Модель локальной геомагнитной аномалии Цкалцминда-Уреки

მოცემულია წყალწმინდა-ურეკის საკურორტო ზონაში ჩატარებული მაგნიტომეტრიული და ელექტრომეტრიული გაზომვების გეოფიზიკური ინტერპრეტაციის შედეგები, რომელთა საფუძველზეც ჩატარებულია ამ ლოკალური მაგნიტური ანომალიის თვისობრივი ანალიზი.

Цителицкароиская магнитная аномалия и её геологическая интерпретация на основе новых геолого-гоеомагнитных данных

ახალი გეომაგნიტური და გეოლოგიური ინფორმაციების საფუძველზე დადგენილია, რომ წითელწყაროს მაგნიტური ანომალიის წყაროა ბაიოსის პორფირიტული წყების ქანები. ამასთან ერთად, გამოთქმულია მოსაზრება საკვლევი რეგიონის გეოტექნიკური განვითარების და მაგნიტური ანომალიის წარმოშობის გეოლოგიური ისტორიის შესახებ.

Electrophysiological Studies and Radiofrequency Ablations in Children and Adolescents with Arrhythmia

Background:Radiofrequency ablation is the standard non-pharmacological treatment for arrhythmias in pediatric patients. However, arrhythmias and their associated causes have particular features in this population.Objective:To analyze the epidemiological characteristics and findings of electrophysiological diagnostic studies and radiofrequency ablations in pediatric patients referred to the Electrophysiology Unit at Instituto de Cardiologia do Rio Grande do Sul, in order to characterize the particularities of this population.Methods:Cross-sectional study with 330 electrophysiological procedures performed in patients aged less than 20 years between June 1997 and August 2013.Results:In total, 330 procedures (9.6% of the overall procedures) were performed in patients aged less than 20 years (14.33 ± 3.25 years, age range 3 months to 19 years), 201 of which were males (60.9%). A total of 108 (32.7%) electrophysiological diagnostic studies were performed and of these, 48.1% showed abnormal findings. Overall, 219 radiofrequency ablations were performed (66.3%) with a success rate of 84.8%. The presence of an accessory pathway was the most prevalent finding, occurring in 158 cases (72.1%), followed by atrioventricular nodal reentrant tachycardia (16.8%), typical atrial flutter (3.1%) and extrasystoles originating from the right ventricular outflow tract (2.7%). Three patients developed complications during ablation (1.4%). Among congenital heart diseases, which occurred in 51 (15.4%) patients, atrial sept defect was the most frequent (27.4%), followed by ventricular sept defect (25.4%) and Ebstein's anomaly (17.6%).Conclusion:Electrophysiological study and radiofrequency ablation are effective tools for diagnosis and treatment of arrhythmias in the pediatric population.

Interessante comportamento dos cromossômios na espermatogênese dp escorpião Isometrus maculatus De Geer

Having had the opportunity of studying a male of the species Isometrus maculatus De Qeer (Scorplones, Buthidae) the author was able to observe one of the most interesting anomalies hitherto met with in his investigations on Scorpions. This anomaly consisted in the formation by the primary spermatocyte metaphase chromosomes of a complex group of eight elements, and two independent pairs. As it is clear, the octovalent group resulted from tranlocations involving the members of four chromosome pairs. Since aside the compound group two independent bivalents were always present, 12 was estabilished as representing the diploid chromosome number of the individual, what was soon confirmed by the counts in the spermatogonia. This peculiar behavior of the chromosomes of the primary spermatocytes represents the habitual condition in the studied individual, since it was found everywhere in the whole testis. Better than any description, the figures in this, paper show what was observed. Notwithstanding the complications which may occur at anaphase, separation of the chromosomes goes normally, each pole receiving four chromosomes from the group and two from the free bivalents. Secondary spermatocytes are thus provided with six monovalents. Though not found, we may believe in the existence of secondary spermatocytes with more or lesse than six chromosomes, because it seems highly probable that lhe chromosomes of the complex may now and then passe to the wrong pole 'n consequence of an incorrect orientation. Bridge vestiges suggest that chromosomes may sometimes break. The spermatogonia have 12 short chromosomes, which bend to the poles at anaphase. The chromosomes of the present species approach, in shape and behavior, those of Tityus mattogrossensis.

A doença de Chagas no Paraná

In recent speech in Curitiba (May 22nd, 1954), Dr. Mario Pinotti, Director, Serviço Nacional da Malaria, informed that his personnel started on February, 1953, a survey upon chagas Disease in 23 counties of the State of Paraná, South Brazil. out of 895 places surveyed, 678, or 75.7%, were infected by Triatoma infestans klug 1834 and in 234 out of those 678, or 34.5%, this vector was infected by Trypanosoma cruzi. The general natural infection of the insects examined reached 18.86%. The serological survey (Machado-Guerreiro test) was positive in 10.7% of the persons examined in jacarezinho and in 28.3% of those living in Bôa Vista. These data suggested the author to actualise the subject. During his control of severe outbreack of malaria in the North part of Paraná, from march to June 1917 he worked in 8 counties. March 1917 he photographed in Boa Vista four girls, severe cases of chronic malaria, two of which showed bi-palpebral oedema, later on considered by Dr. Pinho Simões (1943) as Romanã syndrome (created in 1935) and Prof. Salvador Mazza (1946) classified as typical cases of Chagas' Disease. now, being elapsed 36 years, the National Service of Malaria confirmed the discovery. The region surveyed was populated, in the beginning of this century, by immigrants from the State of Minas Gerais, from where the author believes that were imported the disease and its vectors. In April 1917 the A. discovered that the old town Jatahy was a big focus of Triatoma megista (now Panstrongylus megistus0. All its 43 houses were strongly infested by such hematophagus and amongst the 200 inhabitants seen many were suspicious cases of chronic cases of Chagas's Disease. In the Indians town (three tribes) of S. Pedro D' Alcantara, situated in front of Jatahy, in the left side of the river Tibagy, there were no Triatomas nor suspicious cases of trypanosomiasis. In 1919 the author started the control of the endemics by destroying the foci of Triatomas and reforming the housing. In 1946 he returned to jatahy and found the sanitary conditions of the town and its inhabitants much better. Climate of the region is favorable to spreading of all tropical diseases, being very suitable one for an extensive sanitary survey. In 1943 Dr. Pinho Simões examined 85 triatomas ( T. infestans) from six counties of the North region and found 40, or 46% infected by Trypanosoma cruzi. The highest incidences were; Joaquim Tavora 74.2% and Carlópolis 26.9%. These counties seem to be infested by Itaporanga county of São Paulo State. in 1953 Serviço nacional da Malária proved that 19 out of 23 counties surveyed were infested by Triatoma infestans. They examined 7,701 of this insect and found 1,453 positive for Trypanosoma cruzi, or 18.9%. in two counties, Jacarezinho and Sengés, were examined 2,588 human bloods, not selected, and 323, or 12.6% of such samples were positive for Chagas' Disease. This year the Malaria Service is doing insects survey in 25 other counties and DDTising infested domiciles of another eight. Such activity is very promising and should be extended to other places.

Anatomical landmarks for transnasal endoscopic skull base surgery.

Resection of midline skull base lesions involve approaches needing extensive neurovascular manipulation. Transnasal endoscopic approach (TEA) is minimally invasive and ideal for certain selected lesions of the anterior skull base. A thorough knowledge of endonasal endoscopic anatomy is essential to be well versed with its surgical applications and this is possible only by dedicated cadaveric dissections. The goal in this study was to understand endoscopic anatomy of the orbital apex, petrous apex and the pterygopalatine fossa. Six cadaveric heads (3 injected and 3 non injected) and 12 sides, were dissected using a TEA outlining systematically, the steps of surgical dissection and the landmarks encountered. Dissection done by the "2 nostril, 4 hands" technique, allows better transnasal instrumentation with two surgeons working in unison with each other. The main surgical landmarks for the orbital apex are the carotid artery protuberance in the lateral sphenoid wall, optic nerve canal, lateral optico-carotid recess, optic strut and the V2 nerve. Orbital apex includes structures passing through the superior and inferior orbital fissure and the optic nerve canal. Vidian nerve canal and the V2 are important landmarks for the petrous apex. Identification of the sphenopalatine artery, V2 and foramen rotundum are important during dissection of the pterygopalatine fossa. In conclusion, the major potential advantage of TEA to the skull base is that it provides a direct anatomical route to the lesion without traversing any major neurovascular structures, as against the open transcranial approaches which involve more neurovascular manipulation and brain retraction. Obviously, these approaches require close cooperation and collaboration between otorhinolaryngologists and neurosurgeons.

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study.

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm for classification of congenital anomaly cases followed by manual review of potential MCA cases by geneticists. MCA cases are defined as cases with two or more major anomalies of different organ systems, excluding sequences, chromosomal and monogenic syndromes. RESULTS: The combination of an epidemiological and clinical approach for classification of cases has improved the quality and accuracy of the MCA data. Total prevalence of MCA cases was 15.8 per 10,000 births. Fetal deaths and termination of pregnancy were significantly more frequent in MCA cases compared with isolated cases (p < 0.001) and MCA cases were more frequently prenatally diagnosed (p < 0.001). Live born infants with MCA were more often born preterm (p < 0.01) and with birth weight < 2500 grams (p < 0.01). Respiratory and ear, face, and neck anomalies were the most likely to occur with other anomalies (34% and 32%) and congenital heart defects and limb anomalies were the least likely to occur with other anomalies (13%) (p < 0.01). However, due to their high prevalence, congenital heart defects were present in half of all MCA cases. Among males with MCA, the frequency of genital anomalies was significantly greater than the frequency of genital anomalies among females with MCA (p < 0.001). CONCLUSION: Although rare, MCA cases are an important public health issue, because of their severity. The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems.

Stable isotope composition of smectite in suevites at the Ries crater, Germany: Implications for hydrous alteration of impactites

The 24-km diameter Ries crater, Germany, exhibits well-preserved crater filling and surficial melt-rich breccia deposits that are believed to have been altered by post-impact hydrothermal fluids. The alteration mineralogy of the crater filling breccias is characterized by clay (smectite, chlorite) and a zeolite assemblage, and secondary clay phases (smectite, minor halloysite) in surficial melt-bearing breccia deposits. Using stable isotope analysis of secondary smectitic clay fractions, evidence of significant hydrous alteration of impactites at large water/rock ratios was found. The estimated fluid temperatures, using data derived by delta(18)O and delta D fractionation, suggest smectite precipitation in surficial breccias in equilibrium with meteoric fluids at temperatures 16 +/- 5 degrees C in agreement with the long-term variation of modern precipitation in the area. The stable isotope composition of smectite in crater-fill breccia, however, suggests a trend of monotonously increasing temperatures from 43 to 112 degrees C. with increasing depth through the breccia sequence. This demonstrates a different origin of alteration and temperature distribution for the surficial and crater filling melt-bearing impact breccias in the Ries crater. Our results suggest that the inverted structure of hydrothermal systems observed in some terrestrial impact craters, including the Ries crater, could indicate the initial configuration of a thermal anomaly in the crater filling sequence, but which is replaced with a normal hydrothermal convection in crater proper, during the course of post-impact cooling. (C) 2010 Elsevier B.V. All rights reserved.

Paper 2: EUROCAT public health indicators for congenital anomalies in Europe.

OBJECTIVE: The purpose of this article is to present the specific public health indicators recently developed by EUROCAT that aim to summarize important aspects of the public health impact of congenital anomalies in a few quantitative measures. METHODS: The six indicators are: (1) congenital anomaly perinatal mortality, (2) congenital anomaly prenatal diagnosis prevalence, (3) congenital anomaly termination of pregnancy, (4) Down syndrome livebirth prevalence, (5) congenital anomaly pediatric surgery, and (6) neural tube defects (NTD) total prevalence. Data presented for this report pertained to all cases (livebirths, fetal deaths, or stillbirths after 20 weeks of gestation and terminations of pregnancy for fetal anomaly [TOPFA]) of congenital anomaly from 27 full member registries of EUROCAT that could provide data for at least 3 years during the period 2004 to 2008. Prevalence of anomalies, prenatal diagnosis, TOPFA, pediatric surgery, and perinatal mortality were calculated per 1000 births. RESULTS: The overall perinatal mortality was approximately 1.0 per 1000 births for EUROCAT registries with almost half due to fetal and the other half due to first week deaths. There were wide variations in perinatal mortality across the registries with the highest rates observed in Dublin and Malta, registries in countries where TOPFA are illegal, and in Ukraine. The overall perinatal mortality across EUROCAT registries slightly decreased between 2004 and 2008 due to a decrease in first week deaths. The prevalence of TOPFA was fairly stable at about 4 per 1000 births. There were variations in livebirth prevalence of cases typically requiring surgery across the registries; however, for most registries this prevalence was between 3 and 5 per 1000 births. Prevalence of NTD decreased by about 10% from 1.05 in 2004 to 0.94 per 1000 in 2008. CONCLUSION: It is hoped that by publishing the data on EUROCAT indicators, the public health importance of congenital anomalies can be clearly summarized to policy makers, the need for accurate data from registries emphasized, the need for primary prevention and treatment services highlighted, and the impact of current services measured.

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group.

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.

Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries.

OBJECTIVES: To evaluate the current effectiveness of routine prenatal ultrasound screening in detecting gastroschisis and omphalocele in Europe. DESIGN: Data were collected by 19 congenital malformation registries from 11 European countries. The registries used the same epidemiological methodology and registration system. The study period was 30 months (July 1st 1996-December 31st 1998) and the total number of monitored pregnancies was 690,123. RESULTS: The sensitivity of antenatal ultrasound examination in detecting omphalocele was 75% (103/137). The mean gestational age at the first detection of an anomaly was 18 +/- 6.0 gestational weeks. The overall prenatal detection rate for gastroschisis was 83% (88/106) and the mean gestational age at diagnosis was 20 +/- 7.0 gestational weeks. Detection rates varied between registries from 25 to 100% for omphalocele and from 18 to 100% for gastroschisis. Of the 137 cases of omphalocele less than half of the cases were live births (n = 56; 41%). A high number of cases resulted in fetal deaths (n = 30; 22%) and termination of pregnancy (n = 51; 37%). Of the 106 cases of gastroschisis there were 62 (59%) live births, 13 (12%) ended with intrauterine fetal death and 31 (29%) had the pregnancies terminated. CONCLUSIONS: There is significant regional variation in detection rates in Europe reflecting different policies, equipment and the operators' experience. A high proportion of abdominal wall defects is associated with concurrent malformations, syndromes or chromosomal abnormalities, stressing the need for the introduction of repeated detailed ultrasound examination as a standard procedure. There is still a relatively high rate of elective termination of pregnancies for both defects, even in isolated cases which generally have a good prognosis after surgical repair.

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease.

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in five patients with arMCOP from a consanguineous Tunisian family. In one patient with MCOP from the Faroe Islands and in another one from Turkey, no PRSS56 mutation was detected, suggesting nonallelic heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603 amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced.

The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population.

OBJECTIVE: To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-α (TNF-α) antagonist and the general population. METHODS: Analysis for comparison of proportional differences to a previous publication between anomaly subgroups, according to subgroup definitions of the European Surveillance of Congenital Anomalies (EUROCAT), a population-based database. RESULTS: Most EUROCAT subgroups belonging to the VACTERL association contained only one or 2 records of TNF-α antagonist exposure, so comparison of proportions was imprecise. Only the category "limb abnormalities" showed a significantly higher proportion in the general population. CONCLUSION: The high number of congenital anomalies belonging to the VACTERL association from a report of pregnancies exposed to TNF-α antagonists could not be confirmed using a population-based congenital anomaly database.