A5068935091- Testicular diseases and treatments
- Sperm and Testicular Function
- Renal and related cancers
- Neonatal and fetal brain pathology
- Cerebral Palsy and Movement Disorders
- Sexual Differentiation and Disorders
- Infant Development and Preterm Care
- Neonatal Respiratory Health Research
- Epilepsy research and treatment
- Neurogenetic and Muscular Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Urologic and reproductive health conditions
- Acute Ischemic Stroke Management
- Congenital gastrointestinal and neural anomalies
- Sarcoma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Clinical Nutrition and Gastroenterology
- Intestinal Malrotation and Obstruction Disorders
- Pregnancy and preeclampsia studies
- Blood Coagulation and Thrombosis Mechanisms
- Tuberous Sclerosis Complex Research
- Ion channel regulation and function
- Polyomavirus and related diseases
University of Copenhagen
2005-2025
Rigshospitalet
2016-2025
Copenhagen University Hospital
2013-2025
Capital Region of Denmark
2002-2025
Eisai (United States)
2024
Novo Nordisk Foundation
2024
Lundbeck Foundation
2024
Eisai (Japan)
2024
Dansk Sygehus Institut
2022
St. Davnet's Hospital
2019
Abstract We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with aim of describing clinical phenotypes related to effects. Six different subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); 2, intermediate 33, mild intellectual disability, partially pharmaco-responsive); 3, developmental epileptic...
Carcinoma in situ (CIS) is the common precursor of histologically heterogeneous testicular germ cell tumors (TGCTs), which recent decades have markedly increased and now are most malignancy young men. Using genome-wide gene expression profiling, we identified >200 genes highly expressed CIS, including many never reported neoplasms. Expression was further verified by semiquantitative reverse transcription-PCR hybridization. Among highest were NANOG POU5F1, revealed possible changes their...
Aims : NANOG is a key regulator of embryonic stem cell (ESC) self‐renewal and pluripotency. Our recent genome‐wide gene expression profiling study the precursor testicular germ tumours, carcinoma in situ testis (CIS), showed close similarity between ESC CIS, including high expression. In present we analysed protein during normal development human large series neoplastic/dysgenetic specimens. Methods results We detected abundant CIS CIS‐derived tumours with marked differences; seminoma...
Abstract This study was prompted by a hypothesis that testicular germ cell cancer may be aetiologically linked to other male reproductive abnormalities as part of the so‐called ‘testicular dysgenesis syndrome’ (TDS). To corroborate common association with dysgenesis, microscopic dysgenetic features were quantified in contralateral biopsies patients tumour. Two hundred and eighty consecutive from Danish diagnosed 1998–2001 evaluated retrospectively. eighteen specimens subsequently included...
Ion channel mutations can cause distinct neuropsychiatric diseases. We first studied the biophysical and neurophysiological consequences of four in human Na+ gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), intellectual disability autism without (R1620L, A1622D). Only combined electrophysiological recordings transfected wild-type mutant channels both neuroblastoma cells primary cultured neurons revealed clear genotype-phenotype correlations. The E1483K mutation showed no...
Abstract Aim To estimate the cumulative risk of epilepsy after neonatal seizures and identify subpopulations at increased risk. Method This was a nationwide register‐based cohort study including all children born in Denmark between 1997 2018. The with without compared. Furthermore, were stratified according to aetiology. Results We followed 1 294 377 identified 1998 survivors seizures. 20.4% (95% confidence interval [CI] = 18.5–22.3) among seizures, compared 1.15% CI 1.12–1.18) without....
Based on a well established association between testicular cancer and undescended testis more recent publications epidemiological links these disorders male infertility, we proposed the existence of dysgenesis syndrome (TDS). In most cases TDS presents with impaired spermatogenesis, only in rare full range its signs, including genital malformations can be seen one patient. order to further corroborate our hypothesis about presence patients abnormalities, decided re‐analyse biopsies derived...
Abstract Purpose: Transcription factor activator protein-2γ (TFAP2C, AP-2γ) was reported previously in extraembryonic ectoderm and breast carcinomas but not the testis. In our recent gene expression study we detected AP-2γ carcinoma situ testis (CIS, or intratubular germ cell neoplasia), precursor of testicular tumors. this aimed to investigate pattern shed light on differentiation pathogenesis neoplasia. Experimental Design: We analyzed at RNA protein level normal human tissues a panel...
Ovarian germ cell tumours (OGCTs) typically arise in young females and their pathogenesis remains poorly understood. We investigated the origin of malignant OGCTs underlying molecular events development various histological subtypes this neoplasia. examined situ expression stem cell-related (NANOG, OCT-3/4, KIT, AP-2γ) cell-specific proteins (MAGE-A4, NY-ESO-1, TSPY) using a tissue microarray consisting 60 OGCT samples eight ovarian small carcinoma samples. Developmental pattern NANOG, TSPY,...
Importance Breast cancer–specific mortality is increased among women with intellectual disability (ID), and knowledge about participation in breast cancer screening this group needed. Objective To examine the Danish national program ID compared without ID. Design, Setting, Participants This dynamic population-based cohort study assessed initiated 2007, targeting aged 50 to 69 years a interval of 2 years. In all, 6357 born between 1941 1967 eligible for were identified registers. Women...
No AccessJournal of UrologyCLINICAL UROLOGY: Original Articles1 Oct 2003Increased Risk Carcinoma In Situ Patients With Testicular Germ Cell Cancer Ultrasonic Microlithiasis the Contralateral Testicle METTE HOLM, CHRISTINA E. HOEI-HANSEN, EWA RAJPERT-DE MEYTS, and NIELS SKAKKEBÆK HOLMMETTE HOLM , HOEI-HANSENCHRISTINA HOEI-HANSEN MEYTSEWA MEYTS SKAKKEBÆKNIELS View All Author Informationhttps://doi.org/10.1097/01.ju.0000087820.94991.21AboutFull TextPDF ToolsAdd to favoritesDownload...
The carcinoma in situ (CIS) cell is the common precursor of nearly all testicular germ tumours (TGCT). In a previous study, we examined gene expression profile CIS cells and found many features to embryonic stem indicating that initiation neoplastic transformation into occurs early during foetal life. Progression an overt tumour, however, typically first happens after puberty, where transform either seminoma (SEM) or nonseminoma (N-SEM). Here, have compared genome-wide SEM sample containing...
Context: The pathogenesis and mechanisms behind the degeneration of seminiferous tubules in testes subjects with Klinefelter syndrome (KS) are yet unknown.
The randomised double-blinded placebo-controlled EXIST-1-3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms patients tuberous sclerosis complex (TSC), although evidence outcomes clinical practice remains limited. This study aimed to investigate, practice, the effectiveness and safety for epilepsy, renal angiomyolipoma (rAML), subependymal giant cell astrocytoma (SEGA) TSC.The included 64 TSC (median age: 19, range 0.9-54 years)...