Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns.

BACKGROUND: Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system. METHODS: We have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborns delivered with urogenital malformation according to EUROCAT recommendations over a 5-year period between 2006 and 2010. The patients were divided into three groups; Group 1: prenatal sonography and postnatal examinations yielded fully identical results. Group 2: postnatally detected urogenital changes were partially discovered in prenatal investigations. Group 3: prenatal sonography failed to detect the urogenital malformation identified in postnatal examinations. Urogenital changes representing part of certain multiple disorders associated with chromosomal aberration were investigated separately. RESULTS: Prenatal sonographic diagnosis and postnatal results completely coincided in 45%, i.e. 63/140 of cases in newborns delivered with urogenital developmental disorders. In 34/140 cases (24%), discovery was partial, while in 43/140 patients (31%), no urogenital malformation was detected prenatally. No associated malformations were observed in 108 cases, in 57 of which (53%), the results of prenatal ultrasonography and postnatal examinations showed complete coincidence. Prenatally, urogenital changes were found in 11 patients (10%), whereas no urogenital disorders were diagnosed in 40 cases (37%) by investigations prior to birth. Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not detected prenatally. In four newborns, chromosomal aberration was associated with the urogenital disorder; 45,X karyotype was detected in two patients, trisomy 9 and trisomy 18 were found in one case each. CONCLUSION: In approximately half of the cases, postnatally diagnosed abnormalities coincided with the prenatally discovered fetal urogenital developmental disorders. The results have confirmed that ultrasonography plays an important role in diagnosing urogenital malformations but it fails to detect all of the urogenital developmental abnormalities

Enabling planetary science across light-years. Ariel Definition Study Report

Ariel, the Atmospheric Remote-sensing Infrared Exoplanet Large-survey, was adopted as the fourth medium-class mission in ESA's Cosmic Vision programme to be launched in 2029. During its 4-year mission, Ariel will study what exoplanets are made of, how they formed and how they evolve, by surveying a diverse sample of about 1000 extrasolar planets, simultaneously in visible and infrared wavelengths. It is the first mission dedicated to measuring the chemical composition and thermal structures of hundreds of transiting exoplanets, enabling planetary science far beyond the boundaries of the Solar System. The payload consists of an off-axis Cassegrain telescope (primary mirror 1100 mm x 730 mm ellipse) and two separate instruments (FGS and AIRS) covering simultaneously 0.5-7.8 micron spectral range. The satellite is best placed into an L2 orbit to maximise the thermal stability and the field of regard. The payload module is passively cooled via a series of V-Groove radiators; the detectors for the AIRS are the only items that require active cooling via an active Ne JT cooler. The Ariel payload is developed by a consortium of more than 50 institutes from 16 ESA countries, which include the UK, France, Italy, Belgium, Poland, Spain, Austria, Denmark, Ireland, Portugal, Czech Republic, Hungary, the Netherlands, Sweden, Norway, Estonia, and a NASA contribution

Natural Orifice Specimen Extraction (NOSE) during Laparoscopic Bowel Resection for Colorectal Endometriosis: Technique and Outcome

STUDY OBJECTIVE We first present a detailed description of a modified NOSE-colectomy technique. Secondly, we report the postoperative outcomes of our prospective case series when compared to conventional laparoscopic bowel resection in a relatively large series of patients. DESIGN Canadian Task Force Classification II-1. SETTING University tertiary referral center. PATIENTS Patient selection The last 90 consecutive patients in our care with DIE of the bowel are presented in this study. Patients were diagnosed at the 1Department of OB/GYN Semmelweis Universtiy Budapest, Hungary. INTERVENTIONS We performed laparoscopic bowel resection using the transrectal NOSE-technique and compared the results of the new operative method (n=30) to traditional laparoscopic bowel resection (n=60). MEASUREMENTS AND MAIN RESULTS Duration of operations The median duration of surgery was 121 minutes in the control group and 96 minutes in the NOSE-group (p=.005). Postoperative complications According to Clavien-Dindo classification, we observed a severe, grade IIIb or higher, overall complication rate of 3.3% among all 90 patients. In the control group anastomosis insufficiency occurred in 3.3% of patients (2/60 cases) and in one patient with anastomotic leakage a rectovaginal fistula was observed (1.7%). There was no significant difference in rates of severe postoperative complications (p=0.55). Hospital stay The length of hospital stay in the control group was a median of 7 (5-13) days whereas in the NOSE-group this was 6 (3-11) days (p<.001). CONCLUSION According to our findings, the use of NOSE-colectomy offers shorter recovery and can eventually lead to shorter surgery duration compared to traditional laparoscopic bowel resection.status: accepte

Leptin gene (TTTC)n microsatellite polymorphism in pre-eclampsia and HELLP syndrome

Background: Leptin plays an important role in energy homeostasis. There is polymorphism on the leptin (LEP) gene. Our aim was to compare the tetranucleotide repeat (TTTC)n polymorphism in the 3′-flanking region in the LEP gene on DNA samples from patients with pre-eclampsia (PE), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome and healthy pregnant controls. Methods: Blood samples were collected from healthy pregnant women (n=88), patients with PE (n=79) and HELLP (n=77) syndrome. Fluorescent PCR and DNA fragment analysis was performed from the isolated DNA for the detection of (TTTC) repeats. The electrophoretograms were evaluated and patients were assigned to two groups; class I low (&#60;190 bp) or class II high (≥190 bp) PCR fragments. Results: We observed similar distributions of the class I and class II (TTTC) alleles in the groups studied (class I allele: healthy pregnant 58.5%; severe pre-eclamptic 58.3%; HELLP syndrome 52.6%). We detected a higher frequency of the II/II genotype in HELLP syndrome patients (32.4%) compared to healthy controls (22.7%). However, the difference was not statistically significant. Conclusions: In an ethnically homogenous population, the LEP gene (TTTC) microsatellite polymorphism in the 3′-flanking region does not show a significant difference in the allele and genotype distribution in healthy pregnant, pre-eclamptic and HELLP syndrome patients. Furthermore, we recommend a new classification of the class I and class II alleles based on the distribution of the (TTTC) microsatellites. Clin Chem Lab Med 2009;47:1033–7.Peer Reviewe

Clinical added-value of 18FDG PET in neuroendocrine-merkel cell carcinoma

Merkel cell carcinoma (MCC) is a rare and highly malignant skin cancer with neuroendocrine differentiation. We studied the potential value of 18FDG PET in the management of MCC. Eleven patients with MCC were examined by 18FDG PET and PET-CT for staging purpose (n=4) or for detection of recurrence (n=7). Qualitative and quantitative interpretation of PET studies was performed routinely. 18FDG PET observations were compared to clinical and radiological findings. In 6 patients, PET findings were also compared to histology. In 7 patients, the 18FDG tumor uptake was compared to the MCC proliferative activity expressed by the Ki-67 index. 18FDG PET was contributive in 10/11 MCC patients. In 7 patients, 18FDG PET detected focal lesions or a disseminated stage of the disease including dermal, nodal and visceral metastases. In 3 patients, a normal 18FDG PET confirmed complete remission of disease. Most MCC patients exhibited highly 18FDG-avid sites suggestive of increased glucose metabolism. This imaging pattern was related to a high proliferative activity (Ki-67 index >50%). In 1 patient with a weakly proliferative nodal MCC (Ki-67<10%), a false negative result was yielded by metabolic imaging. In 4/11 patients, 18FDG PET revealed an unsuspected second neoplasm in addition to MCC. It is concluded that whole-body 18FDG PET may be useful in the management of MCC patients. However, a normal 18FDG PET aspect cannot rule out MCC with low proliferative activity

Leptin gene (TTTC)n microsatellite polymorphism in pre-eclampsia and HELLP syndrome

Background: Leptin plays an important role in energyhomeostasis. There is polymorphism on the leptin(LEP) gene. Our aim was to compare the tetranucleo-tide repeat (TTTC)npolymorphism in the 39-flankingregion in theLEPgene on DNA samples from patientswith pre-eclampsia (PE), hemolysis, elevated liverenzymes, and low platelet (HELLP) syndrome andhealthy pregnant controls.Methods: Blood samples were collected from healthypregnant women (ns88), patients with PE (ns79) andHELLP (ns77) syndrome. Fluorescent PCR and DNAfragment analysis was performed from the isolatedDNA for the detection of (TTTC) repeats. The electro-phoretograms were evaluated and patients wereassigned to two groups; class I low (-190 bp) or classII high (G190 bp) PCR fragments.Results: We observed similar distributions of the classI and class II (TTTC) alleles in the groups studied(class I allele: healthy pregnant 58.5%; severe pre-eclamptic 58.3%; HELLP syndrome 52.6%). We detect-ed a higher frequency of the II/II genotype in HELLPsyndrome patients (32.4%) compared to healthy con-trols (22.7%). However, the difference was not statis-tically significant.Conclusions: In an ethnically homogenous popula-tion, the LEP gene (TTTC) microsatellite polymor-phism in the 3 9 -flanking region does not show asignificant difference in the allele and genotype dis-tribution in healthy pregnant, pre-eclamptic andHELLP syndrome patients. Furthermore, we recom-mend a new classification of the class I and class II alleles based on the distribution of the (TTTC) microsatellites

Clinical added-value of 18FDG PET in neuroendocrine-merkel cell carcinoma.

Merkel cell carcinoma (MCC) is a rare and highly malignant skin cancer with neuroendocrine differentiation. We studied the potential value of 18FDG PET in the management of MCC. Eleven patients with MCC were examined by 18FDG PET and PET-CT for staging purpose (n=4) or for detection of recurrence (n=7). Qualitative and quantitative interpretation of PET studies was performed routinely. 18FDG PET observations were compared to clinical and radiological findings. In 6 patients, PET findings were also compared to histology. In 7 patients, the 18FDG tumor uptake was compared to the MCC proliferative activity expressed by the Ki-67 index. 18FDG PET was contributive in 10/11 MCC patients. In 7 patients, 18FDG PET detected focal lesions or a disseminated stage of the disease including dermal, nodal and visceral metastases. In 3 patients, a normal 18FDG PET confirmed complete remission of disease. Most MCC patients exhibited highly 18FDG-avid sites suggestive of increased glucose metabolism. This imaging pattern was related to a high proliferative activity (Ki-67 index >50%). In 1 patient with a weakly proliferative nodal MCC (Ki-67<10%), a false negative result was yielded by metabolic imaging. In 4/11 patients, 18FDG PET revealed an unsuspected second neoplasm in addition to MCC. It is concluded that whole-body 18FDG PET may be useful in the management of MCC patients. However, a normal 18FDG PET aspect cannot rule out MCC with low proliferative activity.Evaluation StudiesJournal ArticleSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population

Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the “gold standard” method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2–4 weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies.MethodsWe analyzed 20.173 amniotic fluid samples for the period of 2006–2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed.ResultsFrom the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies.ConclusionsQuantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies