PI) and the UA/MCA ratio was performed within 24 hours before amniocentesis and within a week from birth. FLM was determined by amniotic fluid lamellar bodies count (LBs). RESULTS: A positive correlation between MCA PI and LBs (p < 0.007, r = 0.44) was found. MCA PI showed a trend to lower values in fetuses that developed RDS at birth (1.3 +/- 0.5 vs. 1.7 +/- 0.4, NS). LBs significantly decreased as Ut RI increased (O.R.: 0.98, C.I. 0.97-0.99, p < 0.05). A mean Ut RI > 0.64 was correlated to delayed FLM (LBs < 20,000/microl; sensitivity: 90.9%, specificity: 90.3%; positive predictive value: 76.9%, negative predictive value: 96.6%). COMMENT: In third trimester pregnancies abnormal uterine artery waveforms may be associated to a delayed FLM, as expressed by decreased amniotic fluid LBs.

Intraventricular haemorrhage in a fetus with cerebral cytomegalovirus infection.

Cytomegalovirus (CMV) is the leading infectious cause of prenatal neurological damage, which is particularly severe when primary maternal infection occurs during the first 16 weeks of gestation, at the time of organ development and neuronal migration. Vascular involvement has been suggested to be among the possible pathogenic mechanisms of virus-induced pathology, in addition to direct viral effects. We report on a fetus with cerebral CMV infection, which had intraventricular haemorrhage, together with oligohydramnios and hyperechogenic bowel, following maternal primary CMV infection.