[A boy with treatment-resistant psychiatric problems: X-linked adrenoleukodystrophy]. / Een adolescent met psychiatrische problemen die niet reageerden op behandeling: X-gebonden adrenoleukodystrofie.

In this case report we describe a 17-year-old boy with severe behavioural disorders, apathy and cognitive decline who was eventually diagnosed with X-linked adrenoleukodystrophy (x-ald). If a patient presents with a combination of psychiatric and neurological problems, metabolic diseases such as x-ald should be included in the differential diagnosis.

Cardiac responses of vagus nerve stimulation: intraoperative bradycardia and subsequent chronic stimulation.

OBJECTIVES: Few adverse events on heart rate have been reported with vagus nerve stimulation (VNS) for refractory epilepsy. We describe three cases with intraoperative bradycardia during device testing. PATIENTS AND METHODS: At our hospital 111 patients have received a VNS system. Intraoperative device testing is performed under ECG-monitoring. We reviewed the patients and their VNS-therapy follow-up outcome who experienced a change in heart rate, during device testing (Lead Test). RESULTS: Three patients with medically refractory epilepsy showed a bradycardia during intraoperative Lead Test. Postoperative the VNS-therapy started under ECG-monitoring. No change in cardiac rhythm occurred. Subsequent chronic stimulation is uneventful. All three have reduced seizure frequency. Two already have had their second implant, without the occurrence of bradycardia. CONCLUSION: In case of intraoperative bradycardia VNS-therapy onset should be done under ECG-monitoring. Subsequent chronic stimulation is safe in respect to heart rate. Bradycardia during intraoperative device testing is no reason to abort the operation.

Vagus nerve stimulation for medically refractory epilepsy: a long-term follow-up study.

INTRODUCTION: Vagus nerve stimulation (VNS) is thought to have a cumulative effect in time on seizure frequency reduction. There also might be other variables than reduction of seizure frequency in order to determine VNS efficacy. In this study we describe the long-term outcome of the first group of vagus nerve stimulation patients with pharmacoresistant epilepsy at the Medisch Spectrum Twente, The Netherlands. METHODS: This long-term descriptive prospective study included 19 patients, 11 males and 8 females, aged 17-46 years with pharmacoresistant epilepsy. They had received 3-16 (mean 9) different anti-epileptic drugs and were not eligible for surgical resection of an epileptic focus. A vagus nerve stimulator was implanted in the period April 1999-October 2001. Follow-up ranges from 2 to 6 years (mean 4 years). Efficacy was measured as the percentage change in seizure rate during 1 year and then after each year follow-up of VNS compared to 5 months baseline before implantation. RESULTS: Mean seizure reduction at 1-6 years was, respectively, 14% (n = 19), 25% (n =1 9), 29% (n = 16), 29% (n = 15), 43% (n = 9) and 50% (n = 7). Because of VNS two patients were able to start living without supervision. One patient died after 2 years of follow-up possibly as a result of SUDEP. Four patients had no apparent reduction in seizure frequency. Two of them had their stimulator removed. The other two patients however had significantly reduced post-ictal periods and seizure time and received a new pulse generator when the battery was depleted. One stimulator was switched off due to adverse effects, even though there was a positive effect on his seizure reduction. In six patients the medication regimen was changed during VNS by adding one anti-epileptic drug, however without significant change in seizure reduction. Adverse effects were hoarseness and coughing during stimulation. One patient had a temporary paralysis of his left vocal cord. CONCLUSION: We think that VNS is an effective treatment for pharmacoresistant epilepsy and its positive effect persists during the years of follow-up. Our results suggest that seizure reduction should not be considered as the only variable of importance to describe the outcome of VNS on epilepsy and it is worthwhile to look at other outcome measures.

[Vagus nerve stimulation in patients with drug-resistant epilepsy]. / N.-vagusstimulatie bij patiënten met medicatieresistente epilepsie.

OBJECTIVE: To describe the mechanism and first results of vagus nerve stimulation at the Medisch Spectrum Twenty, the Netherlands, for the treatment of patients with drug-resistant epilepsy. DESIGN: Descriptive retrospective. METHOD: Fifteen patients, 8 male and 7 female, aged 18-45 years with drug-resistant epilepsy, who were not eligible for surgical resection of an epileptic focus, received a vagus nerve stimulator implant in the period April 1999-December 2000. Whilst the vagus nerve stimulator was being adjusted, the medication remained unchanged. RESULTS: Due to vagus nerve stimulation the mean seizure frequency decreased by 32% (range: +20% to -100%). In 6 patients there was a strong reduction in seizure frequency, in 3 there was a mild reduction, and in 6 patients there was no apparent effect. The most common adverse events during stimulation were a mild prickly cough and a change of voice during stimulation. In one patient a temporary left vocal cord paralysis was observed, which may possibly have been a result of the procedure. CONCLUSION: Vagus nerve stimulation is an effective means of treatment for drug-resistant epilepsy and is therefore a treatment option that deserves more attention in the Netherlands.

White matter medullary infarcts: acute subcortical infarction in the centrum ovale.

Acute infarction confined to the territory of the white matter medullary arteries is a poorly characterised acute stroke subtype. 22 patients with infarction confined to this vascular territory on CT and/or MRI were identified from a series of 1,800 consecutive admissions to our stroke unit (1.2%) between August 1993 and March 1997. 19 patients had small infarcts (< 1.5 cm maximum diameter) and 3 large infarcts (> 1.5 cm). Small infarcts were associated with a history of smoking (69%), hypertension (58%), and hyperlipidaemia (37%), and less frequently with atrial fibrillation (21%). Significant (>50%) ipsilateral carotid stenosis (16%) was a less frequent finding in this group. Patients most commonly presented with weakness and/or sensory disturbance affecting mainly the upper limbs, but dysarthria, dysphasia, and ataxia were also seen. Large infarcts were infrequent in our series, but did not differ significantly from small infarcts with respect to clinical presentation or risk factor profiles (p > 0.05 for all comparisons). The majority of symptomatic patients with white matter medullary infarcts are associated with small (< 1.5 cm diameter) lesions and a risk factor profile consistent with small vessel disease. More data are required to elucidate the mechanism of larger (> 1.5 cm) infarcts. Because of the potential overlap between white matter medullary infarcts and internal watershed infarcts, suggested criteria for each are presented.

Toward lower cesarean birth rates and effective care: five years' outcomes of joint private obstetric practice.

BACKGROUND: Many ways to improve perinatal outcomes, deliver cost-effective care, and increase client and caregiver satisfaction have been suggested. This article adds to the body of such literature by describing a joint practice in California and reporting five years of its outcomes. METHOD: Frequency data were recorded prospectively for all pregnant women seen between January 1, 1991, and December 31, 1995. Overall statistics and variable-specific frequencies were then analyzed for the 1303 consecutive singleton births that occurred during this period. RESULTS: The primary cesarean birth rate for the sample was 6.5 percent, the total rate was 9.1 percent, and the rate for women having their first full-term pregnancy was 11.3 percent. Of all women with a previous cesarean birth, 72.2 percent delivered vaginally. The success rate of attempted vaginal births after cesarean was 83.5 percent. Instrument deliveries were performed for 2.0 percent of births, and the frequency of third- or fourth-degree lacerations was 3.0 percent of all vaginal births. Transfers to a tertiary neonatal intensive care unit were 1.3 percent, and the perinatal mortality rate was 5.4 per 1000 births (corrected for serious anomalies: 3/1000). The preterm birth rate (including maternal transfers) was 2.0 percent. CONCLUSION: An obstetric practice in a private community hospital setting that effectively used obstetricians, nurse-midwives, and nurse practitioners reported low rates of cesarean birth, preterm birth, severe lacerations, instrument deliveries, and legal incidents, and excellent cost-effective maternal and neonatal outcomes.

[Neurofibromatosis type 2]. / Neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is a complex and progressively disabling disease, resulting from development of multiple central nervous system tumours. Two case studies, one of a woman who suffered hearing problems from the age of 17 and one of a man with cataract as the first symptom at the age of five, illustrate the complex course of the disease. The first patient died of her disease, the second due to a traffic accident. It is necessary to anticipate the frequent development of new neoplasms. The regular communication between the various disciplines involved in the patient's care is instrumental to reach this goal. This multidisciplinary approach should also play a part in the screening of patients at risk for NF2.

The synthetic phosphagen cyclocreatine phosphate inhibits the growth of a broad spectrum of solid tumors.

BACKGROUND: The brain isoform of creatine kinase (CKBB), an enzyme involved in energy metabolism, has been implicated in cellular transformation process. Cyclocreatine (CCr), a creatine kinase (CK) substrate analogue, was shown to inhibit the growth of a broad spectrum of solid tumors expressing high levels of CK. Cyclocreatine phosphate (CCrP) generated by CK, was proposed to be the active form responsible for growth inhibition. MATERIALS AND METHODS: We synthesized CCrP and tested its cellular uptake and anti tumor activity in stem cell assays and in athymic mouse models. RESULTS: CCrP seems to be taken up by cells and inhibits the growth of solid tumors with high levels of CK. CCr and CCrP have similar specificity and potency. CONCLUSION: The observation that only high-CK cell lines were responsive to CCrP, similar to CCr, indicates that the enzyme requirement was not bypassed. We propose that CK is a target for CCrP, and is involved in mediating its antiproliferative activity.

A comparison of outcomes between joint and physician-only obstetric practices.

Since 1981, the cesarean birth rate of a joint practice has been consistently lower than that of physician-only practices at a private community hospital in Yolo County, California. This study sought to determine whether differences in perinatal outcomes were influenced by women's use of a joint versus a physician-only practice or were associated with parity, maternal age, or newborn birthweight. Data from the hospital's 1634 consecutive singleton births in 1990 were examined, using a prospective concurrent analytic cohort study design. Chi square statistics and stepwise logistic regressions were used for data analysis. The joint practice had a significantly lower rate of total cesarean births (9.3%) compared with the physician-only practices (17.7%); the frequencies of severe lacerations were 1.0 percent and 6.4 percent, respectively. No significant differences were found in parity, birthweight, or newborn outcomes in the two types of practice. Type of practice was the major determinant of cesarean birth (p < 0.0001). All variables studied, including type of practice, were significant determinants of primary cesarean birth. Parity and practice type were significant determinants of third- and fourth-degree lacerations (p < 0.0001). The type of practice from which women receive care is significantly associated with both method of birth and possibility of severe perineal trauma.

The Yolo County Midwifery Service. A descriptive study of 496 singleton birth outcomes, 1990.

The Yolo County Midwifery Service was begun in January 1989 to serve pregnant low-income women who were denied care by local obstetricians. In 1990, 58% of women served were Latina and 33% were Anglo-white. Their mean age was 24.5 +/- 5.5 years, and their mean level of education was 9.9 +/- 3.5 years. Thirty-seven percent were nulliparous. All deliveries were at the only hospital in the county with a maternity service. To evaluate the effectiveness of nurse-midwifery care in this sample, a prospective study of the service's 496 singleton birth outcomes during 1990 was undertaken. Although the cesarean rate in 1990 for the obstetricians not associated with the midwifery service at this hospital was 20.6%, the midwifery clients experienced a primary cesarean birth rate of 3.7% and a total rate of 6.7%. Instrument-assisted deliveries took place for 1.0% of births. The success rate for women attempting vaginal birth after cesarean was 87.2%. Delivery over an intact perineum occurred for 51.8%. Preterm birth was experienced by only 1.0% of the women. A newborn birth weight of < 2,500 g occurred in 2.4% of births. Occult cord prolapse preceded a single neonatal death, resulting in a perinatal and neonatal death rate of two per 1,000. These data add to the growing body of information about nurse-midwifery in which that care is found to be a safe, well-accepted, and cost-effective adjunct to existing obstetric care services.

Social learning intervention to promote metabolic control in type I diabetes mellitus: pilot experiment results.

Patients with type I, or insulin-dependent, diabetes mellitus (IDDM) must comply with a complex behavioral regimen to control their diabetes. Compliance is often poor in teenage patients who are adversely influenced by peers. During a diabetes summer school, we randomly assigned 21 IDDM patients to one of two groups. One group participated in daily social-learning exercises designed to improve social skills and the ability to resist peer influence. The second group spent an equal amount of time learning medical facts about diabetes care. Four months after the intervention, hemoglobin A1 was significantly lower in the social skills intervention group. A variety of variables were significantly correlated with good metabolic control. These included self-reported compliance with a diabetes regimen and attitudes toward self-care. Unexpectedly, variables correlated with poor diabetes control included social problem-solving ability and satisfaction with social support.

A new mechanical method to influence pulmonary perfusion in critically ill patients.

A new device, the Roto-Rest bed, has been used in critically ill patients to effect lateral to lateral position changes and continuous rotation to influence distribution of pulmonary blood flow. Selection of extreme lateral position can be made particularly in cases of respiratory failure with primarily unilateral involvement. Dependent positioning of the uninvolved lung to match ventilation and perfusion can be accomplished simply. Rapid resolution of a large pulmonary contusion serves to illustrate the clinical use of the apparatus.