Journal of Congenital Disorders
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Down Syndrom

Down Syndrome is a genetic disorder caused when abnormal cell division results in extra genetic material from chromosome 21 which occurs in fetus formation, more specifically in the cell division period. It constitutes a chromosomal abnormality characterised by a series of signs and symptoms. The extra chromosome causes the problems to body and brain the physical features and medical problems associated with Down Syndrome can vary widely from child to child. While some kids with Down Syndrome need a lot of medical attention, others lead healthy lives. Though Down syndrome can't be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated

Down Syndrom

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  • Georgia Torres
    Effect of exercise intervention programs on anthropometric, physiological and cardiometabolic parameters of persons with and without metabolic syndrome
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  • Mandob Enyegue Damaris
    Prevalence of metabolic syndrome among University of Yaounde I campus police workers
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  • Danielle Venturini
    Increased oxidative stress according to number of risk factors in metabolic syndrome patients
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  • Thomas Boldicke
    Recent highlights of in vivo knockdown by intrabodies
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  • Laidoudi Aicha
    Acute renal failure and uveitis, which diagnosis is most likely in internal medicine? Tinu syndrome, through two observations
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  • Emanuele Corongiu
    Role of percutaneous tibial nerve stimulation in the treatment of neurogenic overactive bladder syndrome.
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  • Randhawa Ramanpreet
    Receiver Operating Characteristic curve analysis of Anthropometric Physiological and Biochemical indices and a comparison between four International definitions JSS, mATP-III, IDF and ATP-III for screening Metabolic Syndrome among Pre- and Postmenopausal Rural females of Amritsar (Punjab)
    PPT Version | PDF Version
  • Nisreen K Aref
    To compare serum leptin levels in obese women with polycystic ovary syndrome (PCOS) and normal ovulatory obese subjects in Saudi Arabia, and to evaluate the interrelationship between leptin concentration, sex hormones, and insulin resistance.
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  • Monica C Chuong
    Bioprocess Development Upstream and Downstream Technologies
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  • Yosef Yarden
    Classically, the 3’untranslated region (3’UTR) is that region in eukaryotic protein-coding genes from the translation termination codon to the polyA signal. It is transcribed as an integral part of the mRNA encoded by the gene. However, there exists another kind of RNA, which consists of the 3’UTR alone, without all other elements in mRNA such as 5’UTR and coding region. The importance of independent 3’UTR RNA (referred as I3’UTR) was prompted by results of artificially introducing such RNA species into malignant mammalian cells. Since 1991, we found that the middle part of the 3’UTR of the human nuclear factor for interleukin-6 (NF-IL6) or C/EBP gene exerted tumor suppression effect in vivo. Our subsequent studies showed that transfection of C/EBP 3’UTR led to down-regulation of several genes favorable for malignancy and to up-regulation of some genes favorable for phenotypic reversion. Also, it was shown that the sequences near the termini of the C/EBP 3’UTR were important for its tumor suppression activity. Then, the C/EBP 3’UTR was found to directly inhibit the phosphorylation activity of protein kinase CPKC in SMMC-7721, a hepatocarcinoma cell line. Recently, an AU-rich region in the C/EBP 3’UTR was found also to be responsible for its tumor suppression. Recently we have also found evidence that the independent C/EBP 3’UTR RNA is actually exists in human tissues, such as fetal liver and heart, pregnant uterus, senescent fibroblasts etc. Through 1990’s to 2000’s, world scientists found several 3’UTR RNAs that functioned as artificial independent RNAs in cancer cells and resulted in tumor suppression. Interestingly, majority of genes for these RNAs have promoter-like structures in their 3’UTR regions, although the existence of their transcribed products as independent 3’UTR RNAs is still to be confirmed. Our studies indicate that the independent 3’UTR RNA is a novel non-coding RNA species whose function should be the regulation not of the expression of their original mRNA, but of some essential life activities of the cell as a whole.
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  • Elena Rampanelli
    Renal dysfunction and metabolic syndrome: the chicken or the egg?
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  • David Stejskal
    New marker of metabolic syndrome
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  • Vladimir Obolensky
    No-air-plasma currents and ozone therapy in treatment of patients with diabetic foot syndrome
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  • Wentao Zhou
    Patient centered transitional care for patients transferred from Intensive Care Unit (ICU) to step-down care unit: A mixed method study
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  • Kirill Shlyapnikov
    Fibromyalgia and chronic fatigue syndrome (CFS): translational biomarkers as applicable to monitor and to predict clinical manifestations
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  • Ljudmila Stojanovich
    The risk of thrombosis in patients with antiphospholipid syndrome: Influence of antiphospholipid antibody type and levels
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  • Tamer I Mahmoud
    Early Life Intervention Diminishes Manifestations of Sjögren's Syndrome in NOD.H-2h4 mice
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  • Calsolaro Valeria
    METABOLIC SYNDROME, NEUROINFLAMMATION AND COGNITIVE IMPAIRMENT: STATE OF THE ART AND DATA FROM A SECOND LEVEL OUTPATIENT CLINIC IN ITALY
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  • Roger W Beuerman
    Breaking down barriers to promote effective antibiotic action
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  • Mariana Artimos da Matta Tenorio
    Wilkie’s Syndrome: A Case Report
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  • Alex Constantinescu
    Strategies to minimize growth retardation in children with Steroid-sensitive nephrotic syndrome
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  • Irma Esther Del Moral Espinosa
    Effectiveness of combination prednisone tacrolimus compared with prednisone -cyclosporine in treatment steroid-resistant nephrotic syndrome
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  • Pupalan Iyngkaran
    Region Specific Cardiology Perspectives on the Cardiorenal Syndrome – Challenges and Solutions
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  • Sandra Rasmussen
    Live well: A recovery model for addiction and other reward deficiency syndrome
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  • Rafael Correa-Rocha
    HIV infection of Human regulatory T cells (Treg) downregulates Foxp3 expression and produces a loss of the suppressive capacity of these cells
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  • Emmanuel C. Besa
    New opportunities in a personalized approach to the preleukemic phase of myelodysplastic syndrome and acute myelogenous leukemia
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  • Amera Elzubier
    Lemierres syndrome: The forgotten disease? A case report
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  • Malgorzata Lipinska Gediga
    Endothelium as a part of septic Multiple Organ Dysfunction Syndrome (MODS)-is endocan an answer ?
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  • Martha M Sklavos
    Anti-Müllerian hormone deficiency in females with inherited bone marrow failure syndromes
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  • Tao Wu
    The association between TCM syndromes and SCAP polymorphisms insubjects with non-alcoholic fatty liver disease
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  • Galya Naydenova Atanasova
    Pulse pressure and apolipoprotein B/Apolipoprotein A1 in relation to the metabolic syndrome and its components
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  • Edward Rojas
    Targeting Hypertension in Patients with the Cardio-Renal Metabolic Syndrome
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