Virtual twins for model-informed precision dosing of clozapine in patients with treatment-resistant schizophrenia.

Model-informed precision dosing using virtual twins (MIPD-VTs) is an emerging strategy to predict target drug concentrations in clinical practice. Using a high virtualization MIPD-VT approach (Simcyp version 21), we predicted the steady-state clozapine concentration and clozapine dosage range to achieve a target concentration of 350 to 600 ng/mL in hospitalized patients with treatment-resistant schizophrenia (N = 11). We confirmed that high virtualization MIPD-VT can reasonably predict clozapine concentrations in individual patients with a coefficient of determination (R ) ranging between 0.

Deep Brain Stimulator (DBS) Artifact in the EEG of a Pediatric Patient.

We report the first case of deep brain stimulator (DBS) artifact in the EEG of a pediatric patient. Our case is a 7-year-old male with bilateral globus pallidus interna (GPi) DBS for whom the EEG recorded a rhythmic 7.5 Hz theta activity on EEG related to DBS artifact.

Patient Pain and Satisfaction With 10, 30, and 70 mL Transcervical Foley Balloons for Cervical Ripening During Induction of Labor.

Objective To assess patient pain and satisfaction and time to delivery following transcervical Foley catheter balloon inflation to 10, 30, or 70 mL with simultaneous administration of oxytocin. Methods We performed a randomized prospective study with 30 or 70 mL transcervical Foley balloon catheters in combination with oxytocin during labor induction at term. A 10 mL group was included as a sham control group.

A 1p31.3 deletion encompassing the nuclear factor 1A gene presenting as possible temporal lobe epilepsy in association with schizoaffective disorder.

Chromosome 1p32-p31 deletion syndrome, which is characterized by a variety of neurodevelopmental abnormalities, is thought to occur as a result of nuclear factor 1A () haploinsufficiency. We present a case of a right-handed 40-year-old female with a 1p31.3 deletion, who exhibited numerous common features of this syndrome, in addition to treatment resistant schizoaffective disorder and possible temporal lobe epilepsy, making her presentation unique.

Subjective cognitive functioning, depressive symptoms, and objective cognitive functioning in people with treatment-resistant psychosis.

Relationships between subjective cognitive functioning (SCF), objective cognitive functioning (OCF), and depressive symptoms are poorly understood in treatment-resistant psychosis (TRP). This study (a) compares SCF in TRP using positively and negatively worded scales, (b) assess these scales' accuracy, and (c) explores the association between these scales and depressive symptoms. We hypothesised that both SCF scales would be highly correlated, minimally associated with OCF, and similarly associated with depressive symptoms.

Whole-genome sequencing analysis of clozapine-induced myocarditis.

One of the concerns limiting the use of clozapine in schizophrenia treatment is the risk of rare but potentially fatal myocarditis. Our previous genome-wide association study and human leucocyte antigen analyses identified putative loci associated with clozapine-induced myocarditis. However, the contribution of DNA variation in cytochrome P450 genes, copy number variants and rare deleterious variants have not been investigated.

Sleep Abnormalities in the Synaptopathies--Related Intellectual Disability and Phelan-McDermid Syndrome.

Neurodevelopmental disorders are frequently associated with sleep disturbances. One class of neurodevelopmental disorders, the genetic synaptopathies, is caused by mutations in genes encoding proteins found at the synapse. Mutations in these genes cause derangement of synapse development and function.

A novel description of converting a gastric plication to sleeve gastrectomy for weight loss: A case report.

Introduction: Bariatric surgery is a rapidly growing field with trends and standards of care changing more rapidly than most. Gastric plication was once an exciting novel procedure which showed promise, however it has fallen out of favor for other procedures such as the sleeve gastrectomy. Existing literature on the surgical conversion of a gastric plication to a sleeve gastrectomy does not provide specific details on the operative technique of this rarely encountered operation.

Polysomnographic predictors of abnormal brainstem imaging in children.

Study Objectives: Evaluation of elevated central apnea-hypopnea index (CAHI) or prolonged central apneas in pediatric patients typically includes neuroimaging with a focus on brainstem pathology. There is little evidence guiding thresholds of polysomnographic variables that accurately predict abnormal neuroimaging. We sought to evaluate whether additional polysomnographic variables may help predict brainstem pathology.

First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes.

In 2019, we confirmed that the haploinsufficiency of CHD8 does indeed cause the novel syndromic neurodevelopmental disease we first discovered a dozen years before. Here, we report the first whole transcriptome RNAseq gene expression profiling for a patient with this new syndrome, as a preliminary exploration of potential pathophysiological mechanisms. We compared our patient transcriptome profile with that of all publicly available RNAseq datasets from human cellular models including neuronal progenitor cells, neurons and organoids.

Review and Consensus on Pharmacogenomic Testing in Psychiatry.

The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes ().

Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome.

The 3q29 deletion is a rare copy number variant associated with neurodevelopmental and psychiatric disorders, including a >40-fold increased risk for schizophrenia. Current understanding of the clinical phenotype is derived primarily from published cases of patients in childhood or early adolescence. Symptoms include mild to moderate learning disability, developmental delay, facial dysmorphism, microcephaly, ocular disorders, and gastrointestinal abnormalities.

Pulmonary hypertension and chronic hypoventilation in ROHHAD syndrome treated with average-volume assured pressure support.

Introduction: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is an exceptionally rare clinical entity with significant morbidity and high mortality with challenging-to-treat hypoventilation.

Case Presentation: An 11-year-old morbidly obese Chinese female presented with a putative diagnosis of ROHHAD associated with a left psoas ganglioneuroma. Initial polysomnography showed severe obstructive sleep apnea and hypoventilation.

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.

Psychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs.

Metastatic Brain Choriocarcinoma in a Postmenopausal Woman: A Case Report.

BACKGROUND Choriocarcinoma is the most aggressive form of gestational trophoblastic disease and usually occurs in women of childbearing age, most commonly within 1 year after an abnormal pregnancy. Postmenopausal choriocarcinoma is exceptionally rare and few cases have been described in the literature. CASE REPORT We present the case of a 66-year-old woman who presented to the Emergency Department with sudden onset of left upper- and lower-extremity weakness.

Preliminary examination of the validity of the NIH toolbox cognition battery in treatment-resistant psychosis.

Prior research has suggested that treatment-resistant psychosis (TRP) may be a categorically distinct subtype from treatment-responsive psychotic disorders. However, relatively few studies have investigated the cognitive profile of individuals with TRP. Moreover, no prior studies have investigated the effectiveness of using the NIH Toolbox Cognition Battery (NTCB) for assessing cognition among psychiatric inpatients despite its promising efficiency and practicality in such settings.

Pediatric polysomnography-A review of indications, technical aspects, and interpretation.

Polysomnography is an elaborate diagnostic test composed of numerous data-collecting sensors working concomitantly to aid in the evaluation of varied sleep disorders in all age groups. Polysomnography is the study of choice for the assessment of pediatric sleep-disordered breathing, including obstructive sleep apnea syndrome, central apnea, and hypoventilation disorders, and is used to help determine treatment efficacy. Beyond the purview of snoring and breathing pauses, polysomnography can elucidate the etiology of hypersomnolence, when associated with a multiple sleep latency test, and abnormal movements or events, whether nocturnal seizure or complex parasomnia, when a thorough patient history cannot provide clear answers.

Acute Drug-Induced Symptoms of Restless Legs Syndrome in an Emergency Department: What's in a Name?

Stowe RC. Acute drug-induced symptoms of restless legs syndrome in an emergency department: what's in a name? J Clin Sleep Med. 2019;15(9):1381.

Early Identification of Pediatric Neurology Patients With Palliative Care Needs: A Pilot Study.

Palliative care services are beneficial for pediatric neurology patients with chronic, life-limiting illnesses. However, timely referral to palliative care may be impeded due to an inability to identify appropriate patients. The aim of this pilot case-control study was to test a quantitative measure for identifying patients with unmet palliative care needs to facilitate appropriate referrals.

Global Health Education in Child Neurology and Neurodevelopmental Disabilities Training Programs in the United States: A National Survey.

Objectives: To describe the current landscape of opportunities and education in global health among child neurology and neurodevelopmental disabilities training programs and provide a framework for future development of global health education.

Methods: Authors surveyed Trainee and Program Director groups, obtaining information regarding global health interest, participation and obstacles (trainees); and collaborations in global health, academic yield and obstacles, and global health educational development within the training program (program directors).

Results: Of identified trainees and program directors, 35% and 48% responded, respectively.

Electroencephalographic Patterns During Routine Polysomnography in Childhood and Association With Future Epilepsy Diagnosis.

Study Objectives: Evaluate the frequency of abnormal electroencephalograph (EEG) records during pediatric polysomnography (PSG) at a tertiary referral center and determine frequency with which these records may predict future seizures and a diagnosis of epilepsy.

Methods: Retrospective review of all pediatric PSG reports from 2013 was performed. Demographics, medical history, indications, diagnoses, and EEG reports were collected.