Double aortic arch anomalies in Children: A Systematic 20-Year Single Center Study.

Aortic arch anomalies underlie numerous congenital disorders. Effectively diagnosing and treating them requires close understanding of cardiovascular embryology. As our Center serves the entire pediatric population of our country, we performed a comprehensive retrospective analysis of all aortic arch anomalies diagnosed at our Center over the past 20 years. We analyzed 40 children with aortic arch anomalies, distinguishing two defect types: Group 1 displayed ring-forming anomalies, and Group 2 other types of aortic arch anomalies that did not form a vascular ring. We performed detailed morphological analyses using echocardiography, angiography, computed tomography, or magnetic resonance imaging and generated a catalog of all aortic arch anomalies present. Group 1 was represented by 25 patients; 40% with persistent both aortic arches, and 60% with various forms of right aortic arch and an incomplete left aortic arch. Group 2 was represented by 15 patients with complex heart defects. On the basis of our dataset, the incidence of all aortic arch anomalies was 0.033%, and of ring-forming pathologies 0.021%. Although aortic arch anomalies are rare, it is important to diagnose them correctly. It is critical to distinguish ring-forming types. Although in complex defects the aortic arch anomaly represents only an additive diagnosis, its correct definition could be crucial for further management. Cumulatively, this unique, long-term study provides a systematic patient registry and offers critical epidemiological data to aid the study of rare congenital cardiovascular defects. Clin. Anat. 30:929-939, 2017. © 2017 Wiley Periodicals, Inc.

Congenital pulmonary lymphangiectasia in patient with pulmonary vein stenosis/atresia.

No abstract Keywords.

Measuring individual inbreeding in the age of genomics: marker-based measures are better than pedigrees.

Inbreeding (mating between relatives) can dramatically reduce the fitness of offspring by causing parts of the genome to be identical by descent. Thus, measuring individual inbreeding is crucial for ecology, evolution and conservation biology. We used computer simulations to test whether the realized proportion of the genome that is identical by descent (IBDG) is predicted better by the pedigree inbreeding coefficient (FP) or by genomic (marker-based) measures of inbreeding. Genomic estimators of IBDG included the increase in individual homozygosity relative to mean Hardy-Weinberg expected homozygosity (FH), and two measures (FROH and FE) that use mapped genetic markers to estimate IBDG. IBDG was more strongly correlated with FH, FE and FROH than with FP across a broad range of simulated scenarios when thousands of SNPs were used. For example, IBDG was more strongly correlated with FROH, FH and FE (estimated with ⩾10 000 SNPs) than with FP (estimated with 20 generations of complete pedigree) in populations with a recent reduction in the effective populations size (from Ne=500 to Ne=75). FROH, FH and FE generally explained >90% of the variance in IBDG (among individuals) when 35 K or more SNPs were used. FP explained <80% of the variation in IBDG on average in all simulated scenarios, even when pedigrees included 20 generations. Our results demonstrate that IBDG can be more precisely estimated with large numbers of genetic markers than with pedigrees. We encourage researchers to adopt genomic marker-based measures of IBDG as thousands of loci can now be genotyped in any species.

Climate change and modernization drive structural realignments in European grain production.

Charting the long-term trends in European wheat and maize yields and harvested areas and the relation of yields to climatic and economic drivers, two profound spatial processes become apparent. One consequence of the relatively late modernization of Eastern Europe has been to shift the focus of grain production from West to East. The warming trend prevailing over the past decades in the summer and winter seasons has been accompanied by a South to North shift in the harvested areas. The combination of these two processes has meant that the north-eastern sector of the European grain chessboard has emerged as the main beneficiary. There, the relatively low sensitivity of cereals to climatic change plus high economic growth rates have been accompanied by the most dynamic increases in cereal yields on the continent. As a result, a modern version of the 3000 year-old grain distribution system of the Ancient World is being restored before our eyes. One noteworthy finding is that increasing January-March temperatures have had a significant positive impact on wheat yields from Northern to South-Eastern Europe, and this is, at least in part, compensating for the negative impact of summer warming.

Cohen syndrome: a connective tissue disorder?

Mitral valve prolapse and severe gastroesophageal reflux with hiatal hernia were found in a girl aged 2 years, 4 months with Cohen syndrome. The clinical manifestations suggest the presence of a connective tissue disorder in the patient.

Field trial of a diagnostic axis for defense mechanisms for DSM-IV.

Following critiques that the DSM multiaxial system lacks psychodynamic information useful for treatment, an axis for defense mechanisms was developed for DSM-IV, including up to 7 individual defenses from a glossary of 27, and 3 predominant defense levels from a list of 7. We tested the feasibility, reliability, and discriminability of the proposed axis. Clinician and psychiatric resident volunteers were trained at two U.S. and one Norwegian sites. After conducting initial interviews on 107 patients, they rated the DSM-III-R and defense axes, as did a second blind rater. Median kappa reliabilities were .42 (individual defenses), and .47 (defense levels). A summary measure, Overall Defensive Functioning (ODF), had similar reliability to current GAF (IR .68 vs. .62), similar 1-month stability (.75 vs. .78), but greater 6-month stability (.51 vs. .17). Independent of Axis III, ODF had small to moderate associations with other Axes and symptoms. Our findings indicate that the defense axis is a feasible, acceptably reliable, and nonredundant addition to DSM-IV, which may prove useful for planning and conducting treatment.

[Neurologic complications during chemotherapy of children with acute lymphoid leukemia]. / Központi idegrendszeri szövödmények akut lymphoid leukaemiás gyermekek chemotherapiás kezelése során.

The case histories of two patients with acute lymphocytic leukemia, who developed central nervous system complication during combined chemotherapy are described. The neurological picture could be characterized by symptoms of headache, mental deterioration, hemiparesis and seizures. Following L-asparaginase administration one patient had intracranial thrombosis with focal seizures and hemiparesis associated with clotting abnormalities, including severe hypofibrinogenemia and decreased antithrombin III activity. In the other patient, it was after intrathecal administration of Methotrexate when mental deterioration associated with the symptoms of progressive leukoencephalopathy occurred. It arises the possibility that with increasing complexity of combined chemotherapy the occurrence rate of neurological complications will also increase.

[Detection of Chlamydia trachomatis in chronic prostatitis by in situ hybridization (preliminary methodical report)]. / Chlamydia trachomatis kimutatása in situ hibridizációval krónikus prostatitisben (metodikai elözetes közlemény).

(Preliminary methodical report). In situ hybridization of Chlamydia trachomatis in formalin fixed, paraffin embedded specimens from the Urology Clinic were performed in 2nd Department of Pathology Semmelweis University of Medicine by a biotin labelled DNA probe. Chlamydia trachomatis is suspected to be responsible for the chronic abacterial inflammation of the prostate besides Ureaplasma urealyticum and Mycoplasmae. According to our retrospective study out of 79 biopsy specimens 34 had the diagnosis of chronic abacterial prostatitis. We examined 11 specimens of them. Bacteria were not identified. Three specimens were positive for Chlamydia trachomatis which were improved by transmission electron microscope. The age of patients was between 59 and 81 years. The detection of chlamydia infection rises the suspicion of a "healthy" career and especially at younger age could cause Chlamydia trachomatis associated genital disease. The undiagnosed and untreated diseases may lead to infertility.

[Incidence of internal carotid artery thrombosis and disseminated intravascular coagulopathy in the early stages of acute myeloid leukemia]. / Arteria carotis interna thrombosis és disseminált intravascularis coagulopathia (DIC) elöfordulása akut myeloid leukaemia kezdetén.

The case history of a 15 year old boy in whom thrombosis of the internal carotid artery was associated with severe disseminated intravascular thrombosis (DIC) is described. Both peripheral blood smear and bone marrow aspirate revealed acute myelogenous leukemia FAB M-2 type as the cause of the disease. Consumption coagulopathy is common sign of hemostasis disturbances in leukemia. It is frequently observed in acute promyelocytic leukemia, but rarely it may be seen in the other forms of hemoblastosis, too.

[Congenital type I antithrombin III deficiency with serious complications in a 7-year-old girl]. / Súlyos szövödményekkel járó veleszülett I. típusú antithrombin III hiány 7 eves leányban.

This case report concerns a child admitted to the County Hospital of Zalaegerszeg with the symptoms of ataxia, focal convulsions and hemiparesis. Anticonvulsive therapy abolished the epileptic manifestations, but hemiparesis remained unchanged. At the age of six and half years progressive venous thrombosis developed first on the left and some days later on the right lower limb. Phlebography revealed on both sides thrombosis of the vena iliaca which led to stenosis of the right femoral vein and dilated venous collaterals on the abdomen and right thigh. Coeliacography showed an enlarged spleen and varicosity around the portal vein. Later thrombosis of the arteria dorsalis pedis developed indicated by the gangrene the fifth toe. At this stage the child was transfered to the Pediatric Department of the University of Pécs for further evaluation. Examination of the hemostasis showed hypercoagulability due to antithrombin III deficiency pointing towards a common cause, namely thromboembolism of the earlier and recent clinical manifestations. A reduced activity of the antithrombin III was also observed in the mother and two sisters of the child. The response to Syncumar therapy was beneficial, arterial thrombosis regressed and no further thromboembolic complications developed.

[Competitive polymerase chain reaction: a new method for measuring N-myc amplification]. / Kompetitív polimeráz láncreakció: új lehetöség az N-myc amplifikáció mértékének meghatározására.

The highly variable biological behaviour of neuroblastoma, a neoplasm which belongs to the family of primitive neuroectodermal tumours, is determined by its molecular pathological characteristics. Among them amplification of the N-myc gene is the most important factor in both therapeutic and prognostic points of view. Value of the amplification can be determined by different methods. The latest of them is the competitive polymerase chain reaction (PCR), essence of which is the parallel reaction of the target N-myc gene (exon 3.) and the endogen competitor CF gene (exon 3.) in the same reaction solution. The authors applied the method on 11 neuroblastoma cases diagnosed between 1994 and january of 1999. In three cases the amplification was determined also by fluorescens in situ hybridization (FISH). Six of the 11 cases were detected to have more than 10-fold, two of the six about 100-fold N-myc amplification. Results of the PCR and FISH correlated well. The two methods applied by the authors complete each other and are appropriate for determining the gene amplification which gives valuable prognostic and therapeutic information about the examined tumour.

[Molecular biologic study and the factor VIII gene in hemophilia A]. / A VIII. faktor génjének molekuláris biológiai vizsgálata haemophilia A megbetegedésben.

Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.