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  Karger Kompass
   Full-text available via subscription Subscription journal
   ISSN (Print) 2296-0368 - ISSN (Online) 2296-0317
   Published by Karger Homepage  [104 journals]
  • The Contribution of Germinal Mosaicism to Human Aneuploidy
    • Abstract: Germinal mosaicism in a parent is considered to be a rare cause of aneuploidy in the offspring. The aim of this study was to assess the incidence of pre-meiotic errors, indicative of germinal mosaicism, leading to aneuploidy compared with those that occur at meiosis I. The material consisted of 126 oocytes, unexposed to sperm, donated by 57 women with an average maternal age of 35. The oocytes were at various stages of maturity and were analysed by array comparative genomic hybridisation. Of these, 102 gave conclusive results, comprising 47 that were immature, at the germinal vesicle (GV) or metaphase I stage (MI); 34 complete metaphase II-first polar body (MII-PB) complexes together with 21 incomplete complexes. Oocytes at the GV or MI stage provide direct evidence of pre-meiotic aneuploidy. Complete MII-PB complexes with the expected reciprocal gains/losses provide information on MI errors; those with non-reciprocal gains have pre-meiotic errors. Overall, 29 oocytes were aneuploid, and the source of the error was known for 21. In 8 (from 7 women) the error was pre-meiotic consisting of 4 MI oocytes and 4 MII-PB complexes with non-reciprocal gains. The remaining 13 were the result of errors at meiosis I. Although pre-meiotic errors occurred in only 10% of informative oocytes, most notable was the fact that for those oocytes where the source of the error was known, 38% were caused by germinal mosaicism compared with 62% that were the outcome of a meiosis I error. None of the women with germinal mosaicism were infertile.
      Cytogenet Genome Res 2014;144:264-274
  • Protein SYCP2 Is an Ancient Component of the Metazoan Synaptonemal Complex
    • Abstract: During the first meiotic prophase, chromosome synapsis is mediated by the synaptonemal complex (SC), an evolutionarily conserved meiosis-specific structure. In mammals, 7 SC protein components have been identified so far. Despite some controversy in the past, we have shown that SC proteins are ancient in metazoans and very likely formed an ancestral SC structure in the ancestor of metazoans. Protein components SYCP1, SYCP3, SYCE2, and TEX12 were identified in basal-branching metazoans, while other components (SYCE1 and SYCE3) are more recent elements. However, the evolutionary history of mammalian SYCP2 is not known. Here, we investigated this aspect with the aid of bioinformatic tools as well as with RNA and protein expression analysis. We conclude that SYCP2 belongs to the group of ancient SC proteins that was already present in the common ancestor of metazoans more than 500 million years ago.
      Cytogenet Genome Res 2014;144:299-305
  • Clinical Features and Survival of Asian Pediatric Patients with Paroxysmal
           Nocturnal Hemoglobinuria: Results from a Single Center in China
    • Abstract: Objective: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease, especially in children. To characterize the clinical presentations and survival, we performed a retrospective analysis of pediatric patients. Methods: We reviewed 55 pediatric patients with PNH referred to our hospital from January 1990 through June 2012 to assess clinical presentations, survival, and differences among subcategories. Results: The overall survival 10 years after diagnosis estimated via the Kaplan-Meier method was 77.6%. The cohort of patients was divided into subcategories of classic PNH, PNH/aplastic anemia (AA), and subclinical PNH (PNH-sc)/AA based on the recently proposed PNH working clinical classification. We found that patients with classic PNH and PNH/AA had larger PNH clones and many more parameters of hemolysis, but patients with PNH-sc/AA had smaller PNH clones, fewer parameters of hemolysis, and a higher rate of bone marrow failure. Our results revealed a high rate of bone marrow failure and a low rate of hemoglobinuria at presentation. Furthermore, thrombotic events were not observed in our patients, which is significantly different from the rate seen in Caucasian patients. Additionally, pediatric patients with PNH may develop bone marrow cytogenetic abnormalities. Conclusion: This study provides insight into Chinese pediatric PNH patients and may aid in setting up individualized therapeutic regimens.
      Acta Haematol 2015;134:1-6
  • Prospective Evaluation of a Transfusion Policy of RhD-Positive Red Blood
           Cells into DEL Patients in China
    • Abstract: Background: The D antigen is highly immunogenic, requiring only a small quantity of transfused red blood cells (RBCs) to cause alloimmunization in D- immunocompetent recipients. DEL was reported arousing alloimmunization to true Rh- patients. Molecular studies of the RHD gene have revealed that DEL individuals retain a grossly intact RHD gene or have a portion of RHD in their genomes. Avoiding immunization with clinically important antibodies is a primary objective in transfusion medicine. Methods: In order to determine whether pregnant DEL women carrying an RhD+ fetus are at risk of anti-D alloimmunization, 808 Rh- pregnant women with a history of gestations or parturitions who regularly visited hospitals for their prenatal anti-D screening and postpartum care from January 2011 to December 2012 were investigated. Samples were analyzed for DEL by PCR with specific primers, PCR-sequence-specific primers (PCR-SSP), reverse transcription-PCR (RT-PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and by gene sequencing to characterize different alleles. Results: Among the 808 Rh- pregnant women of our sample, 178 (22.0%) were typed as DEL; 168 DEL samples were confirmed to have the RHD (1,227 G>A) allele, 8 DEL samples were characterized by one base mutation of the RHD (3G >A) allele, and the remaining two DEL samples were determined to carry RHD-CE(4-9)-D or RHD-CE(2-5)-D. The observation of allo-anti-D in two prominent D epitope loss cases confirmed the partial nature of these DEL phenotypes. Conclusions: In conclusion, evidence is provided that different DEL genotypes code either for partial or complete D antigen expression. It is suggested that the use of RhD+ RBCs in complete D antigen DEL patients does not induce adverse reaction.
      Transfus Med Hemother
  • Monitoring of Hematopoietic Chimerism by Real-Time Quantitative PCR of
           Micro Insertions/Deletions in Samples with Low DNA Quantities
    • Abstract: Background: Sensitive and accurate methods to detect hematopoietic chimerism after hematopoietic stem cell transplantation (HSCT) are essential to evaluate engraftment and to monitor response to therapeutic procedures such as donor lymphocyte infusion. Continuous long-term follow up, however, requires large amounts of pre-HSCT samples limiting the application of many widely used techniques for sensitive chimerism monitoring. Methods: DNAs from 42 normal healthy donors and 16 HSCT donor/recipient pairs were employed to validate the use of allele-specific insertion/deletion (indel) quantitative real-time polymerase chain reaction (qPCR) to quantify chimerism in samples with low amounts of DNA. Consequently, indel-qPCR analyses of samples from 16 HSCT patients were compared to short-tandem repeat (STR) specific PCR analyses. Results: Typing with reduced amounts of input DNA (15 vs. 60 ng) allowed for the reliable distinction of positive (mean threshold cycle (ct) 28.05) and negative (ct >36) signals. The high informativity of primer/probe sets, with 12 out of 19 markers exceeding 20% informativity, was confirmed in our cohort (n = 74). Importantly, a fourfold reduction of input DNA compared to published protocols did not alter PCR efficiencies and allowed for a more sensitive detection of chimerism in 7 of 16 HSCT patients compared to results obtained by STR-PCR. Conclusions: Our data suggest that indel-qPCR is a more sensitive technique for the detection of hematopoietic chimerism compared to STR-PCR and works efficiently for samples with low amounts of DNA.
      Transfus Med Hemother
  • A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome:
           Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared
           after Successful Delivery
    • Abstract: Background: Upshaw-Schulman syndrome (USS) is usually suspected based on severe deficiency of ADAMTS13 activity without ADAMTS13 antibody, but the definitive diagnosis is made by ADAMTS13 gene analysis. We present a unique case of USS with low titers of ADAMTS13 antibodies before pregnancy. Interestingly, titers of ADAMTS13 antibodies decreased to almost undetectable levels after delivery. Case Report: In patient LL4, the diagnosis of USS was confirmed at age 27 by ADAMTS13 gene analysis. She became pregnant at age 30. During the pregnancy, she received regular fresh frozen plasma (FFP) infusion. Plasma von Willebrand factor levels increase as pregnancy progresses. To prevent platelet thrombi, much more ADAMTS13 supplementation is necessary during late gestation in patients with USS. Therefore, we shortened the interval between and increased the volume of FFP infusions as pregnancy progressed. At 39 weeks, she delivered a healthy baby girl. Before pregnancy, she had low titers of both neutralizing and binding anti-ADAMTS13 antibodies. Despite frequent FFP infusions, titers of the antibodies did not increase, but rather decreased to almost undetectable levels during pregnancy. Conclusion: Both the neutralizing and binding antibodies against ADAMTS13 decreased to almost undetectable levels after delivery in this patient, which can be caused by an immunological reset.
      Transfus Med Hemother
  • Impact of Prophylactic Mastectomy in
           BRCA1/2 Mutation Carriers
    • Abstract: Unlike the general decrease in invasive oncologic care, the trend for prophylactic bilateral mastectomy in healthy women and prophylactic contralateral mastectomy in women with unilateral breast cancer is steadily rising. This is even more surprising when considering that for e.g. prophylactic contralateral mastectomy no clear survival benefit has been demonstrated so far. The decision-making process around risk-reducing surgery may be influenced by several conflicting parameters such as the patient's fears and desire to achieve a survival advantage, the surgeon's financial motivations, or the oncologist's paternalistic approach to the above trend. Physicians should support their patients throughout the decision-making process, guide them through the dense fog of information, and encourage them to reconsider all options and alternatives before embarking on an irreversible surgical intervention. Healthy and diseased women should be comprehensively informed about their absolute individual risks for cancer, the benefits and harms of the surgery, alternative preventive strategies, and last but not least the competing risks of preceding carcinomas and cancer in general. Within the framework of non-directive counseling in the specialized centers of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), decision-making aids are being developed with grants from the Federal Ministry of Health and the German Cancer Aid to support women in making conclusive and satisfactory decisions.
      Breast Care 2014;9:385-389
  • Reproduction and Breast Cancer Risk
    • Abstract: Reproduction is doubtlessly one of the main biological meanings of life. It is therefore not surprising that various aspects of reproduction impact on breast cancer risk. Various developmental levels may become targets of breast tumorigenesis. This review follows the chronologic sequence of events in the life of a female at risk, starting with the intrauterine development. Furthermore, the influence of both contraceptive measures and fertility treatment on breast cancer development is dealt with, as well as various pregnancy-associated factors, events, and perinatal outcomes. Finally, the contribution of breast feeding to a reduced breast cancer risk is discussed.
      Breast Care 2014;9:398-405
  • Effect of Intravitreal Bevacizumab Injection before Ahmed Glaucoma Valve
           Implantation in Neovascular Glaucoma
    • Abstract: Ophthalmologica 2013;229:94–100
  • Long-Term Outcome of Polymyositis Treated with High Single-Dose
           Alternate-Day Prednisolone Therapy
    • Abstract: Eur Neurol 2012;68:117–121
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