LIVIVO - Das Suchportal für Lebenswissenschaften

switch to English language
Zurück zur letzten Suche Suchhistorie
Erweiterte Suche

Ihre letzten Suchen

  1. AU="Davidoff, Dahlia F"
  2. AU=Endo A
  3. AU="Chunlei Yu"
  4. AU="Nagao, Asuteka"
  5. AU="Derwael, Céline" AU="Derwael, Céline"
  6. AU="Yao, Yang"
  7. AU=Strutz Frank
  8. AU="Won-Sang Lee"
  9. AU="the ICHseq Investigators" AU="the ICHseq Investigators"
  10. AU="Green, J G"
  11. AU="Xinguang Yang"
  12. AU="Masamed, Rinat"
  13. AU="Flores-Estrada, Diana"
  14. AU="Castellanos, Jason A"
  15. AU="Kiberd, Bryce A"
  16. AU="Kaushal, Deepak"
  17. AU="Rouzaire, Paul"
  18. AU="Mohammed A. S. Abourehab"
  19. AU="Basa, S."
  20. AU="Rohner, Eliane"
  21. AU="Abu-Mahfouz, Adnan M"
  22. AU="Falanti, Andrea"
  23. AU="Yujing Dang"
  24. AU="Clare Duncan"
  25. AU="Calvo Soto, Andrea Patricia"
  26. AU="Joanna I. Olszewska"
  27. AU="Francesco Cavallieri"
  28. AU="Betaieb, Ehssen"
  29. AU="Fan, Xiaoyu"
  30. AU="Riveros-Magaña, Alma Rocío"
  31. AU="Zhang, Wei-Fen"
  32. AU="Ciuca, Catrinel"
  33. AU="Friend, James R"
  34. AU="Colin R. Jackson"
  35. AU="Messina, Claudia"
  36. AU="Faircloth, Chelsey"
  37. AU="Md. Zabirul Islam" AU="Md. Zabirul Islam"
  38. AU="Butcher, Xochitl"
  39. AU="Espay, Alberto J."

Suchergebnis

Treffer 1 - 6 von insgesamt 6

Suchoptionen

  1. Artikel ; Online: Failure of Oral Risedronate Therapy to Prevent Spontaneous Vertebral Fracture in a Patient Ceasing Denosumab: A Cautionary Case.

    Davidoff, Dahlia F / Girgis, Christian M

    JBMR plus

    2020  Band 4, Heft 10, Seite(n) e10396

    Abstract: Denosumab is a highly effective treatment for postmenopausal osteoporosis, significantly improving BMD and reducing risk of fracture. However, denosumab's effect is transient with the risk of a rebound increase in bone turnover following withdrawal of ... ...

    Abstract Denosumab is a highly effective treatment for postmenopausal osteoporosis, significantly improving BMD and reducing risk of fracture. However, denosumab's effect is transient with the risk of a rebound increase in bone turnover following withdrawal of this potent RANKL inhibitor. This poses challenges, particularly in individuals seeking to discontinue denosumab, such as those experiencing a direct complication of prolonged antiresorptive therapy or those in whom an antiresorptive drug holiday would be ordinarily considered. Bisphosphonate strategies to mitigate postdenosumab bone loss are being actively studied. We describe the case of a 73-year-old woman who developed a spontaneous vertebral fracture following denosumab discontinuation, despite prolonged treatment with bisphosphonate therapy both before her course of denosumab (20 years of use) and following denosumab discontinuation (1 year of use). This is a cautionary case seeking to highlight uncertainties around the safe withdrawal of denosumab therapy despite intervening treatment with bisphosphonates. © 2020 The Authors.
    Sprache Englisch
    Erscheinungsdatum 2020-08-21
    Erscheinungsland England
    Dokumenttyp Case Reports
    ISSN 2473-4039
    ISSN (online) 2473-4039
    DOI 10.1002/jbm4.10396
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

    Fernleihe an ZB MED

    Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.

  2. Artikel ; Online: Outcomes of SDHB pathogenic variant carriers: A systematic review and meta-analysis.

    Davidoff, Dahlia F / De Abreu Lourenco, Richard / Tsang, Venessa H M / Benn, Diana E / Clifton-Bligh, Roderick J

    The Journal of clinical endocrinology and metabolism

    2024  

    Abstract: Context: Carriers of germline pathogenic variants (PV) in succinate dehydrogenase type B (SDHB) are at increased risk of developing pheochromocytomas and paragangliomas (PPGL). Understanding their outcomes can guide recommendations for risk assessment ... ...

    Abstract Context: Carriers of germline pathogenic variants (PV) in succinate dehydrogenase type B (SDHB) are at increased risk of developing pheochromocytomas and paragangliomas (PPGL). Understanding their outcomes can guide recommendations for risk assessment and early detection.
    Objective: We performed a systematic review and meta-analysis of the following outcomes in SDHB PV carriers: age-specific risk of developing tumors, metastatic progression, second primary tumor development, and mortality.
    Materials and methods: Pubmed, MEDLINE and EMBASE were searched. Sixteen studies met the inclusion criteria and were sorted into four outcome categories: age-specific penetrance, metastatic disease, risk of second tumour and mortality. We assessed heterogeneity and performed a meta-analysis across studies using a random effects model with the DerSimonian and Laird method.
    Results: Penetrance of PPGL for non-proband/non-index SDHB PV carriers by age 20 was 4% (95% CI, 3%-6%), 11% (95% CI, 8%-15%) by age 40, 24% (95% CI, 19%-31%) by age 60 and 35% (95% CI, 25%-47%) by age 80. The overall risk of metastatic disease for non-proband/non-index carriers with PPGL was 9% (95% CI, 5-16%) per lifetime. In all affected cases (combining both proband/index and non-proband/non-index carriers with tumors), the risk of a second tumor was 24% (95% CI, 18-31%) and all cause 5-year mortality was 18% (95% CI 6-40%).
    Conclusion: Penetrance for PPGL in SDHB PV carriers increases linearly with age. Affected carriers are at risk of developing and dying from metastatic disease, or of developing second tumors. Lifelong surveillance is appropriate.
    Sprache Englisch
    Erscheinungsdatum 2024-04-12
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgae233
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Uh III Zs.134: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  3. Artikel ; Online: Distortion in transmission of pathogenic SDHB- and SDHD-mutated alleles from parent to offspring.

    Davidoff, Dahlia F / Lim, Eugénie S / Benn, Diana E / Subramaniam, Yuvanaa / Dorman, Eleanor / Burgess, John R / Akker, Scott A / Clifton-Bligh, Roderick J

    Endocrine-related cancer

    2023  Band 30, Heft 5

    Abstract: Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs's cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is assumed ...

    Abstract Phaeochromocytoma and paraganglioma are highly heritable tumours; half of those associated with a germline mutation are caused by mutations in genes for Krebs's cycle enzymes, including succinate dehydrogenase (SDH). Inheritance of SDH alleles is assumed to be Mendelian (probability of 50% from each parent). The departure from transmission of parental alleles in a ratio of 1:1 is termed transmission ratio distortion (TRD). We sought to assess whether TRD occurs in the transmission of SDHB pathogenic variants (PVs). This study was conducted with 41 families of a discovery cohort from Royal North Shore Hospital, Australia, and 41 families from a validation cohort from St. Bartholomew's Hospital, United Kingdom (UK). Inclusion criteria were a clinically diagnosed SDHB PV and a pedigree available for at least two generations. TRD was assessed in 575 participants with the exact binomial test. The transmission ratio for SDHB PV was 0.59 (P = 0.005) in the discovery cohort, 0.67 (P < 0.001) in the validation cohort, and 0.63 (P < 0.001) in the combined cohort. No parent-of-origin effect was observed. TRD remained significant after adjusting for potential confounders: 0.67 (P < 0.001) excluding families with incomplete family size data; 0.58 (P < 0.001) when probands were excluded. TRD was also evident for SDHD PVs in a cohort of 81 patients from 13 families from the UK. The reason for TRD of SDHB and SDHD PVs is unknown, but we hypothesize a survival advantage selected during early embryogenesis. The existence of TRD for SDHB and SDHD has implications for reproductive counselling, and further research into the heterozygote state.
    Mesh-Begriff(e) Humans ; Adrenal Gland Neoplasms/genetics ; Alleles ; Germ-Line Mutation ; Paraganglioma/genetics ; Pheochromocytoma/genetics ; Succinate Dehydrogenase/genetics ; Inheritance Patterns
    Chemische Substanzen SDHB protein, human (EC 1.3.5.1) ; SDHD protein, human ; Succinate Dehydrogenase (EC 1.3.99.1)
    Sprache Englisch
    Erscheinungsdatum 2023-04-06
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1218450-0
    ISSN 1479-6821 ; 1351-0088
    ISSN (online) 1479-6821
    ISSN 1351-0088
    DOI 10.1530/ERC-22-0233
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 4192: Hefte anzeigen Standort:
    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)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  4. Artikel ; Online: Measuring Tumor Succinate and Fumarate to Resolve Pathogenicity of an SDHA Variant.

    Davidoff, Dahlia F / Luxford, Catherine / Kim, Edward / Novos, Talia / Horvath, Andrea R / Gill, Anthony J / Dwight, Trisha / Clifton-Bligh, Roderick J / Burgess, John R

    Clinical chemistry

    2023  Band 67, Heft 4, Seite(n) 696–699

    Sprache Englisch
    Erscheinungsdatum 2023-03-04
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1093/clinchem/hvab004
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Ud II Zs.171: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  5. Artikel ; Online: Surveillance Improves Outcomes for Carriers of SDHB Pathogenic Variants: A Multicenter Study.

    Davidoff, Dahlia F / Benn, Diana E / Field, Michael / Crook, Ashley / Robinson, Bruce G / Tucker, Katherine / De Abreu Lourenco, Richard / Burgess, John R / Clifton-Bligh, Roderick J

    The Journal of clinical endocrinology and metabolism

    2022  Band 107, Heft 5, Seite(n) e1907–e1916

    Abstract: Context: Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is widely recommended carriers enter a surveillance program to detect tumors, but there ... ...

    Abstract Context: Carriers of succinate dehydrogenase type B (SDHB) pathogenic variants (PVs) are at risk of pheochromocytoma and paraganglioma (PPGL) from a young age. It is widely recommended carriers enter a surveillance program to detect tumors, but there are limited studies addressing outcomes of surveillance protocols for SDHB PV carriers.
    Objective: The purpose of this study was to describe surveillance-detected (s-d) tumors in SDHB PV carriers enrolled in a surveillance program and to compare their outcomes to probands.
    Methods: This was a multicenter study of SDHB PV carriers with at least 1 surveillance episode (clinical, biochemical, imaging) in Australian genetics clinics. Data were collected by both retrospective and ongoing prospective follow-up. Median duration of follow-up was 6.0 years.
    Results: 181 SDHB PV carriers (33 probands and 148 nonprobands) were assessed. Tumors were detected in 20% of nonprobands undergoing surveillance (age range 9-76 years). Estimated 10-year metastasis-free survival was 66% for probands and 84% for nonprobands with s-d tumors (P = .027). S-d tumors were smaller than those in probands (median 27 mm vs 45 mm respectively, P = .001). Tumor size ≥40 mm was associated with progression to metastatic disease (OR 16.9, 95% CI 2.3-187.9, P = .001). Patients with s-d tumors had lower mortality compared to probands: 10-year overall survival was 79% for probands and 100% for nonprobands (P = .029).
    Conclusion: SDHB carriers with s-d tumors had smaller tumors, reduced risk of metastatic disease, and lower mortality than probands. Our results suggest that SDHB PV carriers should undertake surveillance to improve clinical outcomes.
    Mesh-Begriff(e) Adolescent ; Adrenal Gland Neoplasms/epidemiology ; Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/pathology ; Adult ; Aged ; Australia/epidemiology ; Child ; Germ-Line Mutation ; Humans ; Middle Aged ; Mutation ; Paraganglioma/diagnosis ; Paraganglioma/epidemiology ; Paraganglioma/genetics ; Prospective Studies ; Retrospective Studies ; Succinate Dehydrogenase/genetics ; Young Adult
    Chemische Substanzen SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Sprache Englisch
    Erscheinungsdatum 2022-01-17
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgac019
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Uh III Zs.134: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  6. Artikel: Twin-twin transfusion syndrome and twin anemia-polycythemia sequence in a monochorionic triamniotic pregnancy.

    Davidoff, Dahlia F / Dickinson, Jan E / Warner, Teresa / Pennell, Craig E

    Twin research and human genetics : the official journal of the International Society for Twin Studies

    2013  Band 16, Heft 3, Seite(n) 716–719

    Abstract: Twin-twin transfusion syndrome (TTTS) is an antenatal complication of monochorionic multiple gestations. There have been few studies exploring the role of laser photocoagulation or outcomes following treatment in monochorionic triplet pregnancies with ... ...

    Abstract Twin-twin transfusion syndrome (TTTS) is an antenatal complication of monochorionic multiple gestations. There have been few studies exploring the role of laser photocoagulation or outcomes following treatment in monochorionic triplet pregnancies with TTTS. We present a case where TTTS and twin anemia-polycythemia sequence (TAPS) complicated a monochorionic triplet pregnancy. Following the laser photocoagulation to treat the TTTS between the triplets, an intra-uterine death occurred in one triplet and TAPS developed in the remaining two triplets. Intervention in this case resulted in a 2-week prolongation of pregnancy and a positive outcome for the remaining fetuses. This case and other published data reviewed in this article suggest that laser photocoagulation has a potential role for TTTS in monochorionic triplet pregnancies.
    Mesh-Begriff(e) Adult ; Anemia/complications ; Anemia/surgery ; Female ; Fetofetal Transfusion/complications ; Fetofetal Transfusion/surgery ; Humans ; Laser Coagulation ; Polycythemia/complications ; Polycythemia/surgery ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Triplet
    Sprache Englisch
    Erscheinungsdatum 2013-06
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2182682-1
    ISSN 1839-2628 ; 1832-4274
    ISSN (online) 1839-2628
    ISSN 1832-4274
    DOI 10.1017/thg.2013.13
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 5127: Hefte anzeigen Standort:
    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)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

Zum Seitenanfang