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Article: Mineralocorticoid receptor status in the human brain after dexamethasone treatment: a single case study.

Koning, Anne-Sophie C A M / Habets, Philippe C / Bogaards, Marit / Kroon, Jan / van Santen, Hanneke M / de Bont, Judith M / Meijer, Onno C

Endocrine connections

2022 Volume 11, Issue 3

Abstract: Background: Synthetic glucocorticoids like dexamethasone can cause severe neuropsychiatric effects. They preferentially bind to the glucocorticoid receptor (GR) over the mineralocorticoid receptor (MR). High dosages result in strong GR activation but ... ...

Abstract	Background: Synthetic glucocorticoids like dexamethasone can cause severe neuropsychiatric effects. They preferentially bind to the glucocorticoid receptor (GR) over the mineralocorticoid receptor (MR). High dosages result in strong GR activation but likely also result in lower MR activation based on GR-mediated negative feedback on cortisol levels. Therefore, reduced MR activity may contribute to dexamethasone-induced neuropsychiatric symptoms. Objective: In this single case study, we evaluate whether dexamethasone leads to reduced MR activation in the human brain. Brain tissue of an 8-year-old brain tumor patient was used, who suffered chronically from dexamethasone-induced neuropsychiatric symptoms and deceased only hours after a high dose of dexamethasone. Main outcome measures: The efficacy of dexamethasone to induce MR activity was determined in HEK293T cells using a reporter construct. Subcellular localization of GR and MR was assessed in paraffin-embedded hippocampal tissue from the patient and two controls. In hippocampal tissue from the patient and eight controls, mRNA of MR/GR target genes was measured. Results: In vitro, dexamethasone stimulated MR with low efficacy and low potency. Immunofluorescence showed the presence of both GR and MR in the hippocampal cell nuclei after dexamethasone exposure. The putative MR target gene JDP2 was consistently expressed at relatively low levels in the dexamethasone-treated brain samples. Gene expression showed substantial variation in MR/GR target gene expression in two different hippocampus tissue blocks from the same patient. Conclusions: Dexamethasone may induce MR nuclear translocation in the human brain. Conclusions on in vivo effects on gene expression in the brain await the availability of more tissue of dexamethasone-treated patients.
Language	English
Publishing date	2022-03-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2668428-7
ISSN	2049-3614
ISSN	2049-3614
DOI	10.1530/EC-21-0425
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Article ; Online: Development of a blended communication training program for managing medically unexplained symptoms in primary care using the intervention mapping approach.

Houwen, Juul / de Bont, Olga A / Lucassen, Peter Lbj / Rosmalen, Judith G M / Stappers, Hugo W / Olde Hartman, Tim C / van Dulmen, Sandra

Patient education and counseling

2021 Volume 105, Issue 5, Page(s) 1305–1316

Abstract: Background: General practice (GP) training in how to communicate with patients with medically unexplained symptoms (MUS) is limited.: Objective: Development, implementation and evaluation of an evidence-based communication training program for GP ... ...

Abstract	Background: General practice (GP) training in how to communicate with patients with medically unexplained symptoms (MUS) is limited. Objective: Development, implementation and evaluation of an evidence-based communication training program for GP residents focused on patients with MUS in primary care. Methods: We used the intervention mapping (IM) framework to systematically develop the MUS training program. We conducted a needs assessment to formulate change objectives and identified teaching methods for a MUS communication training program. Next, we developed, implemented and evaluated the training program with 46 residents by assessing their self-efficacy and by exploring their experiences with the training. Results: The resulting program is a blended training with an online course and two training days. After attending the training program, GP residents reported significantly higher self-efficacy for communication with patients with MUS at four weeks follow up compared to baseline. Furthermore, GP residents experienced the training program as useful and valued the combination of the online course and training days. Conclusion and practice implications: We developed an evidence-based communication training program for the management of patients with MUS in primary care. Future research should examine the effect of the training on GP residents' communication skills in MUS consultations in daily practice.
MeSH term(s)	Communication ; Humans ; Medically Unexplained Symptoms ; Physician-Patient Relations ; Primary Health Care ; Referral and Consultation
Language	English
Publishing date	2021-09-14
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	605590-4
ISSN	1873-5134 ; 0738-3991
ISSN (online)	1873-5134
ISSN	0738-3991
DOI	10.1016/j.pec.2021.09.018
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Article ; Online: The course of health-related quality of life after the diagnosis of childhood cancer: a national cohort study.

van Gorp, Marloes / Irestorm, Elin / Twisk, Jos W R / Dors, Natasja / Mavinkurve-Groothuis, Annelies / Meeteren, Antoinette Y N Schouten van / de Bont, Judith / van den Bergh, Esther M M / van der Meer, Wietske van de Peppel / Beek, Laura R / Aarsen, Femke K / Streefkerk, Nienke / van Litsenburg, Raphaele R L / Grootenhuis, Martha A

BMC cancer

2023 Volume 23, Issue 1, Page(s) 855

Abstract: Background: Comprehensive insight in the longitudinal development of health-related quality of life (HRQOL) after childhood cancer diagnosis could improve quality of care. Thus, we aimed to study the course and biopsychosocial determinants of HRQOL in a ...

Abstract	Background: Comprehensive insight in the longitudinal development of health-related quality of life (HRQOL) after childhood cancer diagnosis could improve quality of care. Thus, we aimed to study the course and biopsychosocial determinants of HRQOL in a unique national cohort of children with cancer. Methods: HRQOL of 2154 children with cancer was longitudinally reported (median: 3 reports) between diagnosis and 5 years after, using the pediatric quality of life inventory generic core scales (PedsQL). HRQOL was modelled over time since diagnosis using mixed model analysis for children 2-7 years (caregiver-reports) and ≥ 8 years (self-reports). Differences in the course between hematological, solid and central nervous system malignancies were studied. Additional associations of demographics, disease characteristics (age at diagnosis, relapse, diagnosis after the national centralization of childhood cancer care and treatment components) and caregiver distress (Distress thermometer) were studied. Results: Overall, HRQOL improved with time since diagnosis, mostly in the first years. The course of HRQOL differed between diagnostic groups. In children aged 2-7 years, children with a solid tumor had most favorable HRQOL. In children aged ≥ 8 years, those with a hematological malignancy had lower HRQOL around diagnosis, but stronger improvement over time than the other diagnostic groups. In both age-groups, the course of HRQOL of children with a CNS tumor showed little or no improvement. Small to moderate associations (β: 0.18 to 0.67, p < 0.05) with disease characteristics were found. Centralized care related to better HRQOL (β: 0.25 to 0.44, p < 0.05). Caregiver distress was most consistently associated with worse HRQOL (β: - 0.13 to - 0.48, p < 0.01). Conclusions: The HRQOL course presented can aid in identifying children who have not fully recovered their HRQOL following cancer diagnosis, enabling early recognition of the issue. Future research should focus on ways to support children, especially those with a CNS tumor, for example by decreasing distress in their caregivers.
MeSH term(s)	Child ; Humans ; Neoplasms/diagnosis ; Cohort Studies ; Quality of Life ; Hematologic Neoplasms ; Self Report
Language	English
Publishing date	2023-09-11
Publishing country	England
Document type	Journal Article
ZDB-ID	2041352-X
ISSN	1471-2407 ; 1471-2407
ISSN (online)	1471-2407
ISSN	1471-2407
DOI	10.1186/s12885-023-11379-z
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Article ; Online: Non-dispensing pharmacist integrated in the primary care team: effect on the quality of physician's prescribing, a non-randomised comparative study.

Sloeserwij, Vivianne M / Zwart, Dorien L M / Hazen, Ankie C M / Poldervaart, Judith M / Leendertse, Anne J / de Bont, Antoinette A / Bouvy, Marcel L / de Wit, Niek J / de Gier, Han J

International journal of clinical pharmacy

2020 Volume 42, Issue 5, Page(s) 1293–1303

Abstract: Background Especially in elderly with polypharmacy, medication can do harm. Clinical pharmacists integrated in primary care teams might improve quality of pharmaceutical care. Objective To assess the effect of non-dispensing clinical pharmacists ... ...

Abstract	Background Especially in elderly with polypharmacy, medication can do harm. Clinical pharmacists integrated in primary care teams might improve quality of pharmaceutical care. Objective To assess the effect of non-dispensing clinical pharmacists integrated in primary care teams on general practitioners' prescribing quality. Setting This study was conducted in 25 primary care practices in the Netherlands. Methods Non-randomised, controlled, multi-centre, complex intervention study with pre-post comparison. First, we identified potential prescribing quality indicators from the literature and assessed their feasibility, validity, acceptability, reliability and sensitivity to change. Also, an expert panel assessed the indicators' health impact. Next, using the final set of indicators, we measured the quality of prescribing in practices where non-dispensing pharmacists were integrated in the team (intervention group) compared to usual care (two control groups). Data were extracted anonymously from the healthcare records. Comparisons were made using mixed models correcting for potential confounders. Main outcome measure Quality of prescribing, measured with prescribing quality indicators. Results Of 388 eligible indicators reported in the literature we selected 8. In addition, two more indicators relevant for Dutch general practice were formulated by an expert panel. Scores on all 10 indicators improved in the intervention group after introduction of the non-dispensing pharmacist. However, when compared to control groups, prescribing quality improved solely on the indicator measuring monitoring of the renal function in patients using antihypertensive medication: relative risk of a monitored renal function in the intervention group compared to usual care: 1.03 (95% CI 1.01-1.05, p-value 0.010) and compared to usual care plus: 1.04 (1.01-1.06, p-value 0.004). Conclusion This study did not demonstrate a consistent effect of the introduction of non-dispensing clinical pharmacists in the primary care team on the quality of physician's prescribing.This study is part of the POINT-study, which was registered at The Netherlands National Trial Register with trial registration number NTR-4389.
MeSH term(s)	Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Netherlands ; Outcome Assessment, Health Care ; Patient Care Team/organization & administration ; Pharmaceutical Services/organization & administration ; Pharmacists/organization & administration ; Polypharmacy ; Practice Patterns, Physicians'/standards ; Primary Health Care/organization & administration ; Professional Role ; Quality Indicators, Health Care ; Reproducibility of Results ; Young Adult
Language	English
Publishing date	2020-08-13
Publishing country	Netherlands
Document type	Comparative Study ; Journal Article ; Multicenter Study
ZDB-ID	2601204-2
ISSN	2210-7711 ; 2210-7703 ; 0928-1231
ISSN (online)	2210-7711
ISSN	2210-7703 ; 0928-1231
DOI	10.1007/s11096-020-01075-4
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Article ; Online: Non-dispensing pharmacists' actions and solutions of drug therapy problems among elderly polypharmacy patients in primary care.

Hazen, Ankie C M / Zwart, Dorien L M / Poldervaart, Judith M / de Gier, Johan J / de Wit, Niek J / de Bont, Antoinette A / Bouvy, Marcel L

Family practice

2019 Volume 36, Issue 5, Page(s) 544–551

Abstract: Objective: To evaluate the process of clinical medication review for elderly patients with polypharmacy performed by non-dispensing pharmacists embedded in general practice. The aim was to identify the number and type of drug therapy problems and to ... ...

Abstract	Objective: To evaluate the process of clinical medication review for elderly patients with polypharmacy performed by non-dispensing pharmacists embedded in general practice. The aim was to identify the number and type of drug therapy problems and to assess how and to what extent drug therapy problems were actually solved. Method: An observational cross-sectional study, conducted in nine general practices in the Netherlands between June 2014 and June 2015. On three pre-set dates, the non-dispensing pharmacists completed an online data form about the last 10 patients who completed all stages of clinical medication review. Outcomes were the type and number of drug therapy problems, the extent to which recommendations were implemented and the percentage of drug therapy problems that were eventually solved. Interventions were divided as either preventive (aimed at following prophylactic guidelines) or corrective (aimed at active patient problems). Results: In total, 1292 drug therapy problems were identified among 270 patients, with a median of 5 (interquartile range 3) drug therapy problems per patient, mainly related to overtreatment (24%) and undertreatment (21%). The non-dispensing pharmacists most frequently recommended to stop medication (32%). Overall, 83% of the proposed recommendations were implemented; 57% were preventive, and 35% were corrective interventions (8% could not be assessed). Almost two-third (64%) of the corrective interventions actually solved the drug therapy problem. Conclusion: Non-dispensing pharmacists integrated in general practice identified a large number of drug therapy problems and successfully implemented a proportionally high number of recommendations that solved the majority of drug therapy problems.
MeSH term(s)	Aged ; Aged, 80 and over ; Community Pharmacy Services/statistics & numerical data ; Cross-Sectional Studies ; Drug-Related Side Effects and Adverse Reactions/diagnosis ; Drug-Related Side Effects and Adverse Reactions/epidemiology ; Female ; General Practice ; Humans ; Inappropriate Prescribing/statistics & numerical data ; Male ; Medication Therapy Management/statistics & numerical data ; Netherlands ; Polypharmacy ; Prevalence ; Risk Factors
Language	English
Publishing date	2019-02-17
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	605939-9
ISSN	1460-2229 ; 0263-2136
ISSN (online)	1460-2229
ISSN	0263-2136
DOI	10.1093/fampra/cmy114
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Article ; Online: Longitudinal Household Assessment of Respiratory Illness in Children and Parents During the COVID-19 Pandemic.

de Hoog, Marieke L A / Sluiter-Post, Judith G C / Westerhof, Ilse / Fourie, Elandri / Heuvelman, Valerie D / Boom, Trisja T / Euser, Sjoerd M / Badoux, Paul / Reusken, Chantal / Bont, Louis J / Sanders, Elisabeth A M / Jaddoe, Vincent W V / Herpers, Bjorn L / Eggink, Dirk / Wildenbeest, Joanne G / Duijts, Liesbeth / van Houten, Marlies A / Bruijning-Verhagen, Patricia C J L

JAMA network open

2022 Volume 5, Issue 10, Page(s) e2237522

Abstract: Importance: In the early COVID-19 pandemic, SARS-CoV-2 testing was only accessible and recommended for symptomatic persons or adults. This restriction hampered assessment of the true incidence of SARS-CoV-2 infection in children as well as detailed ... ...

Abstract	Importance: In the early COVID-19 pandemic, SARS-CoV-2 testing was only accessible and recommended for symptomatic persons or adults. This restriction hampered assessment of the true incidence of SARS-CoV-2 infection in children as well as detailed characterization of the SARS-CoV-2 disease spectrum and how this spectrum compared with that of other common respiratory illnesses. Objective: To estimate the community incidence of SARS-CoV-2 infection in children and parents and to assess the symptoms and symptom severity of respiratory illness episodes involving SARS-CoV-2-positive test results relative to those with SARS-CoV-2-negative test results. Design, setting, and participants: This cohort study randomly selected Dutch households with at least 1 child younger than 18 years. A total of 1209 children and adults from 307 households were prospectively followed up between August 25, 2020, and July 29, 2021, covering the second and third waves of the COVID-19 pandemic. Participation included SARS-CoV-2 screening at 4- to 6-week intervals during the first 23 weeks of participation (core study period; August 25, 2020, to July 29, 2021). Participants in all households finishing the core study before July 1, 2021, were invited to participate in the extended follow-up and to actively report respiratory symptoms using an interactive app until July 1, 2021. At new onset of respiratory symptoms or a SARS-CoV-2 positive test result, a household outbreak study was initiated, which included daily symptom recording, repeated polymerase chain reaction testing (nose-throat swabs and saliva and fecal samples), and SARS-CoV-2 antibody measurement (paired dried blood spots) in all household members. Outbreaks, households, and episodes of respiratory illness were described as positive or negative depending on SARS-CoV-2 test results. Data on participant race and ethnicity were not reported because they were not uniformly collected in the original cohorts and were therefore not representative or informative. Exposures: SARS-CoV-2-positive and SARS-CoV-2-negative respiratory illness episodes. Main outcomes and measures: Age-stratified incidence rates, symptoms, and symptom severity for SARS-CoV-2-positive and SARS-CoV-2-negative respiratory illness episodes. Results: Among 307 households including 1209 participants (638 female [52.8%]; 403 [33.3%] aged <12 years, 179 [14.8%] aged 12-17 years, and 627 [51.9%] aged ≥18 years), 183 household outbreaks of respiratory illness were observed during the core study and extended follow-up period, of which 63 (34.4%) were SARS-CoV-2 positive (59 outbreaks [32.2%] during the core study and 4 outbreaks [2.2%] during follow-up). SARS-CoV-2 incidence was similar across all ages (0.24/person-year [PY]; 95% CI, 0.21-0.28/PY). Overall, 33 of 134 confirmed SARS-CoV-2 episodes (24.6%) were asymptomatic. The incidence of SARS-CoV-2-negative respiratory illness episodes was highest in children younger than 12 years (0.94/PY; 95% CI, 0.89-0.97/PY). When comparing SARS-CoV-2-positive vs SARS-CoV-2-negative respiratory illness episodes in children younger than 12 years, no differences were observed in number of symptoms (median [IQR], 2 [2-4] for both groups), symptom severity (median [IQR] maximum symptom severity score, 6 [4-9] vs 7 [6-13]), or symptom duration (median [IQR], 6 [5-12] days vs 8 [4-13] days). However, among adults, SARS-CoV-2-positive episodes had a significantly higher number (median [IQR], 6 [4-8] vs 3 [2-4]), severity (median [IQR] maximum symptom severity score, 15 [9-19] vs 7 [6-11]), and duration (median [IQR] 13 [8-29] days vs 5 [3-11] days; P < .001 for all comparisons) of symptoms vs SARS-CoV-2-negative episodes. Conclusions and relevance: In this cohort study, during the first pandemic year when mostly partial or full in-person learning occurred, the SARS-CoV-2 incidence rate in children was substantially higher than estimated from routine testing or seroprevalence data and was similar to that of adult household members. Unlike in unvaccinated adults, SARS-CoV-2 symptoms and symptom severity in children were similar to other common respiratory illnesses. These findings may prove useful when developing pediatric COVID-19 vaccine recommendations.
MeSH term(s)	Adolescent ; Adult ; Child ; Female ; Humans ; Cohort Studies ; COVID-19/diagnosis ; COVID-19/epidemiology ; COVID-19 Testing ; COVID-19 Vaccines ; Pandemics ; Parents ; SARS-CoV-2 ; Seroepidemiologic Studies ; Male
Chemical Substances	COVID-19 Vaccines
Language	English
Publishing date	2022-10-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2574-3805
ISSN (online)	2574-3805
DOI	10.1001/jamanetworkopen.2022.37522
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Article ; Online: Longitudinal development of fatigue after treatment for childhood cancer: a national cohort study.

Irestorm, Elin / van Gorp, Marloes / Twisk, Jos / Nijhof, Sanne / de Bont, Judith / Grootenhuis, Martha / van Litsenburg, Raphaele

Acta oncologica (Stockholm, Sweden)

2023 Volume 62, Issue 10, Page(s) 1309–1321

Abstract: Background: Fatigue is a distressing and prevalent long-term sequela of treatment for childhood cancer, and there is a need for longitudinal studies to investigate the development of fatigue over time. The objective of this study was to calculate growth- ...

Abstract	Background: Fatigue is a distressing and prevalent long-term sequela of treatment for childhood cancer, and there is a need for longitudinal studies to investigate the development of fatigue over time. The objective of this study was to calculate growth-curves for the longitudinal development of fatigue after treatment for childhood cancer, and to investigate the effects of biopsychosocial predictors. Materials and methods: Participants were recruited from a patient monitoring program and data extracted from medical records. Parent-proxy and self-report versions of PedsQL Results: CNS-tumors were associated with more cognitive fatigue than ST at the end of treatment, for both proxy-reports (-11.30, Discussion: Children and adolescents treated for CNS-tumors reported more fatigue than other participants after the end of treatment, and this difference remained over time. Results from this study may help to facilitate the early recognition of children with insufficient recovery of fatigue symptoms.
MeSH term(s)	Adolescent ; Humans ; Child ; Child, Preschool ; Neoplasms/therapy ; Cohort Studies ; Quality of Life ; Self Report ; Longitudinal Studies
Language	English
Publishing date	2023-09-07
Publishing country	England
Document type	Journal Article
ZDB-ID	896449-x
ISSN	1651-226X ; 0349-652X ; 0284-186X ; 1100-1704
ISSN (online)	1651-226X
ISSN	0349-652X ; 0284-186X ; 1100-1704
DOI	10.1080/0284186X.2023.2254477
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Article ; Online: Incidence rates and symptomatology of community infections with SARS-CoV-2 in children and parents: The CoKids longitudinal household study

de Hoog, Marieke / Post-Sluiter, Judith / Westerhof, Ilse / Fouri, Elandri / Heuvelman, Valerie / Boom, Trisja / Euser, Sjoerd M / Badoux, Paul / Reusken, Chantal / Bont, Louis / Sanders, Elisabeth / Jaddoe, Vincent / Herpers, Bjorn / Eggink, Dirk / Wildenbeest, Joanne / Duijts, Liesbeth / Houten, Marlies van

medRxiv

Abstract: AIM: The CoKids study aimed to estimate the community incidence of symptomatic and asymptomatic SARS-CoV-2 in children and parents and to assess the symptomatology of SARS-COV-2 infections relative to SARS-CoV-2 negative respiratory episodes. METHODS: In ...

Abstract	AIM: The CoKids study aimed to estimate the community incidence of symptomatic and asymptomatic SARS-CoV-2 in children and parents and to assess the symptomatology of SARS-COV-2 infections relative to SARS-CoV-2 negative respiratory episodes. METHODS: In this prospective study, households with at least one child <18 years were recruited from three existing Dutch cohorts. Participation included SARS-CoV-2 screening at 4-6 weeks intervals for all household members during 23 weeks of follow-up and active reporting of new onset respiratory symptoms until July 1st 2021. Follow-up was temporarily intensified following new onset respiratory symptoms in a household member or a SARS-CoV-2 positive screening test and included daily symptom recording, repeated PCR testing (nose-throat, saliva and fecal samples) and SARS-CoV-2 antibody measurement (paired dried blood spots) in all household members. Age-stratified incidence rates for SARS-CoV-2 positive and negative episodes were calculated. Symptomatology and disease burden of respiratory episodes were compared by SARS-CoV-2 status and age. RESULTS: In total 307 households were enrolled including 1209 subjects. We detected 64 SARS-CoV-2 positive and 118 SARS-CoV-2 negative respiratory outbreaks. The highest incidence rate was found in children <12 years for SARS-CoV-2 negative episodes (0.93/ person-year (PY); 95%CI: 0.88-0.96). The SARS-CoV-2 incidence in this age-group was 0.21/PY for confirmed only, and 0.41/PY if probable cases were included. SARS-CoV-2 incidence did not differ by age group (p>0.27). Nasal congestion/runny nose, with or without cough and fatigue were the three most prevalent symptom clusters for both SARS-CoV-2 positive and negative respiratory episodes. Among children, no differences were observed in the symptomatology and severity of SARS-CoV-2 positive versus negative respiratory episodes, whereas among adults, SARS-CoV-2 positive episodes had a higher number and severity of symptoms and with a longer duration p<0.001). CONCLUSION: Using active, longitudinal household follow up, we detected a high incidence rate of SARS-CoV-2 infections in children that was similar to adults. The findings suggest that after 20 months of COVID-19 pandemic, up to 2/3 of Dutch children < 12 years have been infected with SARS-CoV-2. Symptomatology and disease severity of SARS-CoV-2 in children is similar to respiratory illness from other causes. In adults, SARS-COV-2 positive episodes are characterized by more and prolonged symptoms, and higher severity. These findings may assist decisions on COVID-19 policies targeting children.
Keywords	covid19
Language	English
Publishing date	2021-12-11
Publisher	Cold Spring Harbor Laboratory Press
Document type	Article ; Online
DOI	10.1101/2021.12.10.21267600
Database	COVID19

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Article ; Online: De novo

Lehalle, Daphné / Vabres, Pierre / Sorlin, Arthur / Bierhals, Tatjana / Avila, Magali / Carmignac, Virginie / Chevarin, Martin / Torti, Erin / Abe, Yuichi / Bartolomaeus, Tobias / Clayton-Smith, Jill / Cogné, Benjamin / Cusco, Ivon / Duplomb, Laurence / De Bont, Eveline / Duffourd, Yannis / Duijkers, Floor / Elpeleg, Orly / Fattal, Aviva /

Geneviève, David / Guillen Sacoto, Maria J / Guimier, Anne / Harris, David J / Hempel, Maja / Isidor, Bertrand / Jouan, Thibaud / Kuentz, Paul / Koshimizu, Eriko / Lichtenbelt, Klaske / Loik Ramey, Valerie / Maik, Miriam / Miyakate, Sakoto / Murakami, Yoshiko / Pasquier, Laurent / Pedro, Helio / Simone, Laurie / Sondergaard-Schatz, Krista / St-Onge, Judith / Thevenon, Julien / Valenzuela, Irene / Abou Jamra, Rami / van Gassen, Koen / van Haelst, Mieke M / van Koningsbruggen, Silvana / Verdura, Edgard / Whelan Habela, Christa / Zacher, Pia / Rivière, Jean-Baptiste / Thauvin-Robinet, Christel / Betschinger, Joerg / Faivre, Laurence

Journal of medical genetics

2020 Volume 57, Issue 12, Page(s) 808–819

Abstract: Introduction: Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko's lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal ... ...

Abstract	Introduction: Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko's lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 ( Materials and methods: Subsequent data sharing allowed the clustering of Results: We describe the detailed clinical and molecular data of 17 individuals harbouring a Conclusion: This series further delineates the specific storage disorder-like phenotype with PM ascribed to
MeSH term(s)	Adolescent ; Adult ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics ; Child ; Child, Preschool ; Epilepsy/complications ; Epilepsy/genetics ; Epilepsy/pathology ; Female ; Genes, X-Linked/genetics ; Humans ; Infant ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Mosaicism ; Pathology, Molecular/standards ; Pigmentation Disorders/complications ; Pigmentation Disorders/genetics ; Pigmentation Disorders/pathology ; Whole Exome Sequencing ; Young Adult
Chemical Substances	Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; TFE3 protein, human
Language	English
Publishing date	2020-05-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2019-106508
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Article: Biological background of pediatric medulloblastoma and ependymoma: a review from a translational research perspective.

de Bont, Judith M / Packer, Roger J / Michiels, Erna M / den Boer, Monique L / Pieters, Rob

Neuro-oncology

2008 Volume 10, Issue 6, Page(s) 1040–1060

Abstract: Survival rates of pediatric brain tumor patients have significantly improved over the years due to developments in diagnostic techniques, neurosurgery, chemotherapy, radiotherapy, and supportive care. However, brain tumors are still an important cause of ...

Abstract	Survival rates of pediatric brain tumor patients have significantly improved over the years due to developments in diagnostic techniques, neurosurgery, chemotherapy, radiotherapy, and supportive care. However, brain tumors are still an important cause of cancer-related deaths in children. Prognosis is still highly dependent on clinical characteristics, such as the age of the patient, tumor type, stage, and localization, but increased knowledge about the genetic and biological features of these tumors is being obtained and might be useful to further improve outcome for these patients. It has become clear that the deregulation of signaling pathways essential in brain development, for example, sonic hedgehog (SHH), Wnt, and Notch pathways, plays an important role in pathogenesis and biological behavior, especially for medulloblastomas. More recently, data have become available about the cells of origin of brain tumors and the possible existence of brain tumor stem cells. Newly developed array-based techniques for studying gene expression, protein expression, copy number aberrations, and epigenetic events have led to the identification of other potentially important biological abnormalities in pediatric medulloblastomas and ependymomas.
MeSH term(s)	Brain Neoplasms/genetics ; Child ; Ependymoma/genetics ; Humans ; Medulloblastoma/genetics
Language	English
Publishing date	2008-08-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2028601-6
ISSN	1523-5866 ; 1522-8517
ISSN (online)	1523-5866
ISSN	1522-8517
DOI	10.1215/15228517-2008-059
Database	MEDical Literature Analysis and Retrieval System OnLINE

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