Rett Syndrome and Epilepsy: An Update for Child Neurologists

Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting as many as 50%-90% of patients. Seizures can often be refractory, requiring polytherapy and consideration of nonpharmacologic management (e.g., ketogenic diets and vagus nerve stimulation). In addition, many nonepileptic symptoms of Rett syndrome can occasionally be difficult to differentiate from seizures making clinical management and family counseling challenging. Our goal in this review is to better define the clinical and electrophysiological aspects of the epilepsy associated with Rett syndrome and provide practical guidance regarding management.     

Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures

Two siblings with a similar white-matter disease but different clinical symptoms are described. The first sibling suffers from nonprogressive spastic hemiparesis secondary to a congenital periventricular porencephalic cyst. Her brother has focal epilepsy. On magnetic resonance imaging, both patients show diffuse white-matter involvement predominantly of the posterior periventricular area. We suggest that this is a familial white-matter disorder with minimal symptoms and no progression in early childhood.     

Drug interaction as a predictor of direct oral anticoagulant drug levels in atrial fibrillation patients

Data are limited on the effects of drug interactions on direct-acting oral anticoagulant (DOAC) levels. We evaluated the effects of the use of interacting drugs on DOAC levels in patients with atrial fibrillation (AF). We reviewed data of AF patients tested for DOAC levels in 2013–2017. The primary outcomes were drug levels exceeding the expected steady-state range, and in the highest quartile. A multivariate analysis was performed to evaluate the correlation of treatment by the use of interacting drugs, CYP3A4 and P-glycoprotein (P-gp) inhibitors, with the primary outcomes. Overall, 147 patients underwent DOAC level measurement [dabigatran (n?=?31), rivaroxaban (n?=?29), apixaban (n?=?87)]. Thirty-three (22.4%) had drug levels exceeding the expected range. Seventy-nine (53.7%) patients were treated with at least one interacting drug. In multivariate analysis, the concomitant use of interacting drugs was an independent predictor for drug levels exceeding the expected range (OR 3.3, 95% CI 1.20–9.05). The defined daily dose of the interacting drug correlated positively with DOAC levels (r?=?0.29, P?=?0.001). Co-treatment with interacting drugs was associated with extremely high levels of dabigatran, (OR 16.6, 95% CI 1.29–215.18) but not of the other DOAC examined. Concomitant use of interacting drugs is associated with high DOAC levels in patients with AF. Further investigation is warranted to establish the differences between specific DOAC, evaluate the effect on patient outcomes, and characterize the role of DOAC monitoring in this setting.     

Chapter 1. Introduction

Background

In December 2007, the European Society of Intensive Care Medicine established a Task Force to develop standard operating procedures (SOPs) for operating intensive care units (ICU) during an influenza epidemic or mass disaster.

Purpose

To provide direction for health care professionals in the preparation and management of emergency ICU situations during an influenza epidemic or mass disaster, standardize activities, and promote coordination and communication among the medical teams.

Methods

Based on a literature review and contributions of content experts, a list of essential categories for managing emergency situations in the ICU were identified. Based on three cycles of a modified Delphi process, consensus was achieved regarding the categories. A primary author along with an expert group drafted SOPs for each category.

Results

Based on the Delphi cycles, the following key topics were found to be important for emergency preparedness: triage, infrastructure, essential equipment, manpower, protection of staff and patients, medical procedures, hospital policy, coordination and collaboration with interface units, registration and reporting, administrative policies and education.

Conclusions

The draft SOPs serve as benchmarks for emergency preparedness and response of ICUs to emergencies or outbreak of pandemics.

     

The common prothrombotic factors in nulliparous women do not compromise blood flow in the feto-maternal circulation and are not associated with preeclampsia or intrauterine growth restriction

OBJECTIVE: In this study we evaluated the associations between common prothrombotic factors and increased blood flow resistance in the feto-maternal circulation, intrauterine growth restriction, small for gestational age, or preeclampsia. STUDY DESIGN: A prospective study was conducted in healthy nulliparous women with spontaneous singleton pregnancy. Blood was tested for the common prothrombotic factors, i.e., factor V Leiden, factor II G20210A, methylenetetrahydrofolate reductase C677T, anticardiolipin, and lupus anticoagulant. Blood flow resistance in the uterine, placental, and umbilical arteries were assessed by multigate Doppler and compared between women with and without prothrombotic factors. The maternal, fetal, and neonatal clinical courses were also compared among these subgroups. RESULTS: Prothrombotic factors were detected in 191 of 637 (30%) subjects. No significant difference in resistance to blood flow in the feto-maternal unit was discernible between women with and without prothrombotic factors. Pregnancy-induced hypertension or preeclampsia occurred in 10 of 191 (5.2%) and in 19 of 446 (4.3%) of women with and without a prothrombotic factor respectively ( P = .59). Intrauterine growth restriction was detected at 31 weeks in 13 of 164 (7.9%) and in 42 of 377 (11.1%) fetuses of women with and without a prothrombotic factor ( P = .26), and small for gestational age at delivery was observed in 19 of 187 (10.2%) and in 41 of 413 (9.9%) of mothers with and without prothrombotic markers, respectively. CONCLUSION: The presence of prothrombotic factors in healthy nulliparous women does not compromise blood flow in the feto-maternal unit, nor is it associated with preeclampsia, intrauterine growth restriction, or small for gestational age .     

Role of color Doppler imaging in diagnosing and managing pregnancies complicated by placental chorioangioma

PURPOSE: The purpose of this study was to evaluate the role of color Doppler imaging in the diagnosis and management of placental chorioangioma. METHODS: The medical records, sonographic reports, and sonograms of all pregnant women who had placental masses diagnosed in our sonography unit during the years 1992 through 2000 and had been evaluated using both gray-scale and color Doppler sonography were included in this study. Subjective evaluation of the amount and distribution of intralesional vascularity by color Doppler imaging was made in all cases. Cases of chorioangioma of the placenta were compared with cases of placental hemorrhage or subchorionic hematoma. The outcomes of the pregnancies were also recorded. RESULTS: Fifteen cases of placental masses were evaluated; 8 of them were identified as placental hemorrhage or subchorionic hematoma on the basis of the sonographic findings. The other 7 cases were identified prenatally as placental chorioangioma, at a mean menstrual age of 23 weeks and a mean maternal age of 29 years. The mean size of the tumor was 6.5 cm (range, 4-13 cm). All cases of chorioangioma showed either substantial internal vascularity or a large feeding vessel within the tumor. Three infants were delivered at term with favorable outcome; 2 of them demonstrated reduction of the intratumoral blood flow during follow-up. The other 4 cases were delivered at or before 32 weeks' menstrual age (1 intrauterine fetal death, 2 terminated pregnancies, and 1 normal infant). No case of placental hematoma demonstrated blood flow within the lesion or was associated with complications of the pregnancy. CONCLUSIONS: Color Doppler imaging helps differentiate placental chorioangioma from other placental lesions and may be useful in the prenatal follow-up of chorioangioma.     

Sensitivity and specificity of seizure-onset zone estimation by ictal magnetoencephalography

Purpose: Ictal video–electroencephalography (EEG) is commonly used to establish ictal onset‐zone location. Recently software development has enabled systematic studies of ictal magnetoencephalography (MEG). In this article, we evaluate the ability of ictal MEG signals to localize the seizure‐onset zone. Methods: Twenty‐six patients underwent ictal MEG and epilepsy surgery. Prediction of seizure‐onset zone by ictal and interictal MEG was retrospectively compared with ictal‐onset area found by intracranial EEG in 12 patients. The specificity and sensitivity of the prediction were calculated at hemisphere‐lobe (HL) and at hemisphere‐lobe‐surface (HLS) levels. Key Findings: The sensitivity of ictal MEG source localization was 0.958 on HL and 0.706 on HLS levels, and its specificity was 0.900 on HL and 0.731 on HLS levels. The interictal MEG dipole cluster, defined as >10 dipoles on one lobar surface, had sensitivity of 0.400 and specificity of 0.769. Ictal MEG was equally sensitive and specific on dorsolateral and nondorsolateral neocortical surfaces up to a depth of 4 cm from the scalp. Significance: Sources of ictal‐onset MEG signals and interictal dipole clusters are essentially equally specific in estimation of the ictal‐onset zone on lobar surface resolution, but ictal MEG is more sensitive. On the lobe resolution, ictal MEG estimates ictal‐onset zone with high sensitivity and specificity.     

Management strategies of the interaction between direct oral anticoagulant and drug-metabolizing enzyme inducers

Journal of Thrombosis and Thrombolysis - Little is known regarding the management of direct oral anticoagulants (DOACs) in patients with enzyme-inducing drugs (EID). The use of EID may lead to...     

The effect of humorous movies on inpatients with chronic schizophrenia

We assessed the impact of humorous movies on psychopathology, anxiety, depression, anger, social functioning, insight, and therapeutic alliance in schizophrenia inpatients. Twenty-nine psychiatric inpatients in open wards participated in the study. The study group viewed humorous and the control group viewed neutral movies daily for 3 months. Participants were assessed before and after viewing movies with the Positive and Negative Symptom Scale, Calgary Depression Scale, the State-Trait Anxiety Inventory, the State-Trait Anger Expression Inventory-2, the Multinomah Community Ability Scale, the Insight and Treatment Attitude Questionnaire, and the Working Alliance Inventory. Reduced levels of psychopathology, anger, anxiety, and depression symptoms and an improvement in social competence were revealed in the study group. No changes were observed in treatment insight or working alliance. Video films are a practical and cost-efficient means of entertainment that seem to have a positive effect on patient morale, mood, and mental status.