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  1. Article ; Online: Exploring formal and informal learning opportunities during morning report: a qualitative study.

    Møller, Jane Ege / Skipper, Mads / Sunde, Lone / Sørensen, Anita / Balslev, Thomas / Malling, Bente Vigh

    BMC medical education

    2024  Volume 24, Issue 1, Page(s) 184

    Abstract: Background: Morning reports are an essential component of physicians' daily work. Attending morning reports is prioritized by junior doctors as it provides them with an opportunity to learn diagnostic reasoning through discussion of cases. While ... ...

    Abstract Background: Morning reports are an essential component of physicians' daily work. Attending morning reports is prioritized by junior doctors as it provides them with an opportunity to learn diagnostic reasoning through discussion of cases. While teaching formats during morning reports have previously been reported, an in-depth analysis of what learning opportunities exist, e.g., how teaching is enacted during morning reports, is lacking. This qualitative study explores learning opportunities during morning reports.
    Methods: We used an explorative design based on video-recordings of 23 morning reports from two surgical departments, an internal medicine department and an emergency department. We used thematic analysis combined with and inspired by Eraut's theoretical framework of workplace learning.
    Results: Both formal and informal learning opportunities were identified. Formal learning opportunities had the character of planned teaching activities, and we identified four themes: (1) modes of teaching, (2) structure, (3) presenter role, and (4) participant involvement. Informal learning, on the other hand, was often implicit and reactive, while deliberate learning opportunities were rare. The data showed many missed opportunities for learning.
    Conclusion: Both formal and informal learning opportunities are present during morning reports. However, a prevalent focus on medical topics exists, leaving other important aspects of the medical role under-discussed. Pedagogical methods could be employed more optimally, and harnessing the potential of missed opportunities should be encouraged.
    MeSH term(s) Humans ; Teaching Rounds ; Qualitative Research ; Learning ; Physicians
    Language English
    Publishing date 2024-02-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 2044473-4
    ISSN 1472-6920 ; 1472-6920
    ISSN (online) 1472-6920
    ISSN 1472-6920
    DOI 10.1186/s12909-024-05151-5
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  2. Article ; Online: When to consult a geneticist specialising in gestational trophoblastic disease.

    McMahon, Lesley / Maher, Geoffrey J / Joyce, Caroline / Niemann, Isa / Fisher, Rosemary / Sunde, Lone

    Gynecologic and obstetric investigation

    2023  

    Abstract: Background: Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products ... ...

    Abstract Background: Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products of conception, such features are not always present, especially at early stages of pregnancy. Furthermore, mosaic/chimeric pregnancies and twin pregnancies make pathological diagnosis challenging while trophoblastic tumours can also pose diagnostic problems in terms of their gestational or non-gestational origin.
    Objectives: To show that ancillary genetic testing can be used to aid diagnosis and clinical management of GTD.
    Methods: Each author identified cases where genetic testing, including short tandem repeat (STR) genotyping, ploidy analysis, next generation sequencing and immunostaining for p57, the product of the imprinted gene CDKN1C, facilitated accurate diagnosis and improved patient management. Representative cases were chosen to illustrate the value of ancillary genetic testing in different scenarios.
    Outcome: Genetic analysis of placental tissue can aid in determining the risk of developing gestational trophoblastic neoplasia, facilitating discrimination between low risk triploid (partial) and high risk androgenetic (complete) moles, discriminating between a hydatidiform mole twinned with a normal conceptus and a triploid conception and identification of androgenetic/biparental diploid mosaicism. STR genotyping of placental tissue and targeted gene sequencing of patients can identify women with an inherited predisposition to recurrent molar pregnancies. Genotyping can distinguish gestational from non-gestational trophoblastic tumours using tissue or circulating tumour DNA, and can also identify the causative pregnancy which is the key prognostic factor for placental site and epithelioid trophoblastic tumours.
    Conclusions and outlook: STR genotyping and P57 immunostaining have been invaluable to the management of gestational trophoblastic disease in many situations. The use of next generation sequencing and of liquid biopsies are opening up new pathways for GTD diagnostics. Development of these techniques has the potential to identify novel biomarkers of GTD and further refine diagnosis.
    Language English
    Publishing date 2023-05-26
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 800003-7
    ISSN 1423-002X ; 0378-7346
    ISSN (online) 1423-002X
    ISSN 0378-7346
    DOI 10.1159/000531218
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    Zs.A 688: Show issues Location:
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  3. Article ; Online: How doctors build community and socialize into a clinical department through morning reports. A positioning theory study.

    Møller, Jane Ege / Skipper, Mads / Sunde, Lone / Sørensen, Anita / Balslev, Thomas / Andreassen, Pernille / Malling, Bente

    PloS one

    2023  Volume 18, Issue 5, Page(s) e0284999

    Abstract: Phenomenon: The morning report is one of the longest surviving hospital practices. Most studies of the morning report focus on the effectiveness of formal medical training, while focus on social and communicative aspects is rarer. This study explores ... ...

    Abstract Phenomenon: The morning report is one of the longest surviving hospital practices. Most studies of the morning report focus on the effectiveness of formal medical training, while focus on social and communicative aspects is rarer. This study explores the social interactions and communication in morning reports, examining the ways in which they contribute to the construction of professional identity and socialization into the community of the clinical department.
    Approach: We used a qualitative explorative design with video observations of morning reports. Our data consisted of 43 video-recorded observations (in all, 15.5 hours) from four different hospital departments in Denmark. These were analyzed using the theoretical framework of positioning theory.
    Findings: A key finding was that each department followed its own individual structure. This order was not articulated as such but played out implictly. Two alternative storylines unfolded in the elements of the morning report: 1) being equal members of the specialty and department, and 2) preserving the hierarchical community and its inherent positions.
    Insights: The morning report can be seen as playing an important role in community making. It unfolds as a "dance" of repeated elements in a complex collegial space. Within this complexity, the morning report is a space for positioning oneself and others as a collegial "we", i.e., equal members of a department and specialty, at the same time as "having a place" in a hierarchal community. Thus, morning reports contribute to developing professional identity and socialization into the medical community.
    MeSH term(s) Teaching Rounds ; Social Behavior ; Social Interaction ; Communication ; Hospitals
    Language English
    Publishing date 2023-05-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0284999
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  4. Article ; Online: Diagnosis of hydatidiform moles using circulating gestational trophoblasts isolated from maternal blood.

    Ravn, Katarina / Hatt, Lotte / Singh, Ripudaman / Schelde, Palle / Hansen, Estrid Stæhr / Vogel, Ida / Uldbjerg, Niels / Niemann, Isa / Sunde, Lone

    Placenta

    2023  Volume 135, Page(s) 7–15

    Abstract: Introduction: Identifying hydatidiform moles (HMs) is crucial due to the risk of gestational trophoblastic neoplasia. When a HM is suspected on clinical findings, surgical termination is recommended. However, in a substantial fraction of the cases, the ... ...

    Abstract Introduction: Identifying hydatidiform moles (HMs) is crucial due to the risk of gestational trophoblastic neoplasia. When a HM is suspected on clinical findings, surgical termination is recommended. However, in a substantial fraction of the cases, the conceptus is actually a non-molar miscarriage. If distinction between molar and non-molar gestations could be obtained before termination, surgical intervention could be minimized.
    Methods: Circulating gestational trophoblasts (cGTs) were isolated from blood from 15 consecutive women suspected of molar pregnancies in gestational week 6-13. The trophoblasts were individually sorted using fluorescence activated cell sorting. STR analysis targeting 24 loci was performed on DNA isolated from maternal and paternal leukocytes, chorionic villi, cGTs, and cfDNA.
    Results: With a gestational age above 10 weeks, cGTs were isolated in 87% of the cases. Two androgenetic HMs, three triploid diandric HMs, and six conceptuses with diploid biparental genome were diagnosed using cGTs. The STR profiles in cGTs were identical to the profiles in DNA from chorionic villi. Eight of the 15 women suspected to have a HM prior to termination had a conceptus with a diploid biparental genome, and thus most likely a non-molar miscarriage.
    Discussion: Genetic analysis of cGTs is superior to identify HMs, compared to analysis of cfDNA, as it is not hampered by the presence of maternal DNA. cGTs provide information about the full genome in single cells, facilitating estimation of ploidy. This may be a step towards differentiating HMs from non-HMs before termination.
    MeSH term(s) Pregnancy ; Female ; Humans ; Infant ; Uterine Neoplasms/diagnosis ; Uterine Neoplasms/genetics ; Trophoblasts ; Abortion, Spontaneous ; Hydatidiform Mole/diagnosis ; Hydatidiform Mole/genetics ; Gestational Trophoblastic Disease
    Language English
    Publishing date 2023-02-28
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603951-0
    ISSN 1532-3102 ; 0143-4004
    ISSN (online) 1532-3102
    ISSN 0143-4004
    DOI 10.1016/j.placenta.2023.02.012
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1578: Show issues Location:
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  5. Article ; Online: The pivotal roles of the NOD-like receptors with a PYD domain, NLRPs, in oocytes and early embryo development†.

    Amoushahi, Mahboobeh / Sunde, Lone / Lykke-Hartmann, Karin

    Biology of reproduction

    2019  Volume 101, Issue 2, Page(s) 284–296

    Abstract: Nucleotide-binding oligomerization domain (NOD)-like receptors with a pyrin domain (PYD), NLRPs, are pattern recognition receptors, well recognized for their important roles in innate immunity and apoptosis. However, several NLRPs have received attention ...

    Abstract Nucleotide-binding oligomerization domain (NOD)-like receptors with a pyrin domain (PYD), NLRPs, are pattern recognition receptors, well recognized for their important roles in innate immunity and apoptosis. However, several NLRPs have received attention for their new, specialized roles as maternally contributed genes important in reproduction and embryo development. Several NLRPs have been shown to be specifically expressed in oocytes and preimplantation embryos. Interestingly, and in line with divergent functions, NLRP genes reveal a complex evolutionary divergence. The most pronounced difference is the human-specific NLRP7 gene, not identified in rodents. However, mouse models have been extensively used to study maternally contributed NLRPs. The NLRP2 and NLRP5 proteins are components of the subcortical maternal complex (SCMC), which was recently identified as essential for mouse preimplantation development. The SCMC integrates multiple proteins, including KHDC3L, NLRP5, TLE6, OOEP, NLRP2, and PADI6. The NLRP5 (also known as MATER) has been extensively studied. In humans, inactivating variants in specific NLRP genes in the mother are associated with distinct phenotypes in the offspring, such as biparental hydatidiform moles (BiHMs) and preterm birth. Maternal-effect recessive mutations in KHDC3L and NLRP5 (and NLRP7) are associated with reduced reproductive outcomes, BiHM, and broad multilocus imprinting perturbations. The precise mechanisms of NLRPs are unknown, but research strongly indicates their pivotal roles in the establishment of genomic imprints and post-zygotic methylation maintenance, among other processes. Challenges for the future include translations of findings from the mouse model into human contexts and implementation in therapies and clinical fertility management.
    MeSH term(s) Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Animals ; Apoptosis Regulatory Proteins/genetics ; Apoptosis Regulatory Proteins/metabolism ; Embryonic Development/physiology ; Gene Expression Regulation, Developmental/physiology ; Humans ; Protein Domains
    Chemical Substances Adaptor Proteins, Signal Transducing ; Apoptosis Regulatory Proteins
    Language English
    Publishing date 2019-06-11
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1118-6
    ISSN 1529-7268 ; 0006-3363
    ISSN (online) 1529-7268
    ISSN 0006-3363
    DOI 10.1093/biolre/ioz098
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    Zs.A 551: Show issues Location:
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  6. Article ; Online: Clinical genetic diagnostics in Danish autosomal dominant polycystic kidney disease patients reveal possible founder variants.

    Nielsen, Marlene L / Lildballe, Dorte L / Rasmussen, Maria / Bojesen, Anders / Birn, Henrik / Sunde, Lone

    European journal of medical genetics

    2021  Volume 64, Issue 4, Page(s) 104183

    Abstract: Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable kidney disease. ADPKD leads to cysts, kidney enlargement and end-stage renal disease. ADPKD is mainly caused by variants in PKD1 and PKD2, with truncating PKD1 ...

    Abstract Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable kidney disease. ADPKD leads to cysts, kidney enlargement and end-stage renal disease. ADPKD is mainly caused by variants in PKD1 and PKD2, with truncating PKD1 variants causing the most severe phenotype. This study aimed to characterize variants in Danish patients referred for screening of genes related to cystic kidney disease.
    Methods: 147 families were analysed for variants in PKD1, PKD2 and GANAB using next generation sequencing and multiplex ligation-dependent probe amplification. If a variant was identified, relatives were analysed for the specific variant using Sanger sequencing.
    Results: A pathogenic or possibly pathogenic variant was identified in 87% (103/118) of patients suspected to suffer from ADPKD, according to the requisition form. In total, 112 pathogenic or possibly pathogenic variants were observed, of which 94 were unique; 74 (79%) in PKD1 and 20 (21%) in PKD2, while 41 variants were novel. No variants in GANAB were observed. Ten recurrent variants were observed in 26 (26%) families. These were either PKD2 variants (N = 6) or non-truncating PKD1 variants (N = 4). Five of these were likely founder variants.
    Conclusions: The distribution of pathogenic or possibly pathogenic variants in the Danish ADPKD population is similar to that in other populations, except that recurrent truncating PKD1 variants appear to be rare, i.e. founder variants tend to be variant types associated with a mild phenotype. Patients with a mild phenotype may remain undiagnosed, consequently the frequency of founder variants and prevalence of ADPKD may be underestimated.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Testing/statistics & numerical data ; Glucosidases/genetics ; Humans ; Infant ; Male ; Middle Aged ; Polycystic Kidney, Autosomal Dominant/genetics ; Polycystic Kidney, Autosomal Dominant/pathology ; Pyruvate Dehydrogenase Acetyl-Transferring Kinase/genetics
    Chemical Substances PDK1 protein, human ; PDK2 protein, human ; Pyruvate Dehydrogenase Acetyl-Transferring Kinase ; GANAB protein, human (EC 3.2.1.-) ; Glucosidases (EC 3.2.1.-)
    Language English
    Publishing date 2021-02-24
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104183
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    Zs.A 84/9: Show issues Location:
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  7. Article ; Online: Choroid plexus hyperplasia and chromosome 9p gains.

    Boxill, Martin / Becher, Naja / Sunde, Lone / Thelle, Thomas

    American journal of medical genetics. Part A

    2018  Volume 176, Issue 6, Page(s) 1416–1422

    Abstract: Choroid plexus hyperplasia leading to communicating hydrocephalus is a rare disorder with only 24 patients reported so far in the literature. Furthermore, genetic information is only available for six of these cases: In one patient the condition was ... ...

    Abstract Choroid plexus hyperplasia leading to communicating hydrocephalus is a rare disorder with only 24 patients reported so far in the literature. Furthermore, genetic information is only available for six of these cases: In one patient the condition was associated with trisomy 9p, in one patient with trisomy 9 mosaicism and in three patients with tetrasomy 9p. Here, we describe four additional patients with choroid plexus hyperplasia leading to various levels of hydrocephalus, and gain of the entire chromosome 9p region: Three with trisomy 9p and one with tetrasomy 9p. The three patients with trisomy 9p were siblings. Normal karyotypes were identified in the lymphocytes of the parents. Likely one of the parents is a mosaic for a cell line with trisomy 9p in the gonads. We demonstrate the importance of correctly diagnosing choroid plexus hyperplasia as the cause of hydrocephalus in patients with chromosome 9p gain since ventriculoperitoneal shunting is likely to fail due to intolerable formation of ascites.
    MeSH term(s) Aneuploidy ; Cerebrospinal Fluid Shunts ; Child, Preschool ; Choroid Plexus/diagnostic imaging ; Choroid Plexus/pathology ; Chromosomes, Human, Pair 9 ; Diseases in Twins ; Face/abnormalities ; Female ; Humans ; Hydrocephalus/etiology ; Hydrocephalus/surgery ; Hyperplasia/etiology ; Hyperplasia/genetics ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Mosaicism ; Trisomy
    Language English
    Publishing date 2018-04-16
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.38697
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  8. Article ; Online: p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types.

    Lund, Helle / Nielsen, Søren / Grove, Anni / Vyberg, Mogens / Sunde, Lone

    Applied immunohistochemistry & molecular morphology : AIMM

    2019  Volume 28, Issue 9, Page(s) 694–701

    Abstract: The protein p57 is encoded by CDKN1C. This gene is known to be paternally imprinted and maternally expressed in cytotrophoblasts and villous stromal cells. We present a method for evaluating p57 antibodies (Abs) in hydatidiform mole (HM) and demonstrate ... ...

    Abstract The protein p57 is encoded by CDKN1C. This gene is known to be paternally imprinted and maternally expressed in cytotrophoblasts and villous stromal cells. We present a method for evaluating p57 antibodies (Abs) in hydatidiform mole (HM) and demonstrate the results for 4 p57 Abs in various cell types. Five cases of complete HM, diploid with 2 paternal genome sets (CHM;PP), 5 cases of partial HM, triploid with 2 paternal and 1 maternal genome sets (PHM;PPM), and 5 cases of non-HM, with diploid biparental genomes (non-HM;PM) were stained with p57 Abs: 57P06, EP183, KP10, and KP39. Assessment of the fraction of nuclei stained, and the intensity of staining of the nuclei and cytoplasm was performed. For evaluation of the Abs, the observations in cytotrophoblasts, villous stromal cells, maternal decidual cells, and intermediate trophoblasts were scored. The fraction of stained nuclei in cytotrophoblasts and villous stromal cells and the staining of cytoplasm showed to be important parameters in the evaluation of the Abs. 57P06 was evaluated as optimal. KP10 showed moderate cytoplasmatic staining in maternal decidual cells and intermediate trophoblasts, and was evaluated as good. EP183 was evaluated as poor, primarily due to nuclear staining in ≥10% of the villous stromal cells in CHM;PP. KP39 was evaluated as poor, primarily due to strong cytoplasmatic staining in some cytotrophoblasts and villous stromal cells. A structured testing of p57 for diagnosing HM is recommended. No nuclear staining was observed in syncytiotrophoblasts of CHM;PP, indicating that in syncytiotrophoblasts also, CDKN1C is paternally imprinted.
    MeSH term(s) Antibodies/blood ; Biomarkers, Tumor/metabolism ; Chorionic Villi/metabolism ; Cyclin-Dependent Kinase Inhibitor p57/immunology ; Cyclin-Dependent Kinase Inhibitor p57/metabolism ; Female ; Humans ; Hydatidiform Mole/diagnosis ; Hydatidiform Mole/metabolism ; Immunohistochemistry ; Pregnancy ; Stromal Cells/metabolism ; Trophoblasts/metabolism ; Uterine Neoplasms/diagnosis ; Uterine Neoplasms/metabolism
    Chemical Substances Antibodies ; Biomarkers, Tumor ; CDKN1C protein, human ; Cyclin-Dependent Kinase Inhibitor p57
    Language English
    Publishing date 2019-09-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1473273-7
    ISSN 1533-4058 ; 1062-3345 ; 1541-2016
    ISSN (online) 1533-4058
    ISSN 1062-3345 ; 1541-2016
    DOI 10.1097/PAI.0000000000000807
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    Zs.A 3783: Show issues Location:
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  9. Article ; Online: Decreasing incidence of registered hydatidiform moles in Denmark 1999-2014.

    Lund, Helle / Vyberg, Mogens / Eriksen, Helle Højmark / Grove, Anni / Jensen, Annette Østergaard / Sunde, Lone

    Scientific reports

    2020  Volume 10, Issue 1, Page(s) 17041

    Abstract: Incidences of hydatidiform mole (HM) registered in European countries varies from 0.98/1000 to 2.17/1000 deliveries, while higher incidences have been reported in other parts of the world. We calculated the incidence by selecting data on HMs classified ... ...

    Abstract Incidences of hydatidiform mole (HM) registered in European countries varies from 0.98/1000 to 2.17/1000 deliveries, while higher incidences have been reported in other parts of the world. We calculated the incidence by selecting data on HMs classified as "first", "second" and "third" from 01.01.1999 to 31.12.2014 registered in the Danish Pathology Registry, which we previously showed to be the most complete data source on the number of HMs in Denmark. In the study period, 1976 first HMs were registered; 1080 (55%) were classified as PHMs (partial HMs) and 896 (45%) as NPHMs (HMs not registered as PHMs). The average incidence of HM was 1.98/1000 deliveries. The incidence of PHM was 1.08/1000 deliveries and the incidence of NPHM was 0.90/1000 deliveries. Forty HMs were registered as second HMs; 85% (34/40) were of the same histopathological type as the first HM. The registered incidence of HM decreased from 2.55/1000 deliveries in 1999 to 1.61/1000 deliveries in 2014 (p < 0.005). The decrease in the incidence of HM was identical with a decrease in the incidence of PHM. New medical practices such as medical abortion and only forwarding selected pregnancy products for histopathologic examination may cause a declining number of HMs registered.
    MeSH term(s) Adolescent ; Adult ; Denmark/epidemiology ; Female ; Humans ; Hydatidiform Mole/epidemiology ; Hydatidiform Mole/pathology ; Incidence ; Middle Aged ; Pregnancy ; Registries ; Uterine Neoplasms/epidemiology ; Uterine Neoplasms/pathology ; Young Adult
    Language English
    Publishing date 2020-10-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-020-73921-4
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  10. Article ; Online: Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.

    Jelsig, Anne Marie / van Overeem Hansen, Thomas / Gede, Lene Bjerring / Qvist, Niels / Christensen, Lise-Lotte / Lautrup, Charlotte Kvist / Frederiksen, Jane Hübertz / Sunde, Lone / Ousager, Lilian Bomme / Ljungmann, Ken / Bertelsen, Birgitte / Karstensen, John Gásdal

    Clinical genetics

    2023  Volume 104, Issue 1, Page(s) 81–89

    Abstract: Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, ... ...

    Abstract Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.
    MeSH term(s) Humans ; Adult ; Aged ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Middle Aged ; Aged, 80 and over ; Peutz-Jeghers Syndrome/complications ; Peutz-Jeghers Syndrome/genetics ; Peutz-Jeghers Syndrome/diagnosis ; Protein Serine-Threonine Kinases/genetics ; Genotype ; Mosaicism ; Colorectal Neoplasms
    Chemical Substances Protein Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2023-04-05
    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.14337
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