LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 41

Search options

  1. Article ; Online: The PCQ-Infertility Revised

    van der Kolk L / Smit E / Bloemer J / van Wijk LM

    Patient Related Outcome Measures, Vol Volume 14, Pp 223-

    A New Digital Instrument to Measure Treatment Satisfaction of Fertility Patients

    2023  Volume 234

    Abstract: Lotte van der Kolk,1 Ellen Smit,2 Josée Bloemer,1 Lise Marit van Wijk2 1Institute for Management Research, Radboud University, Nijmegen, the Netherlands; 2Ferring B.V., Hoofddorp, the NetherlandsCorrespondence: Ellen Smit, Polarisavenue 130, Hoofddorp, ... ...

    Abstract Lotte van der Kolk,1 Ellen Smit,2 Josée Bloemer,1 Lise Marit van Wijk2 1Institute for Management Research, Radboud University, Nijmegen, the Netherlands; 2Ferring B.V., Hoofddorp, the NetherlandsCorrespondence: Ellen Smit, Polarisavenue 130, Hoofddorp, 2132 JX, the Netherlands, Tel +31 6 208 72 493, Email ellen.smit@ferring.comBackground: One of the key dimensions of healthcare quality is patient-centeredness, which represents how well healthcare is geared towards patients’ needs and wishes. Many questionnaires that measure the patient-centeredness are long and complicated, eliciting non-response or careless responding. Moreover, responses to some commonly used questionnaires are difficult to interpret. The Patient-Centeredness Questionnaire-Infertility (PCQ-Infertility) is used to measure the patient’s experience of fertility healthcare quality. The aim of this study was to improve the PCQ-Infertility to allow large-scale clinical implementation.Methods: The study was performed in three parts. First, shortcomings of the original PCQ-Infertility were identified by evaluation of expert opinions. Second, the number of items were reduced, and items were rescaled and rephrased. Third, 844 patients filled in the original PCQ-Infertility and 260 patients filled in the revised PCQ-Infertility and reliability analyses were performed. In addition, a confirmatory factor analysis was performed on the revised PCQ-Infertility.Results: The number of items in the revised questionnaire was reduced by 24% (from 51 to 39 items), which increased the internal consistency and reliability. The reliability analyses and confirmatory factor analysis indicated high consistency and convergent validity in all seven dimensions (accessibility, information, communication, patient involvement, respect for patient’s values, continuity and transition, and competence) of the revised PCQ-Infertility.Conclusion: The revised PCQ-Infertility is a more valid and reliable instrument than the original PCQ-Infertility, easier to interpret and shorter. ...
    Keywords pcq-infertility ; prem ; fertility ; questionnaire ; patient-centeredness ; patient satisfaction ; Medicine (General) ; R5-920
    Subject code 616
    Language English
    Publishing date 2023-07-01T00:00:00Z
    Publisher Dove Medical Press
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  2. Article: The PCQ-Infertility Revised: A New Digital Instrument to Measure Treatment Satisfaction of Fertility Patients.

    van der Kolk, Lotte / Smit, Ellen / Bloemer, Josée / van Wijk, Lise Marit

    Patient related outcome measures

    2023  Volume 14, Page(s) 223–234

    Abstract: Background: One of the key dimensions of healthcare quality is patient-centeredness, which represents how well healthcare is geared towards patients' needs and wishes. Many questionnaires that measure the patient-centeredness are long and complicated, ... ...

    Abstract Background: One of the key dimensions of healthcare quality is patient-centeredness, which represents how well healthcare is geared towards patients' needs and wishes. Many questionnaires that measure the patient-centeredness are long and complicated, eliciting non-response or careless responding. Moreover, responses to some commonly used questionnaires are difficult to interpret. The Patient-Centeredness Questionnaire-Infertility (PCQ-Infertility) is used to measure the patient's experience of fertility healthcare quality. The aim of this study was to improve the PCQ-Infertility to allow large-scale clinical implementation.
    Methods: The study was performed in three parts. First, shortcomings of the original PCQ-Infertility were identified by evaluation of expert opinions. Second, the number of items were reduced, and items were rescaled and rephrased. Third, 844 patients filled in the original PCQ-Infertility and 260 patients filled in the revised PCQ-Infertility and reliability analyses were performed. In addition, a confirmatory factor analysis was performed on the revised PCQ-Infertility.
    Results: The number of items in the revised questionnaire was reduced by 24% (from 51 to 39 items), which increased the internal consistency and reliability. The reliability analyses and confirmatory factor analysis indicated high consistency and convergent validity in all seven dimensions (accessibility, information, communication, patient involvement, respect for patient's values, continuity and transition, and competence) of the revised PCQ-Infertility.
    Conclusion: The revised PCQ-Infertility is a more valid and reliable instrument than the original PCQ-Infertility, easier to interpret and shorter. Therefore, large-scale clinical implementation and data analysis are now possible, giving the opportunity for fertility care professionals to evaluate and improve their healthcare.
    Language English
    Publishing date 2023-07-18
    Publishing country New Zealand
    Document type Journal Article
    ZDB-ID 2586660-6
    ISSN 1179-271X
    ISSN 1179-271X
    DOI 10.2147/PROM.S416182
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    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: Effects of a pre-visit online information tool about genetic counselling for ovarian cancer patients, a randomized controlled trial.

    Frijstein, M M / Hamers, S L / van Driel, W J / Bleiker, E M A / van der Kolk, L / Sijstermans, R / Lok, C A R

    Patient education and counseling

    2023  Volume 113, Page(s) 107786

    Abstract: Objective: In the Netherlands, patients with ovarian cancer are offered genetic testing. Pre-test preparation may help counseling patients. The aim of this study was to determine if use of a web-based intervention, leads to more effective genetic ... ...

    Abstract Objective: In the Netherlands, patients with ovarian cancer are offered genetic testing. Pre-test preparation may help counseling patients. The aim of this study was to determine if use of a web-based intervention, leads to more effective genetic counseling of ovarian cancer patients.
    Methods: Between 2016 and 2018, 127 ovarian cancer patients referred for genetic counseling in our hospital participated in this trial. 104 Patients were analyzed. All patients filled out questionnaires pre- and post-counseling. The intervention group also completed a questionnaire after visiting an online tool. Length of consultation, patients' satisfaction, knowledge, anxiety, depression and distress were compared before and after counselling.
    Results: The intervention group had the same level of knowledge compared to the counseling group, but at an earlier point in time. They were satisfied with the intervention (86%) and better prepared for counseling (66%). The intervention did not lead to shorter consultations. No differences in levels of anxiety, depression, distress and satisfaction were observed.
    Conclusion: Although consultation length was unaffected, the improvements in knowledge after online education and patients satisfaction indicates that this tool can be an effective addition to genetic counseling.
    Practice implications: Use of an educational tool may lead to a more effective, personalized way of genetic counselling and enables shared decision making.
    MeSH term(s) Genetic Counseling/psychology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/psychology ; Humans ; Female ; Netherlands ; Patient Satisfaction ; Internet-Based Intervention ; Health Knowledge, Attitudes, Practice ; Anxiety ; Adult ; Middle Aged
    Language English
    Publishing date 2023-05-02
    Publishing country Ireland
    Document type Randomized Controlled Trial ; Journal Article
    ZDB-ID 605590-4
    ISSN 1873-5134 ; 0738-3991
    ISSN (online) 1873-5134
    ISSN 0738-3991
    DOI 10.1016/j.pec.2023.107786
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1465: 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.

  4. Article: A light in the darkness. NCF in Estonia.

    Kolk, L

    Journal of Christian nursing : a quarterly publication of Nurses Christian Fellowship

    1997  Volume 14, Issue 2, Page(s) 19

    MeSH term(s) Christianity/history ; Estonia ; History, 20th Century ; Societies, Nursing/history
    Language English
    Publishing date 1997
    Publishing country United States
    Document type Historical Article ; Journal Article
    ZDB-ID 1057048-2
    ISSN 0743-2550
    ISSN 0743-2550
    DOI 10.1097/00005217-199714020-00006
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3100: 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.

  5. Article ; Online: Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.

    Koster, Roelof / Schipper, Luuk J / Giesbertz, Noor A A / van Beek, Daphne / Mendeville, Matías / Samsom, Kris G / Rosenberg, Efraim H / Hogervorst, Frans B L / Roepman, Paul / Boelens, Mirjam C / Bosch, Linda J W / van den Berg, Jose G / Meijer, Gerrit A / Voest, Emile E / Cuppen, Edwin / Ruijs, Marielle W G / van Wezel, Tom / van der Kolk, Lizet / Monkhorst, Kim

    Genetics in medicine : official journal of the American College of Medical Genetics

    2023  Volume 26, Issue 2, Page(s) 101032

    Abstract: Purpose: Genome sequencing (GS) enables comprehensive molecular analysis of tumors and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pretest genetic ... ...

    Abstract Purpose: Genome sequencing (GS) enables comprehensive molecular analysis of tumors and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pretest genetic counseling, which is cost-ineffective. Referral for genetic counseling based on tumor variants alone could miss relevant PGVs and/or result in unnecessary referrals.
    Methods: We validated GS for detection of germline variants and simulated 3 strategies using paired tumor-normal GS data of 937 metastatic patients. In strategy-1, genetic counseling before tumor testing allowed direct PGV analysis. In strategy-2 and -3, germline testing and referral for post-test genetic counseling is based on tumor variants using Dutch (strategy-2) or Europen Society for Medical Oncology (ESMO) Precision Medicine Working Group (strategy-3) guidelines.
    Results: In strategy-1, PGVs would be detected in 50 patients (number-needed-to counsel; NTC = 18.7). In strategy-2, 86 patients would have been referred for genetic counseling and 43 would have PGVs (NTC = 2). In strategy-3, 94 patients would have been referred for genetic counseling and 32 would have PGVs (NTC = 2.9). Hence, 43 and 62 patients, respectively, were unnecessarily referred based on a somatic variant.
    Conclusion: Both post-tumor test counseling strategies (2 and 3) had significantly lower NTC, and strategy-2 had the highest PGV yield. Combining pre-tumor test mainstreaming and post-tumor test counseling may maximize the clinically relevant PGV yield and minimize unnecessary referrals.
    MeSH term(s) Humans ; Genetic Counseling ; Genetic Testing ; Workload ; Neoplasms/diagnosis ; Neoplasms/genetics ; Genetic Predisposition to Disease ; Germ-Line Mutation/genetics
    Language English
    Publishing date 2023-11-22
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2023.101032
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 5059: 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.

  6. Article ; Online: Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

    Tudini, Emma / Moghadasi, Setareh / Parsons, Michael T / van der Kolk, Lizet / van den Ouweland, Ans M W / Niederacher, Dieter / Feliubadaló, Lídia / Wappenschmidt, Barbara / Spurdle, Amanda B / Lazaro, Conxi

    Breast cancer research and treatment

    2018  Volume 172, Issue 2, Page(s) 497–503

    Abstract: Purpose: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to ...

    Abstract Purpose: Classification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to abrogate BRCA1 protein homologous DNA repair; however, multiple sequence alignment demonstrates a lack of sequence conservation at this position, suggesting that glycine at position 1770 may not be essential for cellular maintenance in humans. We analyzed clinical information to resolve the classification of BRCA1 c.5309G>T p.(Gly1770Val).
    Methods: We performed multifactorial likelihood analysis combining segregation data for 14 informative families, and breast tumor histopathological data for 17 variant carriers, ascertained through the ENIGMA consortium.
    Results: Bayes segregation analysis gave a likelihood ratio of 101:1 in favor of pathogenicity. The vast majority of breast tumors showed features indicative of pathogenic variant carrier status, resulting in a likelihood ratio of 15800794:1 towards pathogenicity. Despite a low prior probability of pathogenicity (0.03) based on bioinformatic prediction, multifactorial likelihood analysis including segregation and histopathology analysis gave a posterior probability of > 0.99 and final classification of Pathogenic.
    Conclusions: We provide evidence that BRCA1 c.5309G>T p.(Gly1770Val), previously described as a Moroccan founder variant, should be treated as a disease-causing variant despite a lack of evolutionary conservation at this amino acid position. Additionally, we stress that bioinformatic information should be used in combination with other data, either direct clinical evidence or some form of clinical calibration, to arrive at a final clinical classification.
    MeSH term(s) Animals ; BRCA1 Protein/genetics ; Bayes Theorem ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Conserved Sequence ; DNA Repair/genetics ; Evolution, Molecular ; Female ; Genetic Predisposition to Disease ; Humans ; Mice ; Mutation, Missense/genetics ; Sequence Alignment
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human
    Language English
    Publishing date 2018-08-13
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 604563-7
    ISSN 1573-7217 ; 0167-6806
    ISSN (online) 1573-7217
    ISSN 0167-6806
    DOI 10.1007/s10549-018-4903-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 1655: 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.

  7. Article ; Online: Outcomes after prophylactic gastrectomy for hereditary diffuse gastric cancer.

    van der Kaaij, R T / van Kessel, J P / van Dieren, J M / Snaebjornsson, P / Balagué, O / van Coevorden, F / van der Kolk, L E / Sikorska, K / Cats, A / van Sandick, J W

    The British journal of surgery

    2018  Volume 105, Issue 2, Page(s) e176–e182

    Abstract: Background: Patients with hereditary diffuse gastric cancer and a CDH1 mutation have a 60-80 per cent lifetime risk of developing diffuse gastric cancer. Total prophylactic gastrectomy eliminates this risk, but is associated with considerable morbidity. ...

    Abstract Background: Patients with hereditary diffuse gastric cancer and a CDH1 mutation have a 60-80 per cent lifetime risk of developing diffuse gastric cancer. Total prophylactic gastrectomy eliminates this risk, but is associated with considerable morbidity. The effectiveness (removal of all gastric mucosa) and outcomes of this procedure were evaluated retrospectively.
    Methods: All consecutive individuals undergoing a prophylactic gastrectomy for a CDH1 mutation or gastric signet ring cell foci at the authors' institute between 2005 and 2017 were included.
    Results: In 25 of 26 patients, intraoperative frozen-section examination (proximal resection margin) was used to verify complete removal of gastric mucosa. All definitive resection margins were free of gastric mucosa, but only after the proximal margin had been reresected in nine patients. In the first year after surgery, five of the 26 patients underwent a relaparotomy for adhesiolysis (2 patients) or jejunostomy-related complications (3 patients). Six patients were readmitted to the hospital within 1 year for nutritional and/or psychosocial support (4 patients) or surgical reintervention (2 patients). Mean weight loss after 1 year was 15 (95 per cent c.i. 12 to 18) per cent. For the 25 patients with a follow-up at 1 year or more, functional complaints were reported more frequently at 1 year than at 3 months after the operation: bile reflux (15 versus 11 patients respectively) and dumping (11 versus 7 patients). The majority of patients who worked or studied before surgery (15 of 19) had returned fully to these activities within 1 year.
    Conclusion: The considerable morbidity and functional consequences of gastrectomy should be considered when counselling individuals with an inherited predisposition to diffuse gastric cancer. Intraoperative frozen-section examination is recommended to remove all risk-bearing gastric mucosa.
    MeSH term(s) Adult ; Antigens, CD/genetics ; Cadherins/genetics ; Female ; Follow-Up Studies ; Gastrectomy/adverse effects ; Gastrectomy/methods ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Neoplastic Syndromes, Hereditary/prevention & control ; Neoplastic Syndromes, Hereditary/surgery ; Prophylactic Surgical Procedures/adverse effects ; Prophylactic Surgical Procedures/methods ; Retrospective Studies ; Stomach/pathology ; Stomach/surgery ; Stomach Neoplasms/prevention & control ; Stomach Neoplasms/surgery ; Treatment Outcome
    Chemical Substances Antigens, CD ; CDH1 protein, human ; Cadherins
    Language English
    Publishing date 2018-01-31
    Publishing country England
    Document type Journal Article
    ZDB-ID 2985-3
    ISSN 1365-2168 ; 0263-1202 ; 0007-1323 ; 1355-7688
    ISSN (online) 1365-2168
    ISSN 0263-1202 ; 0007-1323 ; 1355-7688
    DOI 10.1002/bjs.10754
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Uk I Zs.66: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    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.

  8. Article ; Online: Prevalence and detection of psychosocial problems in cancer genetic counseling.

    Eijzenga, W / Bleiker, E M A / Hahn, D E E / Van der Kolk, L E / Sidharta, G N / Aaronson, N K

    Familial cancer

    2015  Volume 14, Issue 4, Page(s) 629–636

    Abstract: Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the ... ...

    Abstract Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to identify possible demographic and clinical variables associated significantly with them. Consenting individuals scheduled to undergo cancer genetic counseling completed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, the Hospital Anxiety and Depression Scale (HADS) and the Distress Thermometer (DT) prior to or immediately following their counseling session. More than half of the 137 participants reported problems on three or more domains of the PAHC, most often in the domains 'living with cancer' (84%), 'family issues' (46%), 'hereditary predisposition' (45%), and 'child-related issues' (42%). Correlations between the PAHC, the HADS and the DT were low. Previous contact with a psychosocial worker, and having a personal history of cancer were associated significantly with HADS scores, but explained little variance (9%). No background variables were associated significantly with the DT. Previous contact with a psychosocial worker, and having children were significantly associated with several PAHC domains, again explaining only a small percentage of the variance (2-14%). The majority of counselees experience specific cancer genetic counseling-related psychosocial problems. Only a few background variables are associated significantly with distress or psychosocial problems. Thus we recommend using the PAHC or a similar problem-oriented questionnaire routinely in cancer genetic counseling to identify individuals with such problems.
    MeSH term(s) Adolescent ; Adult ; Aged ; Anxiety/diagnosis ; Anxiety/epidemiology ; Anxiety/psychology ; Depression/diagnosis ; Depression/epidemiology ; Depression/psychology ; Female ; Follow-Up Studies ; Genetic Counseling/psychology ; Genetic Predisposition to Disease/psychology ; Humans ; Male ; Middle Aged ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/psychology ; Netherlands/epidemiology ; Prevalence ; Stress, Psychological/diagnosis ; Stress, Psychological/epidemiology ; Stress, Psychological/psychology ; Surveys and Questionnaires ; Young Adult
    Language English
    Publishing date 2015-12
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-015-9809-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6099: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    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.

  9. Article: Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing.

    Van de Beek, I / Smets, E M A / Legdeur, M A / de Hullu, J A / Lok, C A R / Buist, M R / Mourits, M J E / Kets, C M / van der Kolk, L E / Oosterwijk, J C / Aalfs, C M

    Journal of community genetics

    2019  Volume 11, Issue 2, Page(s) 183–191

    Abstract: The new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this study, we aimed to obtain insight into (1) the acceptance and timing of the offer of genetic ... ...

    Abstract The new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this study, we aimed to obtain insight into (1) the acceptance and timing of the offer of genetic counseling in women with EOC, (2) reasons for accepting or declining genetic counseling, and (3) psychological differences between women who did and did not have genetic counseling. A multicenter questionnaire survey was performed in patients with EOC in four Dutch oncology centers. The questionnaire addressed whether, how, and when genetic counseling was offered, women's arguments to accept or decline genetic counseling, and included the Cancer Worry Scale (CWS) and the Hospital Anxiety and Depression Scale (HADS). A total of 67 women completed the questionnaire, of which 43 had genetic counseling. Despite a wide variability in the timing of the offer of genetic counseling, 89% of the women were satisfied with the timing. No significant differences were found between the CWS and HADS scores for the timing of the offer of genetic counseling and whether or not women had genetic counseling. Taking the small sample size into account, the results tentatively suggest that genetic counseling may have limited impact on the psychosocial wellbeing of women with EOC. Therefore, we assume that implementation of the new guidelines offering genetic counseling to all patients with EOC will not cause considerable additional burden to these patients.
    Language English
    Publishing date 2019-06-05
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 2543127-4
    ISSN 1868-6001 ; 1868-310X
    ISSN (online) 1868-6001
    ISSN 1868-310X
    DOI 10.1007/s12687-019-00427-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    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.

  10. Article ; Online: Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview.

    Farag, S / van der Kolk, L E / van Boven, H H / van Akkooi, A C J / Beets, G L / Wilmink, J W / Steeghs, N

    Familial cancer

    2017  Volume 17, Issue 2, Page(s) 247–253

    Abstract: Gastrointestinal stromal tumors (GISTs) occur mostly sporadically. GISTs associated with a familial syndrome are very rare and are mostly wild type for KIT and platelet-derived growth factor alpha (PDGFRA). To date 35 kindreds and 8 individuals have been ...

    Abstract Gastrointestinal stromal tumors (GISTs) occur mostly sporadically. GISTs associated with a familial syndrome are very rare and are mostly wild type for KIT and platelet-derived growth factor alpha (PDGFRA). To date 35 kindreds and 8 individuals have been described with GISTs associated with germline KIT mutations. This is the third family described with a germline p.Trp557Arg mutation in exon 11 of the KIT gene. The effect of imatinib in patients harboring a germline KIT mutation has been rarely described. Moreover, in some studies imatinib treatment was withheld considering the lack of evidence for efficacy of this treatment in GIST patients harboring a germline KIT mutation. This paper describes a 52-year old patient with a de novo germline p.Trp557Arg mutation with multiple GISTs throughout the gastrointestinal tract and cutaneous hyperpigmentation. Imatinib treatment showed long-term regression of the GISTs and evident pathological response was seen after resection. Remarkably, the hyperpigmentation of the skin also diminished during imatinib treatment. Genetic screening of the family revealed the same mutation in two daughters, both with similar cutaneous hyperpigmentation. One daughter, aged 23, was diagnosed with multiple small intestine GISTs, which were resected. She was treated with adjuvant imatinib which prompted rapid regression of the cutaneous hyperpigmentation. Imatinib treatment in GIST patients harboring a germline KIT mutation shows favorable and long-term responses in both the tumor and the phenotypical hyperpigmentation.
    MeSH term(s) Adult ; Age of Onset ; Antineoplastic Agents/pharmacology ; Antineoplastic Agents/therapeutic use ; Exons/genetics ; Female ; Gastrointestinal Stromal Tumors/diagnosis ; Gastrointestinal Stromal Tumors/drug therapy ; Gastrointestinal Stromal Tumors/genetics ; Gastrointestinal Stromal Tumors/pathology ; Genetic Predisposition to Disease ; Genetic Testing ; Germ-Line Mutation ; Humans ; Hyperpigmentation/drug therapy ; Hyperpigmentation/genetics ; Imatinib Mesylate/pharmacology ; Imatinib Mesylate/therapeutic use ; Neoplastic Syndromes, Hereditary/diagnosis ; Neoplastic Syndromes, Hereditary/drug therapy ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/pathology ; Proto-Oncogene Proteins c-kit/antagonists & inhibitors ; Proto-Oncogene Proteins c-kit/genetics ; Rectum/diagnostic imaging ; Rectum/pathology ; Skin/drug effects ; Skin/pathology ; Stomach/diagnostic imaging ; Stomach/pathology ; Tomography, X-Ray Computed ; Treatment Outcome ; Young Adult
    Chemical Substances Antineoplastic Agents ; Imatinib Mesylate (8A1O1M485B) ; KIT protein, human (EC 2.7.10.1) ; Proto-Oncogene Proteins c-kit (EC 2.7.10.1)
    Language English
    Publishing date 2017-07-14
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1502496-9
    ISSN 1573-7292 ; 1389-9600
    ISSN (online) 1573-7292
    ISSN 1389-9600
    DOI 10.1007/s10689-017-0024-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 6099: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    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