LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Back to previous search Search history
Advanced search

Your last searches

  1. AU="Kogan, Elena"
  2. AU="Vaz, V R"

Search results

Result 1 - 6 of total 6

Search options

  1. Article ; Online: Abdominal muscle weakness as a presenting symptom in GNE myopathy.

    Barel, Ortal / Kogan, Elena / Sadeh, Menachem / Kol, Nitzan / Nayschool, Omri / Benninger, Felix

    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

    2018  Volume 59, Page(s) 316–317

    Language English
    Publishing date 2018-11-03
    Publishing country Scotland
    Document type Journal Article
    ZDB-ID 1193674-5
    ISSN 1532-2653 ; 0967-5868
    ISSN (online) 1532-2653
    ISSN 0967-5868
    DOI 10.1016/j.jocn.2018.10.122
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3999: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.

    Fellner, Avi / Lossos, Alexander / Kogan, Elena / Argov, Zohar / Gonzaga-Jauregui, Claudia / Shuldiner, Alan R / Darawshe, Malak / Bazak, Lily / Lidzbarsky, Gabriel / Shomron, Noam / Basel-Salmon, Lina / Goldberg, Yael

    Clinical genetics

    2021  Volume 99, Issue 5, Page(s) 713–718

    Abstract: POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The ... ...

    Abstract POLR3A encodes the largest subunit of the DNA-dependent RNA polymerase III. Pathogenic variants in this gene are associated with dysregulation of tRNA production and other non-coding RNAs. POLR3A-related disorders include variable phenotypes. The genotype-phenotype correlation is still unclear. Phenotypic analysis and exome sequencing were performed in four affected siblings diagnosed clinically with hereditary spastic ataxia, two healthy siblings and their unaffected mother. All four affected siblings (ages 46-55) had similar clinical features of early childhood-onset hypodontia and adolescent-onset progressive spastic ataxia. None had progeria, gonadal dysfunction or dysmorphism. All affected individuals had biallelic POLR3A pathogenic variants composed by two cis-acting intronic splicing-altering variants, c.1909 + 22G > A and c.3337-11 T > C. The two healthy siblings had wild-type alleles. The mother and another unaffected sibling were heterozygous for the allele containing both variants. This is the first report addressing the clinical consequence associated with homozygosity for a unique pathogenic intronic allele in the POLR3A gene. This allele was previously reported in compound heterozygous combinations in patients with Wiedemann-Rautenstrauch syndrome, a severe progeroid POLR3A-associated phenotype. We show that homozygosity for this allele is associated with spastic ataxia with hypodontia, and not with progeroid features. These findings contribute to the characterization of genotype-phenotype correlation in POLR3A-related disorders.
    MeSH term(s) Alleles ; Anodontia/complications ; Anodontia/diagnostic imaging ; Anodontia/enzymology ; Anodontia/genetics ; DNA Mutational Analysis ; Female ; Frameshift Mutation ; Humans ; Intellectual Disability/complications ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/enzymology ; Intellectual Disability/genetics ; Introns/genetics ; Male ; Middle Aged ; Muscle Spasticity/complications ; Muscle Spasticity/diagnostic imaging ; Muscle Spasticity/enzymology ; Muscle Spasticity/genetics ; Optic Atrophy/complications ; Optic Atrophy/diagnostic imaging ; Optic Atrophy/enzymology ; Optic Atrophy/genetics ; RNA Polymerase III/genetics ; Spinocerebellar Ataxias/complications ; Spinocerebellar Ataxias/diagnostic imaging ; Spinocerebellar Ataxias/enzymology ; Spinocerebellar Ataxias/genetics
    Chemical Substances POLR3A protein, human (EC 2.7.7.6) ; RNA Polymerase III (EC 2.7.7.6)
    Language English
    Publishing date 2021-02-15
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.13929
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 413: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Ectopic Muscle Expression of Neurotrophic Factors Improves Recovery After Nerve Injury.

    Glat, Micaela Johanna / Benninger, Felix / Barhum, Yael / Ben-Zur, Tali / Kogan, Elena / Steiner, Israel / Yaffe, David / Offen, Daniel

    Journal of molecular neuroscience : MN

    2016  Volume 58, Issue 1, Page(s) 39–45

    Abstract: Sciatic nerve damage is a common medical problem. The main causes include direct trauma, prolonged external nerve compression, and pressure from disk herniation. Possible complications include leg numbness and the loss of motor control. In mild cases, ... ...

    Abstract Sciatic nerve damage is a common medical problem. The main causes include direct trauma, prolonged external nerve compression, and pressure from disk herniation. Possible complications include leg numbness and the loss of motor control. In mild cases, conservative treatment is feasible. However, following severe injury, recovery may not be possible. Neuronal regeneration, survival, and maintenance can be achieved by neurotrophic factors (NTFs). In this study, we examined the potency of combining brain-derived neurotrophic factor (BDNF), glial-derived neurotrophic factor (GDNF), vascular endothelial growth factor (VEGF), and insulin-like growth factor-1 (IGF-1) on the recovery of motor neuron function after crush injury of the sciatic nerve. We show that combined NTF application increases the survival of motor neurons exposed to a hypoxic environment. The ectopic expression of NTFs in the injured muscle improves the recovery of the sciatic nerve after crush injury. A significantly faster recovery of compound muscle action potential (CMAP) amplitude and conduction velocity is observed after muscle injections of viral vectors expressing a mixture of the four NTF genes. Our findings suggest a rationale for using genetic treatment with a combination of NTF-expressing vectors, as a potential therapeutic approach for severe peripheral nerve injury.
    MeSH term(s) Action Potentials ; Animals ; Brain-Derived Neurotrophic Factor/pharmacology ; Brain-Derived Neurotrophic Factor/therapeutic use ; Cell Line ; Genetic Therapy ; Glial Cell Line-Derived Neurotrophic Factor/pharmacology ; Glial Cell Line-Derived Neurotrophic Factor/therapeutic use ; Humans ; Insulin-Like Growth Factor I/pharmacology ; Insulin-Like Growth Factor I/therapeutic use ; Male ; Mice ; Mice, Inbred C57BL ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/physiology ; Nerve Regeneration/drug effects ; Peripheral Nerve Injuries/drug therapy ; Recovery of Function ; Sciatic Nerve/drug effects ; Sciatic Nerve/injuries ; Sciatic Nerve/physiology ; Vascular Endothelial Growth Factor A/pharmacology ; Vascular Endothelial Growth Factor A/therapeutic use
    Chemical Substances Brain-Derived Neurotrophic Factor ; Glial Cell Line-Derived Neurotrophic Factor ; Vascular Endothelial Growth Factor A ; Insulin-Like Growth Factor I (67763-96-6)
    Language English
    Publishing date 2016-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1043392-2
    ISSN 1559-1166 ; 0895-8696
    ISSN (online) 1559-1166
    ISSN 0895-8696
    DOI 10.1007/s12031-015-0648-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3006: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Neurologic complications of immune checkpoint inhibitors.

    Fellner, Avi / Makranz, Chen / Lotem, Michal / Bokstein, Felix / Taliansky, Alisa / Rosenberg, Shai / Blumenthal, Deborah T / Mandel, Jacob / Fichman, Suzana / Kogan, Elena / Steiner, Israel / Siegal, Tali / Lossos, Alexander / Yust-Katz, Shlomit

    Journal of neuro-oncology

    2018  Volume 137, Issue 3, Page(s) 601–609

    Abstract: Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of toxicity and cause immune-related side effects which can involve any organ including the ... ...

    Abstract Immune checkpoint inhibitors (ICPIs) have recently emerged as a novel treatment for cancer. These agents, transforming the field of oncology, are not devoid of toxicity and cause immune-related side effects which can involve any organ including the nervous system. In this study, we present 9 patients (7 men and 2 women) with neurologic complications secondary to ICPI treatment. These included meningoencephalitis, limbic encephalitis, polyradiculitis, cranial polyneuropathy, myasthenic syndrome and myositis. Four patients received dual ICPI therapy comprised of programmed cell death-1 and cytotoxic lymphocyte associated protein-4 blocking antibodies. Median time to onset of neurologic adverse event during immune checkpoint inhibitor treatment was 8 weeks (range 5 days-19 weeks). In all patients ICPIs were stopped and corticosteroids were initiated, resulting in a marked improvement in seven out of nine patients. Two patients, one with myositis and one with myasthenic syndrome, died. In two patients ICPI therapy was resumed after resolution of the neurological adverse event with no additional neurologic complications. This series highlights the very broad spectrum of neurological complications of ICPIs, emphasizes the need for expedited diagnosis and suggests that withholding treatment early, accompanied with steroid therapy, carries the potential of complete resolution of the neurological immune-mediated condition. Thus, a high level of suspicion and rapid initiation of corticosteroids are mandatory to prevent uncontrolled clinical deterioration, which might be fatal.
    MeSH term(s) Adult ; Aged ; Antineoplastic Agents, Immunological/adverse effects ; Antineoplastic Agents, Immunological/therapeutic use ; Fatal Outcome ; Female ; Humans ; Immunologic Factors/adverse effects ; Immunologic Factors/therapeutic use ; Male ; Middle Aged ; Neoplasms/drug therapy ; Nervous System Diseases/diagnosis ; Nervous System Diseases/etiology ; Nervous System Diseases/mortality ; Nervous System Diseases/pathology ; Retrospective Studies ; Time Factors ; Young Adult
    Chemical Substances Antineoplastic Agents, Immunological ; Immunologic Factors
    Language English
    Publishing date 2018-01-13
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 604875-4
    ISSN 1573-7373 ; 0167-594X
    ISSN (online) 1573-7373
    ISSN 0167-594X
    DOI 10.1007/s11060-018-2752-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1825: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  5. Article ; Online: The impact of transient and persistent acute kidney injury on long-term outcomes after acute myocardial infarction.

    Goldberg, Alexander / Kogan, Elena / Hammerman, Haim / Markiewicz, Walter / Aronson, Doron

    Kidney international

    2009  Volume 76, Issue 8, Page(s) 900–906

    Abstract: Acute kidney injury is a common complication of acute myocardial infarction and is generally associated with adverse outcomes. We studied the incidence and clinical significance of transient versus persistent acute kidney injury in 1957 patients who ... ...

    Abstract Acute kidney injury is a common complication of acute myocardial infarction and is generally associated with adverse outcomes. We studied the incidence and clinical significance of transient versus persistent acute kidney injury in 1957 patients who survived an ST-elevation acute myocardial infarction. We divided the patients into 5 groups based on changes in serum creatinine level during hospitalization. Mild acute kidney injury (creatinine 0.3-0.49 mg/dl above baseline) occurred in 156 patients and was transient (resolved during their hospital stay) in 61. Moderate/severe acute kidney injury (creatinine more than or 0.5 mg/dl above baseline) was found in 138 patients and was transient in 60. Compared to patients without acute kidney injury, the adjusted hazard ratio for mortality was 1.2 in patients with mild, transient acute kidney injury and 1.8 in patients with mild, persistent injury where the creatinine remained elevated. Patients with persistent moderate/severe acute kidney injury had the highest mortality (hazard ratio 2.4), whereas patients with transient moderate/severe injury had an intermediate risk (hazard ratio of 1.7). A similar relationship was present between acute kidney injury and admissions for heart failure. Our study shows that dynamic changes in renal function during acute myocardial infarction are strongly related to long-term mortality and heart failure.
    MeSH term(s) Acute Disease ; Aged ; Aged, 80 and over ; Biomarkers/blood ; Creatinine/blood ; Female ; Glomerular Filtration Rate ; Heart Failure/blood ; Heart Failure/etiology ; Heart Failure/mortality ; Heart Failure/physiopathology ; Humans ; Incidence ; Kaplan-Meier Estimate ; Kidney Diseases/blood ; Kidney Diseases/etiology ; Kidney Diseases/mortality ; Kidney Diseases/physiopathology ; Logistic Models ; Male ; Middle Aged ; Myocardial Infarction/blood ; Myocardial Infarction/complications ; Myocardial Infarction/mortality ; Myocardial Infarction/physiopathology ; Myocardial Infarction/therapy ; Odds Ratio ; Patient Readmission ; Proportional Hazards Models ; Recurrence ; Retrospective Studies ; Risk Assessment ; Risk Factors ; Severity of Illness Index ; Time Factors ; Treatment Outcome
    Chemical Substances Biomarkers ; Creatinine (AYI8EX34EU)
    Language English
    Publishing date 2009-10
    Publishing country United States
    Document type Comparative Study ; Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1038/ki.2009.295
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 797: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article: Single-dose quinolone treatment in acute gastroenteritis.

    Zamir, Doron / Weiler, Zeev / Kogan, Elena / Ben-Valid, Eli / Hay, Emile / Reitblat, Tatiana / Polishchuk, Ilia

    Journal of clinical gastroenterology

    2006  Volume 40, Issue 3, Page(s) 186–190

    Abstract: Background: Acute diarrhea is a common disease worldwide and in Israel, a Mediterranean country. Acute bacterial gastroenteritis (ABGE) is the leading cause of severe diarrhea in Israel in summer and early autumn. Although there are some reports showing ...

    Abstract Background: Acute diarrhea is a common disease worldwide and in Israel, a Mediterranean country. Acute bacterial gastroenteritis (ABGE) is the leading cause of severe diarrhea in Israel in summer and early autumn. Although there are some reports showing some benefit from empiric antibiotic therapy in acute gastroenteritis, most are old reports using nondefinitive diagnostic criteria and using 5-day antibiotic regimens.
    Aims: 1. To examine the efficiency of antibiotic therapy in relatively severe ABGE in general. 2. To check the efficiency of the different types of quinolones in the treatment of ABGE. 3. To compare various therapy regimens.
    Methods: All patients admitted to the Barzilai Medical Center emergency room during the period June to October in 2002-2004 who were defined by protocol as having relatively severe gastroenteritis and required hospitalization in the Department of Internal Medicine were included in the study. All were randomized either to a supportive treatment only group (STG) or to the antibiotic treatment group (ATG) of ofloxacin or levofloxacin with a single dose or BID for 5 days in addition to STGs. All patients were interviewed a week later about their medical history and duration of symptomatology.
    Results: One hundred thirty-nine patients were found eligible for the study in the above-mentioned period. Abdominal pain resolved 1.3 days earlier in the ATG in comparison to the STG whereas vomiting and diarrhea disappeared 1.0 and 0.8 days earlier, respectively, in the ATG versus the STG. In terms of fever abatement there was no difference between the regimens and no significant difference in symptomatology disappearance between various types of quinolones used or between the single antibiotic dose regimen and the 5-day antibiotic regimen groups.
    Conclusions: 1. Antibiotic therapy was found to shorten duration of symptoms in patients with relatively severe gastroenteritis. 2. Single-dose therapy is as effective and certainly significantly more cost effective in comparison to the 5-day antibiotic treatment regimen.
    MeSH term(s) Acute Disease ; Adult ; Analysis of Variance ; Anti-Bacterial Agents/therapeutic use ; Diarrhea/drug therapy ; Diarrhea/microbiology ; Female ; Gastroenteritis/drug therapy ; Gastroenteritis/microbiology ; Humans ; Israel ; Levofloxacin ; Male ; Middle Aged ; Ofloxacin/therapeutic use ; Surveys and Questionnaires ; Treatment Outcome
    Chemical Substances Anti-Bacterial Agents ; Levofloxacin (6GNT3Y5LMF) ; Ofloxacin (A4P49JAZ9H)
    Language English
    Publishing date 2006-04-20
    Publishing country United States
    Document type Journal Article ; Randomized Controlled Trial
    ZDB-ID 448460-5
    ISSN 1539-2031 ; 0192-0790
    ISSN (online) 1539-2031
    ISSN 0192-0790
    DOI 10.1097/00004836-200603000-00003
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1523: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top