[A case of clozapine-induced myoclonic epilepsy].

Clozapine is effective in treatment-resistant schizophrenia. However, clozapine has its own (well-) known side effects. We describe a case of a patient who developed epileptic seizures after starting clozapine.

[Male-female ratio in Dutch academic psychiatry].

Background   Psychiatry is at the forefront of the emancipation of women as medical specialists. The share of women in the training of psychiatrists is high. In the labor market of the academia, however, there are indications of structural inequality.

[CYP2D6 and CYP2C19 genotyping: effectivity in psychiatric practice].

Background: International guidelines recommend in patients with an in- or decreased CYP2D6 and CYP2C19 metabolism to adjust the dose of medication metabolized by these enzymes. This is in purpose to increase effectiveness and to lower the risk of side-effects of this medication. However, it is still unclear if dose adjustment based on genotype results in better clinical outcomes.

Meta-analysis of probability estimates of worldwide variation of CYP2D6 and CYP2C19.

Extensive migration has led to the necessity of knowledge regarding the treatment of migrants with different ethnical backgrounds. This is especially relevant for pharmacological treatment, because of the significant variation between migrant groups in their capacity to metabolize drugs. For psychiatric medications, CYP2D6 and CYP2C19 enzymes are clinically relevant.

Proxy WHO Disability Assessment Schedule 2.0 Is Clinically Useful for Assessing Psychosocial Functioning in Severe Mental Illness.

Aims: This study explores how well the World Health Organization Disability Assessment Schedule (WHODAS 2.0) assesses problems with psychosocial functioning in patients with severe mental illness (SMI). Further, we assessed the relationships between psychosocial functioning and psychopathology, medication side effects, treatment setting, and quality of life.

Retinal haemangioblastomas in von Hippel-Lindau germline mutation carriers: progression, complications and treatment outcome.

Purpose: Evaluation of phenotype and treatment outcome of retinal haemangioblastomas (RH) in von Hippel-Lindau (VHL) disease and correlation of these features with the genotype of VHL germline mutation carriers.

Methods: Retrospective analysis of a longitudinal cohort of 21 VHL germline mutation carriers and RH. Clinical and genetic data were obtained to analyse the correlation of genotype with phenotype and treatment outcomes.

Distinct blood and milk 18-carbon fatty acid proportions and buccal bacterial populations in dairy cows differing in reticulorumen pH response to dietary supplementation of rapidly fermentable carbohydrates.

Nine Holstein dairy cows were fed diets with increasing proportions of rapidly fermentable carbohydrates (RFCH) to investigate the effect on reticular pH, milk fat content (MFC), 18-carbon fatty acid proportions in blood plasma and milk, and bacterial community in buccal swab samples. Inter-animal variation was expected in terms of reticular pH response upon higher RFCH proportions, which would be reflected in the occurrence or not of milk fat depression (MFD). Moreover, this variation in occurrence of MFD was hypothesized to be related to differences in blood and milk fatty acid proportions and in the bacterial community in buccal samples.

Susceptibility of dairy cows to subacute ruminal acidosis is reflected in milk fatty acid proportions, with C18:1 trans-10 as primary and C15:0 and C18:1 trans-11 as secondary indicators.

The current study was carried out to assess 2 hypotheses: (1) cows differ in susceptibility to a subacute ruminal acidosis (SARA) challenge, and (2) the milk fatty acid (FA) pattern can be used to differentiate susceptible from nonsusceptible cows. For this, 2 consecutive experiments were performed. During experiment 1, the milk FA pattern was determined on 125 cows fed an increasing amount of concentrate during the first 4 wk in milk (WIM).

No Effect of Dose Adjustment to the Genotype in Patients With Severe Mental Illness.

The CYP2D6 enzyme is involved in the metabolism of numerous psychopharmacological drugs. Guidelines recommend how to adjust the dose of medication based on the genotype. To evaluate the effect of dose adjustment to the genotype and phenotype, in patients with severe mental illness (SMI) already receiving psychopharmacological treatment.

CYP2D6 and CYP2C19 genotyping in psychiatric patients on psychotropic medication in the former Dutch Antilles.

Aim: This study was aimed to asses the prevalence of CYP2D6 and CYP2C19 polymorphisms in psychiatric patients and in volunteers from Dutch caribbean origin.

Methods: In total, 435 individuals were genotyped for CYP2D6 and CYP2C19. Of these, 269 were psychiatric patients on psychotropic medication, living in Curaçao and 166 were volunteers from the Dutch Caribbean population.

Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases.

Purpose: To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients.

Design: Case series.

Participants: Cohort of 151 patients diagnosed with and treated for UM.

Metastatic disease in uveal melanoma: importance of a genetic profile?

Mutation of SF3B1 has been identified in low-grade uveal melanoma with a good prognosis. In this study, we compare chromosomal aberrations and gene mutations between a primary uveal melanoma and its multiple hepatic and peripancreatic metastases. DNA was isolated from a large primary uveal melanoma after fractionated stereotactic radiotherapy and three distinct metastases (two liver samples and one peripancreatic lymph node) to perform single-nucleotide polymorphism array and fluorescent in-situ hybridization.

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in another as yet unidentified gene.

Thallium and potassium uptake kinetics and competition differ between durum wheat and canola.

Thallium (Tl) is very toxic to mammals but little is known about its accumulation by plants, and it would be useful if prediction of Tl accumulation could be done using potassium (K) accumulation models. The objectives of this study were to compare the uptake kinetics of Tl(+) and K(+), and to determine how readily K(+) can inhibit Tl(+) uptake. Durum wheat (Triticum turgidum L.

Prevalence and implications of TERT promoter mutation in uveal and conjunctival melanoma and in benign and premalignant conjunctival melanocytic lesions.

Purpose: Hot-spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in cutaneous and conjunctival melanoma and are exceedingly rare in uveal melanoma. No information is available on the presence of these mutations in the conjunctival melanocytic precursor lesion primary acquired melanosis (PAM). We tested a cohort of uveal and conjunctival melanomas as well as conjunctival benign and premalignant melanocytic lesions for TERT promoter mutations in order to elucidate the role of these mutations in tumor progression.

Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

Esophageal Atresia (EA) is a severe developmental defect of the foregut that presents with or without a Tracheo-Esophageal Fistula (TEF). The prevalence of EA/TEF over time and around the world has been relatively stable. EA/TEF is manifested in a broad spectrum of anomalies: in some patients it manifests as an isolated atresia or fistula, but in over half it affects several organ systems.

Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma.

Uveal melanoma is a lethal cancer with a strong propensity to metastasize. Limited therapeutic options are available once the disease has disseminated. A strong predictor for metastasis is the loss of chromosome 3.

The prognostic value of extraocular extension in relation to monosomy 3 and gain of chromosome 8q in uveal melanoma.

Purpose: To identify the prognostic value of extraocular extension in enucleated uveal melanoma (UM) patients and to correlate extraocular extension to chromosomal aberrations, metastasis-free survival (MFS), and clinico-histopathological risk factors.

Methods: Retrospective study of patients with UM treated with enucleation between 1987 and 2011. Melanoma-related metastasis and death were recorded.

Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance.

Purpose: To examine the prognostic relevance of expression of the chemokine receptors CCR7 and CXCR4 and its ligand CXCL12 in uveal melanoma in nonmetastatic and metastatic patients with correlation to liver metastasis and overall survival.

Methods: Primary uveal melanoma specimens from 19 patients with correlating liver metastasis specimens and 30 primary uveal melanoma specimens of patients without metastasis were collected between the years 1988 and 2008. Expression of CCR7, CXCR4, and CXCL12 were studied using immunohistochemistry.

Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.

Background: Mutations in GNAQ and GNA11, encoding the oncogenic G-protein alpha subunit q and 11, respectively, occur frequently in the majority of uveal melanomas.

Methods: Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas. The mutation status was correlated with disease-free survival (DFS) and other parameters.

Multicolor FISH with improved sensitivity and specificity in the diagnosis of malignant melanoma.

The diagnosis of malignant melanoma remains a challenging aspect in the field of pathology. In the last years, FISH has become an important tool for the diagnosis of melanocytic tumors in addition to conventional microscopy. Benign and malignant melanomas can be discriminated using a four-probe FISH assay targeting 6p25, 6q23, Cep6 and 11q13.

Effect of supplementation with zinc and other micronutrients on malaria in Tanzanian children: a randomised trial.

Background: It is uncertain to what extent oral supplementation with zinc can reduce episodes of malaria in endemic areas. Protection may depend on other nutrients. We measured the effect of supplementation with zinc and other nutrients on malaria rates.

Predictive value of definitely abnormal general movements in the general population.

Aim: Definitely abnormal general movements in populations of high-risk infants predict serious neurodevelopmental impairment. This study aimed to assess predictive values of definitely abnormal general movements at 3 months for serious neurodevelopmental impairment in a representative sample of the general population.

Method: A prospective cohort study of 455 3-month-old infants was performed (241 females, 214 males; mean birthweight 3452g, SD 604g; mean gestational age 39.