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Article: Persistent Hepatitis E Infection in a Patient with Tuberous Sclerosis Complex Treated with Everolimus: A Case Report.

van Dijk, Wobke E M / Vergeer, Menno A M H / Arends, Joop E

2017 Volume 6, Issue 2, Page(s) 291–295

Abstract: Introduction: The incidence of hepatitis E (HEV) genotype 3 is rising in developed countries. HEV infections are usually self-limiting, but can become chronic in immunocompromised patients. This might lead to rapid fibrosis development even resulting in ...

Abstract	Introduction: The incidence of hepatitis E (HEV) genotype 3 is rising in developed countries. HEV infections are usually self-limiting, but can become chronic in immunocompromised patients. This might lead to rapid fibrosis development even resulting in cirrhosis. Chronic HEV is mainly described in patients after solid-organ or hematological transplantations. We present the first case of HEV infection in a patient with tuberous sclerosis complex (TSC) treated with everolimus, a mammalian target of rapamycin (mTOR) inhibitor. Case: A 46-year-old male with TSC was referred to the infectious diseases department with an acute rise of liver enzymes during routine laboratory check-up. He was diagnosed with an acute HEV infection. His current treatment for TSC was everolimus. After awaiting a spontaneous clearance for 3 months, everolimus was discontinued. Hereafter, the infection was cleared within another 3 months. Discussion: Due to a favorable side-effect profile, everolimus is gaining popularity as an immunosuppressive therapy. However, in vitro experiments suggest that inhibition of mTOR leads to a significant increase in HEV replication. Thus far, there have been no clinical reports of HEV infections in patients treated with everolimus. Conclusion: Due to higher dosing of everolimus in TSC patients, they are more vulnerable to the development of chronic HEV infection. Periodic assessment of transaminases in these patients is advised.
Language	English
Publishing date	2017-03-03
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2701611-0
ISSN	2193-6382 ; 2193-8229
ISSN (online)	2193-6382
ISSN	2193-8229
DOI	10.1007/s40121-017-0147-0
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Article ; Online: Anacetrapib: new hope for cholesteryl ester transfer protein inhibitors in the treatment of dyslipidemia.

Vergeer, Menno / Kastelein, John J P

Nature clinical practice. Cardiovascular medicine

2008 Volume 5, Issue 6, Page(s) 302–303

Language	English
Publishing date	2008-06
Publishing country	England
Document type	Comment ; Journal Article
ZDB-ID	2177710-X
ISSN	1743-4300 ; 1743-4297
ISSN (online)	1743-4300
ISSN	1743-4297
DOI	10.1038/ncpcardio1190
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Article ; Online: The pharmacology and off-target effects of some cholesterol ester transfer protein inhibitors.

Vergeer, Menno / Stroes, Erik S G

The American journal of cardiology

2009 Volume 104, Issue 10 Suppl, Page(s) 32E–8E

Abstract: Inhibitors of cholesterol ester transfer protein (CETP) have the capacity to increase plasma high-density lipoprotein cholesterol to unprecedented levels. Still, hopes that CETP inhibition could reduce atherosclerosis were dented when the clinical ... ...

Abstract	Inhibitors of cholesterol ester transfer protein (CETP) have the capacity to increase plasma high-density lipoprotein cholesterol to unprecedented levels. Still, hopes that CETP inhibition could reduce atherosclerosis were dented when the clinical development of one such inhibitor, torcetrapib, was halted because of an unexpected finding of increased cardiovascular and noncardiovascular mortality against a background of elevated blood pressure and plasma aldosterone levels. Recently, evidence has accumulated to show that these untoward effects may have been largely attributable to off-target toxicity of the compound, unrelated to the mechanism of CETP inhibition and not shared by other CETP inhibitors. In this review, we explore the rationale for CETP inhibition, compare the pharmacology of the small molecule CETP inhibitors that reached clinical development, and address the evidence relating to off-target adverse effects.
MeSH term(s)	Aldosterone/blood ; Animals ; Anticholesteremic Agents/pharmacology ; Atherosclerosis/genetics ; Blood Pressure/drug effects ; Cholesterol Ester Transfer Proteins/antagonists & inhibitors ; Cholesterol Ester Transfer Proteins/genetics ; Cholesterol, HDL/blood ; Corticosterone/blood ; Humans ; Hydrocortisone/blood ; Hypercholesterolemia/drug therapy ; Hypercholesterolemia/genetics ; Oxazolidinones/pharmacology ; Quinolines/pharmacology ; Sulfhydryl Compounds/pharmacology
Chemical Substances	Anticholesteremic Agents ; Cholesterol Ester Transfer Proteins ; Cholesterol, HDL ; Oxazolidinones ; Quinolines ; Sulfhydryl Compounds ; dalcetrapib (3D050LIQ3H) ; Aldosterone (4964P6T9RB) ; torcetrapib (4N4457MV2U) ; anacetrapib (P7T269PR6S) ; Corticosterone (W980KJ009P) ; Hydrocortisone (WI4X0X7BPJ)
Language	English
Publishing date	2009-11-16
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	80014-4
ISSN	1879-1913 ; 0002-9149
ISSN (online)	1879-1913
ISSN	0002-9149
DOI	10.1016/j.amjcard.2009.09.017
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Article ; Online: Risk of breast cancer in patients with lymphangioleiomyomatosis.

Nuñez, Olivier / Baldi, Bruno G / Radzikowska, Elżbieta / Carvalho, Carlos R R / Herranz, Carmen / Sobiecka, Malgorzata / Torre, Olga / Harari, Sergio / Vergeer, Menno A M H / Kolbe, John / Pollán, Marina / Pujana, Miquel Angel

Cancer epidemiology

2019 Volume 61, Page(s) 154–156

Abstract: Lymphangioleiomyomatosis (LAM) is a rare metastasizing pulmonary disease that shares some clinical, cellular, and molecular similarities with metastatic breast cancer to lung. LAM cells have been identified circulating in various body fluids of patients ... ...

Abstract	Lymphangioleiomyomatosis (LAM) is a rare metastasizing pulmonary disease that shares some clinical, cellular, and molecular similarities with metastatic breast cancer to lung. LAM cells have been identified circulating in various body fluids of patients and, intriguingly, diverse evidence indicates that these cells may originate from a different organ to the lung. Following on from these observations, we hypothesized the existence of a common risk basis between LAM and breast cancer, and suggested increased risk of breast cancer among LAM patients. Here, by studying two additional LAM cohorts with more detailed epidemiological, life-style, and disease-related data, we show consistent results; a potential excess of estrogen-receptor-positive young breast cancer cases in LAM. This observation further suggests the need of prospective studies to precisely assess the association between both diseases.
MeSH term(s)	Breast Neoplasms/etiology ; Breast Neoplasms/pathology ; Female ; Humans ; Lymphangioleiomyomatosis/complications ; Lymphangioleiomyomatosis/pathology ; Neoplasm Metastasis ; Prospective Studies
Language	English
Publishing date	2019-06-28
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2508729-0
ISSN	1877-783X ; 1877-7821
ISSN (online)	1877-783X
ISSN	1877-7821
DOI	10.1016/j.canep.2019.06.004
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Article ; Online: Niacin compared with ezetimibe.

Duivenvoorden, Raphaël / Vergeer, Menno / Kastelein, John J P

The New England journal of medicine

2010 Volume 362, Issue 11, Page(s) 1046–7; author reply 1048

MeSH term(s)	Anticholesteremic Agents/therapeutic use ; Azetidines/therapeutic use ; Carotid Arteries/drug effects ; Cholesterol, LDL/blood ; Coronary Disease/drug therapy ; Drug Therapy, Combination ; Ezetimibe ; Humans ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Niacin/therapeutic use ; Tunica Intima/drug effects ; Tunica Media/drug effects
Chemical Substances	Anticholesteremic Agents ; Azetidines ; Cholesterol, LDL ; Hydroxymethylglutaryl-CoA Reductase Inhibitors ; Niacin (2679MF687A) ; Ezetimibe (EOR26LQQ24)
Language	English
Publishing date	2010-03-18
Publishing country	United States
Document type	Comment ; Letter
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
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Article ; Online: Well-differentiated Pancreatic Neuroendocrine Tumor in a Patient With Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM).

Noë, Michaël / Hackeng, Wenzel M / de Leng, Wendy W J / Vergeer, Menno / Vleggaar, Frank P / Morsink, Folkert H M / Wood, Laura D / Hruban, Ralph H / Offerhaus, G Johan A / Brosens, Lodewijk A A

The American journal of surgical pathology

2019 Volume 43, Issue 9, Page(s) 1297–1302

Abstract: Germline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), which is associated with an increased risk for pancreatic ductal adenocarcinoma and melanoma. CDKN2A is somatically inactivated in multiple neoplasms, ... ...

Abstract	Germline mutations in CDKN2A result in Familial Atypical Multiple Mole Melanoma Syndrome (FAMMM), which is associated with an increased risk for pancreatic ductal adenocarcinoma and melanoma. CDKN2A is somatically inactivated in multiple neoplasms, raising the possibility that, although the data are not conclusive, germline CDKN2A mutation may also impose an increased risk for other neoplasms. We present a patient with a CDKN2A germline mutation (p16-Leiden mutation) and mosaicism for neurofibromatosis type 2, who presented with a small asymptomatic pancreatic lesion, detected during endoscopic ultrasound screening of the pancreas. After resection, the lesion was found to be a well-differentiated pancreatic neuroendocrine tumor (PanNET). Molecular analysis of the tumor showed somatic loss of the second allele, supporting a causal relation of the PanNET to the underlying FAMMM syndrome. Recent data, showing the association between certain single-nucleotide polymorphisms in the CDKN2A gene and an increased incidence for PanNET, further support a role for germline CDKN2A alterations in PanNET risk. We conclude that PanNETs can be a phenotypic expression of FAMMM syndrome. This can have implications for screening and for the diagnosis of pancreatic neoplasms in carriers of germline CDKN2A mutations.
MeSH term(s)	Cyclin-Dependent Kinase Inhibitor p16/genetics ; Genes, p16 ; Humans ; Male ; Melanoma/genetics ; Middle Aged ; Mutation ; Neoplastic Syndromes, Hereditary/genetics ; Neuroendocrine Tumors/genetics ; Pancreatic Neoplasms/genetics
Chemical Substances	CDKN2A protein, human ; Cyclin-Dependent Kinase Inhibitor p16
Language	English
Publishing date	2019-07-24
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/PAS.0000000000001314
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Article: Epilepsy, impaired functioning, and quality of life in patients with tuberous sclerosis complex.

Vergeer, Menno / de Ranitz-Greven, Wendela L / Neary, Maureen P / Ionescu-Ittu, Raluca / Emond, Bruno / Sheng Duh, Mei / Jansen, Floor / Zonnenberg, Bernard A

Epilepsia open

2019 Volume 4, Issue 4, Page(s) 581–592

Abstract: Objective: To estimate health-related quality of life (HRQoL) in patients with tuberous sclerosis complex (TSC) and associated manifestations and to identify potential factors associated with HRQoL in this population of patients.: Methods: We ... ...

Abstract	Objective: To estimate health-related quality of life (HRQoL) in patients with tuberous sclerosis complex (TSC) and associated manifestations and to identify potential factors associated with HRQoL in this population of patients. Methods: We performed a retrospective chart review of adults with TSC who attended the outpatient clinic of the University Medical Center Utrecht in the Netherlands from 1990 to 2015 (N = 363; on average 33.6 years of follow-up). HRQoL data were assessed in 2012 using the Health Utility Index version 3 (HUI-3) questionnaire completed by patients or caregivers (N = 214 with HUI score and ≥1 TSC manifestation, including renal angiomyolipomas [rAMLs], subependymal giant cell astrocytoma [SEGA], or epilepsy). Results: Of 214 patients in the study sample, 171 had TSC-associated epilepsy (with or without rAML/SEGA), 37 had TSC and rAML (without epilepsy or SEGA), and 6 had other combinations of manifestations. The median HUI score for the 214 patients with ≥1 TSC manifestation was 0.51 (-0.371 to 1 scale, 1 = perfect health, 0 = death, <0 = worse than death). Among all components used to build the overall HUI score, the cognition component had the lowest score (mean = 0.47; 0-1 scale). Patients with TSC-epilepsy had significantly lower overall HUI than patients with TSC and rAML only (median HUI = 0.31 vs 0.95, Significance: This study showed that TSC-related epilepsy is associated with lower HUI, especially for patients who have refractory seizures for prolonged periods of time. Early and effective interventions to control or reduce seizures and preserve patients' cognitive functions may help to improve patients' quality of life.
Language	English
Publishing date	2019-10-27
Publishing country	United States
Document type	Journal Article
ISSN	2470-9239
ISSN	2470-9239
DOI	10.1002/epi4.12365
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Article ; Online: Cholesterol gene polymorphisms and cardiovascular events.

Vergeer, Menno / El-Harchaoui, Karim / Stroes, Erik S G

The New England journal of medicine

2008 Volume 359, Issue 1, Page(s) 92; author reply 93

MeSH term(s)	Cardiovascular Diseases/genetics ; Cholesterol, HDL/genetics ; Cholesterol, LDL/genetics ; Genotype ; Humans ; Polymorphism, Single Nucleotide
Chemical Substances	Cholesterol, HDL ; Cholesterol, LDL
Language	English
Publishing date	2008-07-03
Publishing country	United States
Document type	Comment ; Letter
ZDB-ID	207154-x
ISSN	1533-4406 ; 0028-4793
ISSN (online)	1533-4406
ISSN	0028-4793
DOI	10.1056/NEJMc080870
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Article ; Online: Incidence and risk factors for acute kidney injury in head and neck cancer patients treated with concurrent chemoradiation with high-dose cisplatin.

van der Vorst, Maurice J D L / Neefjes, Elisabeth C W / Toffoli, Elisa C / Oosterling-Jansen, Jolanda E W / Vergeer, Marije R / Leemans, C René / Kooistra, Menno P / Voortman, Jens / Verheul, Henk M W

BMC cancer

2019 Volume 19, Issue 1, Page(s) 1066

Abstract: Background: Three-weekly high-dose cisplatin (100 mg/m: Methods: This is a retrospective cohort study with measurements of renal function before CRT, weekly during CRT, every 1 or 2 days during hospitalizations, and 3 and 12 months after CRT in ... ...

Abstract	Background: Three-weekly high-dose cisplatin (100 mg/m Methods: This is a retrospective cohort study with measurements of renal function before CRT, weekly during CRT, every 1 or 2 days during hospitalizations, and 3 and 12 months after CRT in patients with LA-SCCHN. AKI was defined as increase in serum creatinine (sCr) of ≥1.5 times baseline or by ≥0.3 mg/dL (≥26.5 μmol/L) using the Kidney Disease Improving Global Outcomes (KDIGO) classification. Logistic regression models were estimated to analyze renal function over time and to identify predictors for AKI. Results: One hundred twenty-four patients completed all measurements. AKI was reported in 85 patients (69%) with 112 episodes of AKI. Sixty of 85 patients experienced 1 AKI episode; 20 patients experienced ≥2 AKI episodes. Ninety-three (83%) AKI episodes were stage 1, 13 (12%) were stage 2, and 6 (5%) AKI episodes were stage 3. Median follow-up time was 29 months (Interquartile Range, IQR 22-33). Hypertension (Odds Ratio, OR 2.7, 95% Confidence Interval, CI 1.1-6.6; p = 0.03), and chemotherapy-induced nausea and vomiting (CINV; OR 4.3, 95% CI 1.6-11.3; p = 0.003) were associated with AKI. In patients with AKI, renal function was significantly more impaired at 3 and 12 months post-treatment compared to patients without AKI. AKI did not have a negative impact on treatment outcomes. Conclusion: AKI occurred in 69% of patients with LA-SCCHN undergoing CRT with high-dose cisplatin. Long-term renal function was significantly more impaired in patients with AKI. Hypertension and CINV are significant risk factors. Optimizing prevention strategies for CINV are urgently needed.
MeSH term(s)	Acute Kidney Injury/chemically induced ; Acute Kidney Injury/epidemiology ; Adult ; Aged ; Antineoplastic Agents/administration & dosage ; Antineoplastic Agents/adverse effects ; Antineoplastic Agents/therapeutic use ; Chemoradiotherapy/adverse effects ; Cisplatin/administration & dosage ; Cisplatin/adverse effects ; Cisplatin/therapeutic use ; Creatinine/blood ; Female ; Follow-Up Studies ; Head and Neck Neoplasms/therapy ; Humans ; Hypertension ; Incidence ; Male ; Middle Aged ; Nausea/chemically induced ; Retrospective Studies ; Risk Factors ; Squamous Cell Carcinoma of Head and Neck/therapy ; Treatment Outcome ; Vomiting/chemically induced
Chemical Substances	Antineoplastic Agents ; Creatinine (AYI8EX34EU) ; Cisplatin (Q20Q21Q62J)
Language	English
Publishing date	2019-11-08
Publishing country	England
Document type	Journal Article
ISSN	1471-2407
ISSN (online)	1471-2407
DOI	10.1186/s12885-019-6233-9
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Article ; Online: Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood.

Both, Pauline / Ten Holt, Lyenne / Mous, Sabine / Patist, Joke / Rietman, André / Dieleman, Gwen / Ten Hoopen, Leontine / Vergeer, Menno / de Wit, Marie-Claire / Bindels-de Heus, Karen / Moll, Henriëtte / van Eeghen, Agnies

Epilepsy & behavior : E&B

2018 Volume 83, Page(s) 13–21

Abstract: Introduction: Transitioning into adulthood and from pediatric services to adult healthcare are both challenging processes for young adults with rare chronic disorders such as tuberous sclerosis complex (TSC) and their parents. Adult healthcare systems ... ...

Abstract	Introduction: Transitioning into adulthood and from pediatric services to adult healthcare are both challenging processes for young adults with rare chronic disorders such as tuberous sclerosis complex (TSC) and their parents. Adult healthcare systems are often less family-oriented and lack multidisciplinary care and experience with TSC, which can result in increased health risks and morbidity. Patient-driven data on care needs are necessary to optimize support for this vulnerable patient group. Aim: The aim of this study was to explore the concerns and care needs of young adult patients with TSC in medical, psychological, and socioeconomical domains. Method: A qualitative study was performed using semistructured interviews with 16 patients (median age: 21years; range: 17 to 30) and 12 parents. Concerns and care needs were organized using the International Classification of Functioning, Disability, and Health (ICF). Results: Main concerns involved mental and physical health, participation, self-management skills, family planning, and side effects of medications. Patients expressed the need for multidisciplinary care that is well-informed, easily accessible, and focused on the patient as a whole, including his/her family. Parents reported high stress levels. Conclusion: The current study provides patient-driven information, allowing recommendations to facilitate the (transition of) care for young adults with TSC. In addition to seizures, tumor growth, and TSC-associated neuropsychiatric disorders (TAND), more attention is needed for concerns and care needs specific to the transitional period, participation, and environmental factors. Adult healthcare providers should offer expert multidisciplinary care for adult patients with TSC, including attention for parental stress.
MeSH term(s)	Adolescent ; Adult ; Delivery of Health Care/trends ; Disabled Persons/psychology ; Female ; Health Services Needs and Demand/trends ; Humans ; Male ; Middle Aged ; Parents/psychology ; Qualitative Research ; Transitional Care/trends ; Tuberous Sclerosis/diagnosis ; Tuberous Sclerosis/psychology ; Tuberous Sclerosis/therapy ; Young Adult
Language	English
Publishing date	2018-04-07
Publishing country	United States
Document type	Journal Article
ZDB-ID	2010587-3
ISSN	1525-5069 ; 1525-5050
ISSN (online)	1525-5069
ISSN	1525-5050
DOI	10.1016/j.yebeh.2018.03.012
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