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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  [103 journals]
  • Patterns of Skin Luminescence Resulting from the Visualization of Active
           Acupuncture Points Using Optical Stimulation
    • Abstract: Background: In recent years, biologically active points (BAPs) have become the topic of intensive scientific discussion. Innovative investigations of this topic are presented. Methods: Types of skin surface luminescence patterns in the areas of BAPs observed after acting on the area with a short light pulse are analyzed. The device was designed as a laboratory model (NSTU, medical electronics laboratory, Novosibirsk, Russia). Pictures were taken with a PENTAX K10 , a PENTAX ist DL as well as a Canon 6D photo camera. Luminescent points can clearly be observed. The pictures were zoomed on a computer and graphically analyzed. Results: Five patterns were found: black center with white ring, black center with 2 rings (white and black), white center with black ring, white center with 2 rings (black and white) and white center with 3 rings (black, white and black). Luminescent BAPs were found on the pericardium and triple energizer meridians. Conclusion: This pilot study can serve as a basis for further investigations in the field of meridian research. The first results are very promising, and future studies are indicated in body acupuncture as well as ear acupuncture.
      Integr Med Int 2015;2:1-8
  • Nail Alterations in Cutaneous T-Cell Lymphoma: A Case Series and Review of
           Nail Manifestations
    • Abstract: Background: Cutaneous T-cell lymphoma (CTCL) encompasses a broad range of lymphoproliferative diseases affecting the skin and can be clinically misleading due to its variable presentation. Nail alterations commonly appear in advanced-stage mycosis fungoides and true Sézary syndrome; however, they may be present in any stage of the disease. Although proper recognition of nail involvement in CTCL has both clinical and therapeutic value, specific nail findings have been infrequently described in the current literature. Observations: We describe 4 patients with CTCL who presented with clinically significant nail alterations. The most common findings were nail discoloration, thickening, crumbling, onycholysis, and onychomadesis. Other notable findings included splinter hemorrhages, subungual hyperkeratosis, and anonychia. Conclusions and Message: The described cases illustrate many of the documented nail findings associated with CTCL and emphasize the variable nature of nail manifestations. The presence of specific nail alterations should increase the clinical suspicion of CTCL - especially in patients with concomitant systemic and/or cutaneous manifestations - and early biopsy specimens should be taken for diagnosis. Nail alterations should also be accurately described and monitored in all patients with biopsy-confirmed CTCL to help identify treatment response and detect disease recurrence.
      Skin Appendage Disord 2015;1:82-86
  • Diagnosis of D-Bifunctional Protein
           Deficiency through Whole-Genome Sequencing: Implications for
           Cost-Effective Care
    • Abstract: D-Bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe disorder of peroxisomal fatty acid oxidation. Nonspecific clinical features may contribute to diagnostic challenges. We describe a newborn female with infantile-onset seizures and nonspecific mild dysmorphisms who underwent extensive genetic workup that resulted in the detection of a novel homozygous mutation (c.302+1_4delGTGA) in the HSD17B4 gene, consistent with a diagnosis of D-bifunctional protein deficiency. By comparing the standard clinical workup to diagnostic analysis performed through research-based whole-genome sequencing (WGS), which independently identified the causative mutation, we demonstrated the ability of genomic sequencing to serve as a timely and cost-effective diagnostic tool for the molecular diagnosis of apparent and occult newborn diseases. As genomic sequencing becomes more available and affordable, we anticipate that WGS and related omics technologies will eventually replace the traditional tiered approach to newborn diagnostic workup.
      Mol Syndromol
  • 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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