[Electroconvulsive therapy in the Netherlands: the practice in 2015 compared to that in 2008]. / Elektroconvulsietherapie in Nederland: de praktijk in 2015 vergeleken met die in 2008.

BACKGROUND: The most recent information about the use of ECT in the Netherlands dates from 2008. An update version of the guideline for the use of ECT in the Netherlands was issued in 2010. AIM: To obtain insight into the practice of ECT in the Netherlands five years after implementation of the guideline. METHOD: Our study is based on a questionnaire about the use of ECT by psychiatrists in all Dutch institutions (n=33). Questions concerned the use and availability of ECT as well as the implementation of the updated guideline; they also served as a check on the expertise and training of ECT-psychiatrists. RESULTS: All institutions responded. The total number of ECT-sessions performed in 2015 was 15,633, a 16% increase compared to 2008. In 2015 more institutions were using 7x24 ECT and more had an ECT-nurse available. Nearly all psychiatrists were acquainted at the time with the revised guideline of 2010 and nearly 50% of them had adjusted the way they practised ECT. However, just under 40% of psychiatrists did not have the correct knowledge about some technical details regarding ECT. CONCLUSION: The revised guideline on ECT and its implementation have most likely improved the practice of ECT in the Netherlands.

[Music as an uninvited guest: the auditive variant of the Charles Bonnet syndrome]. / Muziek als ongenode gast: de auditieve variant van syndroom van Charles Bonnet.

Visually handicapped patients can be tormented by complex visual hallucinations (Charles Bonnet syndrome). Likewise, deaf patients and patients with impaired hearing can be plagued by auditory hallucinations, mostly involving music. Our article focuses on three female patients who suffered from musical hallucinations. In one of these patients the hallucinations ceased when her hearing was restored. In the second patient the hallucinations ceased when carbamazepine was prescribed. Quetiapine reduced the musical hallucinations in the third patient. The differential diagnoses and therapeutic options are discussed.

[Palliative care in a psychiatric-somatic care unit]. / Palliatieve zorg op een psychiatrisch-medische unit.

Patients with severe psychiatric and somatic disorders may require admission to a combined psychiatric-somatic care unit. These units provide specialised psychiatric and somatic care as well as palliative care. This is illustrated by two case reports. A 51-year-old man with a malignant brain tumour was admitted to our psychiatric-somatic care unit after threatening his wife and children. He was aggressive and confused. Seizures were suspected and palliative care was needed. Within a few weeks his condition deteriorated. He died 1 day after terminal sedation had been initiated. A 78-year-old woman was admitted to receive daily electroconvulsive treatment (ECT) for depression with catatonia. The ECT had to be interrupted repeatedly due to comorbid infections and complications. She died 3 days after palliative care was initiated.

[Apathetic geriatric patient benefits from methylphenidate]. / Apathische kwetsbare oudere heeft baat bij methylfenidaat.

Two independent, home-dwelling geriatric patients presented with apathy at a general practice in the Netherlands and were seen by an elderly care physician after (non-)medical interventions had failed. Both patients were treated with low-dose methylphenidate. During treatment, apathy symptoms decreased and the patients became more active. Apathy is a frequent symptom of several neuropsychiatric diseases, depression and somatic conditions. Its incidence varies from 1.3% in healthy elderly people to more than 50% in the elderly with depression or dementia. In this clinical lesson we present these two cases and discuss considerations for treatment of apathy with methylphenidate.

[Psychoses and epilepsy. A case study]. / Psychosen en epilepsie.

Over the last few decades much research has been done into the raised level of psychiatric comorbidity in epilepsy. On the basis of a case study of a patient suffering from post-ictal psychoses we explain the psychiatric differential diagnosis within the framework of epilepsy and we investigate the frequent psychiatric side-effects of anticonvulsants. It is concluded that the links between epilepsy and psychiatric symptoms are complex and that the neuropsychiatry of epilepsy is concerned with syndromes that are unique and do notfit into modern psychiatric classification systems.

Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience.

The chance of a male with severe oligozoospermia or azoospermia achieving a pregnancy has undergone a revolutionary increase with the introduction of the intracytoplasmic sperm injection technique (ICSI). However, since ICSI circumvents part of the natural sperm selection mechanisms, the possible transmission of genetic defects to the offspring is a major concern. Cytogenetic analysis is a relatively simple technique to identify at least the carriers of a chromosomal aberration before starting the ICSI procedure. In order to assess the frequency of chromosomal aberrations in male ICSI candidates, we have performed a nationwide cytogenetic study. Of the 1792 males examined, 72 (4.0%) revealed a chromosomal aberration, and one individual even had two. Numerical sex chromosomal aberrations and Robertsonian translocations predominated, followed by reciprocal translocations, inversions and supernumerary marker chromosomes. The different implications, in case a chromosomal aberration is encountered prior to ICSI, are discussed.

Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.

We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad.

Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.

OBJECTIVE: To examine the frequency of anomalies of the vas deferens and the frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in male candidates for intracytoplasmic sperm injection (ICSI) who had severe oligoasthenoteratozoospermia. DESIGN: The clinical data for male candidates for ICSI were studied. The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. Delta I507 is also detected by the deltaF508 test. Samples of DNA from patients identified as CFTR mutation carriers were subjected to denaturing gradient gel electrophoresis analysis with use of a two-dimensional electrophoretic technique. SETTING: University-based center for reproductive medicine and clinical genetics. PATIENT(S): Male candidates for ICSI who had oligoasthenoteratozoospermia and no history of operative sterilization and refertilization. Males with a chromosomal aberration or a Y-chromosome microdeletion were excluded. INTERVENTION(S): Semen and blood samples were collected from the patients at their first visit to the clinic. MAIN OUTCOME MEASURE(S): Frequency of anomalies of the vas deferens and frequency of mutations of the CFTR gene in male candidates for ICSI who had oligoasthenoteratozoospermia. RESULT(S): None of the patients had abnormalities of the vas deferens at physical examination. In 4 of the 150 chromosomes (75 patients), a CFTR mutation was found, yielding a CFTR mutation frequency of 2.7% (95% confidence interval, 1.0-6.7%). None of the patients had two CFTR mutations. CONCLUSION(S): The frequency of congenital abnormalities of the vas deferens in patients with oligoasthenoteratozoospermia is low. The frequencies of the CFTR mutations identified in this cohort did not differ significantly from the frequencies found in the normal Dutch population.

Prenatally detected marker chromosome identified as an i(22)(p10) using (micro)FISH.

MicroFISH was used to elucidate the chromosomal origin of a prenatally detected marker chromosome. Five copies of the marker chromosome were collected from GTG-banded metaphases and amplified by means of DOP-PCR. The PCR product was labeled with blotine-14-dATP and used as a FISH probe for hybridization to metaphase chromosomes of the fetus (reverse painting). The marker appeared to be derived from the short arm of (an) acrocentric chromosome(s). After FISH with centromere-specific and band-specific probes complete characterization was possible and the marker chromosome appeared to consist of two short arms of chromosome 22. The pregnancy was continued and one year after birth the patient is developing normal.

Radial defects and testicular dysfunction: a new syndrome?

We describe two unrelated male patients with radial ray defects and increased serum concentrations of follicle stimulating hormone due to testicular dysfunction. This combination of features has not previously been described. Several mouse genes are known to be involved in preaxial limb development and male fertility, suggesting that the combination of radial ray defects and testicular dysfunction may represent a new syndrome in humans. Abnormalities of spermatogenesis or sperm function may constitute an under-recognized feature of human multiple congenital malformation syndromes.

[Repeated suicide attempts: a need for continued care]. / Recidiverende suïcidepogers: hulp blijven aanbieden.

Prevention of deliberate self-harm, especially suicide attempts, remains difficult and this puts a great burden on the family as well as on the health-care professionals. The risk of a subsequent suicide attempt or a successful suicide is high while the behaviour is often met with antipathy, a feeling of helplessness and anger. This is in conflict with the needs of the patient; every suicide attempt requires the health-care professionals involved to exhibit a emphatic, patient and serious attitude, even when patients refuse to cooperate, are restless, aggressive or unwilling to communicate. Prevention of the suicidal behaviour can only be achieved this way.

[Genetic investigation required in male infertility]. / Genetisch onderzoek bij mannelijke infertiliteit; een noodzaak.

Four men aged 38, 31, 27 and 35 years were examined because of infertility. The first three had idiopathic oligozoospermia, the other bilateral ductus deferens agenesis. They were referred for intracytoplasmic sperm injection (ICSI). Clinical genetic investigation including thorough family history, chromosome investigation and molecular DNA investigation revealed that one patient had mosaicism for Klinefelter syndrome (46,XY/47,XXY), the second a familial balanced translocation (46,XY,t(4;16)) and the third a microdeletion in the AZFc region of the Y chromosome, while the fourth was homozygous for a cystic fibrosis mutation. In view of new fertilisation techniques such as ICSI, clinical genetic investigation is of great importance. It is not known whether these new techniques facilitate transmission of genetic disorders. Long-term follow-up of children conceived by ICSI is required.

[From gene to disease; deletion of the DAZ-gene from the Y-chromosome in oligo- or azoospermia ]. / Van gen naar ziekte; deletie van het DAZ-gen op het Y-chromosoom en oligo- of azoöspermie.

DAZ gene deletions at the azoospermia factor (AZF) locus on the Y chromosome, have been implicated as one of the major causes of idiopathic male subfertility. Deletions of the entire DAZ gene have been reported in azoospermia as well as in oligozoospermia. The DAZ gene encodes a RNA binding protein which is expressed exclusively in germ cells. The exact biological role and function of the DAZ protein has yet to be resolved.

[Perinatal asphyxia as incorrect explanation for mental retardation]. / 'Perinatale asfyxie' als onterechte verklaring voor mentale retardatie.

Three women, aged 21, 34 and 32 and with a family history of mental retardation said to be caused by perinatal asphyxia, each gave birth to a child with mental retardation. A chromosomal translocation, fragile X syndrome, and myotonic dystrophy could be diagnosed, respectively. In retrospect, the diagnosis of perinatal asphyxia in the family history had been too readily accepted. In reality the mental retardation was caused by a genetic disorder. Physicians are used to making a diagnosis, and when a diagnosis is not (yet) possible, they try to establish a working diagnosis or differential diagnosis. Too often such a working diagnosis becomes, through time, a definite diagnosis.

[Down syndrome in the northeastern Netherlands; expectations and reality 1981-1986]. / Down-syndroom in Noordoost-Nederland; verwachting en realiteit 1981-1986.

Down syndrome is caused by presence in triplicate of (a part of) chromosome 21, usually on the basis of a standard trisomy-21. The risk of a child's having a standard trisomy-21 depends on the mother's age. On the basis of the maternal age distribution and age-specific risks, the expected number of neonates with Down syndrome born in 1981-1986 in the EUROCAT region North-East Netherlands is calculated. The number of neonates with Down syndrome registered with EUROCAT does not differ to a statistically significant extent from the expected number. The influence of the rising age-specific fertility in women over 28 years of age and the effect of the moving-up of the increasingly large birth cohorts 1945-1965 are discussed. If the uptake rate for prenatal cytogenetic diagnosis remains constant, these factors will in the next few years lead to an increase of the prevalence of Down syndrome among full-term infants.

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX,+18/70,XXX,+18 mosaic. A remarkable diploid-triploid discrepancy after CVS.

A 70,XXX,+18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.