Comorbid Psychiatric Aspects of Bainbridge-Ropers Syndrome.

Objective: Bainbridge-Ropers syndrome (BRPS) is a neurodevelopmental genetic disorder associated with mutations in the additional sex combs-like ASXL3 gene on chromosome 18q12.1. The objective of this study is to describe the comorbid psychiatric aspects of BRPS.Methods: A retrospective review was conducted of the electronic medical records of patients diagnosed with BRPS from 2013 to 2020 at an academic medical center. Results were deidentified and presented as frequencies and percentages.Results: Seven cases (5 White males and 2 White females) of BRPS were identified. The mean age at the time of referral was 12 years, while the mean age at diagnosis of BRPS was 7 years. Comorbid psychiatric symptoms and diagnoses associated with BRPS included global developmental delay: 6 (86%), sleep impairment: 5 (71%), autism spectrum disorder: 3 (43%), speech impairment: 2 (29%), disruptive behavior: 4 (57%), attention-deficit/hyperactivity disorder: 3 (43%), self-injurious behavior: 3 (43%), aggression: 4 (57%), and seizures: 3 (43%). All 7 patients (100%) had multiple DSM-5 diagnoses.Conclusions: These data highlight the need for awareness of the psychiatric comorbidity of BRPS. The findings also underscore the need for further research and emphasize the importance of multidisciplinary collaboration in the prompt assessment, diagnosis, and management of patients presenting with BRPS.

A New Method of Eliciting Pyramidal Tract Impairment in Adults.

BACKGROUND: To suggest a new way of eliciting pyramidal tract dysfunction in adults since the most widely utilized plantar reflex, which is the Babinski reflex, has limitations with different reliability and consistency among different examiners. MATERIALS AND METHODS: 168 adult subjects were examined for the new sign in addition. It consists of just an observation of the patient's feet and toes in a conscious patient looking for the extension of the great toe along with fanning, spreading and plantar flexion of the small toes either at rest or when patient elevates one leg up at a time. RESULTS: We were able to observe the extension of the great toe along with fanning, spreading and plantar flexion of the small toes in patients with impairment of pyramidal tract. The specificity was 94% while the sensitivity was 96%. CONCLUSION: Pyramidal tract lesion in adults can be elicited by this new test that observes the extension of the great toe along with fanning, spreading and plantar flexion of the small toes in patients. We suggest this sign as a complement to established signs like Babinski reflex.

Prevalence and clinical characteristics of body dysmorphic disorder in adolescent inpatient psychiatric patients-a pilot study.

Background: Body dysmorphic disorder (BDD) is preoccupation with perceived body defects leading to distress and impairment in social functioning. Most of adolescent BDD literature has been done on patients within the outpatient setting with prior versions of DSM with dearth of information about BDD and comorbid psychiatric conditions among adolescents within the inpatient setting. Aims: This pilot study evaluated the prevalence rate, clinical characteristics in adolescent BDD compared to non-BDD adolescents in a psychiatric in patient setting in addition to their comorbid issues like anxiety, OCD, ADHD and substance abuse. Methods: Forty-five consecutively admitted adolescent patients participated with 17 meeting the DSM 5 criteria for BDD while 28 did not. Patients were asked four questions designed around the DSM-5 criteria for BDD after which they were asked to complete questionnaires like BDDQ child and adolescent version, BDDM, Multiaxial Anxiety Scale for Children, Children's Depression Inventory, Y-BOCS and Vanderbilt ADHD rating scales. Results: Seventeen participants had BDD. Mean age of BDD patients was 13.1 while non-BDD was 12.4. Male patients with BDD were seven (41%) while female BDD patients were 10 (58.8%). Anxiety, depression, OCD and substance use disorders were common comorbid diagnoses. Majority of patients in the BDD group classified their BDD as a severe problem with more BDD, patient's considering suicide because of their BDD. Discussion: BDD is present in adolescents admitted in inpatient psychiatric hospital with more female patients endorsing BDD versus their male counterparts. Patients with BDD are more likely to endorse more comorbid psychiatric issues such as anxiety, OCD, ADHD and substance abuse.

Evaluation of the Body Parts That Preoccupy Adolescents With Body Dysmorphic Disorder.

OBJECTIVE: To evaluate which body parts preoccupy adolescents with body dysmorphic disorder (BDD). METHODS: Patients admitted to an inpatient psychiatric hospital who agreed to take part in the study completed the Body Dysmorphic Disorder Questionnaire (child and adolescent version) and Body Dysmorphic Disorder Diagnostic Module. Patients also completed a questionnaire that addressed age at onset, coping strategies, history of sexual abuse, amount of time patients spent thinking about their perceived defects, and the area of the body that the participants were preoccupied with and the specific coping strategy used. All patients met DSM-5 criteria for BDD. The study was conducted from January 17, 2014, to September 29, 2014. RESULTS: Patients with BDD (N = 17) were preoccupied with the face: 6 (35.2%), skin: 3 (17.6%), lips: 5 (29.4%), nose: 3 (17.6%), teeth: 3 (17.6%), ears: 1 (5.8%), and eyes: 1 (5.8%), while gender-specific parts included breasts: 5 (50%) and penis: 4 (57.1%). The mean age at onset of BDD was 10.5 years, and the time spent thinking about the imagined defect averaged 3.5 hours per day. CONCLUSIONS: Patients with BDD are more preoccupied with exposed facial body parts such as skin, lips, nose, teeth, ears, and eyes and body parts with sexual connotations such as breasts in females and the penis in males.

Irreversible Electroporation: Defining the MRI Appearance of the Ablation Zone With Histopathologic Correlation in a Porcine Liver Model.

OBJECTIVE: The purpose of this study is to evaluate the MRI appearance of the irreversible electroporation zone in porcine liver, with histopathologic correlation. MATERIALS AND METHODS: Nine irreversible electroporation ablations were percutaneously created in two Yorkshire pigs. Irreversible electroporation was performed with a bipolar 16-gauge electrode with 3-cm exposure tip and fixed 8-mm interpolar distance. Gadoxetate disodium-enhanced 3-T MRI was performed 50 hours after irreversible electroporation. Livers were harvested immediately after MRI for histopathologic analysis. Ablation zone size was measured on each pulse sequence and correlated with pathologic ablation zone size. Qualitative MRI features of the ablation zone were assessed, and contrast-to-noise ratios (CNRs) were calculated. Statistical analysis included Pearson correlation and t tests. RESULTS: Histopathologically, three distinct layers were present in the irreversible electroporation ablation zone: an inner layer of coagulative necrosis (hyperintense at T1- and T2-weighted imaging and nonenhancing), a middle layer of congestion and hemorrhage (hypointense at T1-weighted imaging, hyperintense at T2-weighted imaging and DWI, and progressively enhancing but hypointense at the hepatobiliary phase), and a peripheral layer of inflammation (hyperintense at the arterial phase but isointense at all other sequences). The hepatobiliary phase ablation zone size showed the highest correlation with the pathologic ablation zone size (r = 0.973). This correlation was significant (p < 0.001). T2-weighted imaging had the highest lesion-to-normal tissue CNR. CONCLUSION: The irreversible electroporation ablation zone contains three distinct histopathologic zones, each with unique MRI features. T2-weighted imaging had the highest CNR, and the hepatobiliary phase had the strongest correlation with ablation zone size.

Use of Topiramate in Skin-Picking Disorder: A Pilot Study.

OBJECTIVE: Repetitive skin picking that culminates in skin lesions and excoriations has a fairly common prevalence and causes clinically significant distress. Myriads of agents have been used to treat the condition with no convincing results. METHODS: Ten patients (8 women and 2 men) with skin-picking disorder (per DSM-5 criteria) were enrolled in the study. The study was conducted from December 1, 2013, to December 29, 2014. The patients were treated with 12-week open-label topiramate in a titrating-upward dose (25-200 mg/d). Different measures to evaluate the efficacy of topiramate included subjective and objective assessment, photographs, the Skin Picking Scale modified after the Yale-Brown Obsessive-Compulsive Scale (SPS-Y-BOCS), the Skin Picking Impact Scale, the Clinical Global Impressions-Improvement (CGI-I) and CGI-Severity scales, and the Beck Anxiety Inventory and Beck Depression Inventory. RESULTS: Topiramate improved time spent skin picking from 85 minutes to 30 minutes per day. Seven patients (70%) were very much improved (n = 4) and much improved (n = 30) on the CGI-I. The scores on the Skin Picking Impact Scale and SPS-Y-BOCS also improved. The mean time to respond to topiramate was about 8 to 10 weeks. Anxiety and depression symptoms improved after reduction in skin-picking symptoms (the Beck Anxiety Inventory score improved from a mean of 38.8 to 13.8 and the Beck Depression Inventory score from 28.9 to 10.1). CONCLUSIONS: Topiramate appears to be a promising agent in the treatment of skin-picking symptoms. Double-blind controlled trials are needed to further evaluate the safety and efficacy of topiramate in larger population samples. TRIAL REGISTRATION: ISRCTN registry identifier: ISRCTN15791118.

Celery root extract as an inducer of mania induction in a patient on venlafaxine and St John's Wort.

Celery root belongs to a group of plants classified as the umbelliferous family, which contains phytoestrogens. Phytoestrogens are structurally similar to estrogen as they share a pair of hydroxyl groups and phenolic ring, which enables them to bind to estrogen receptors directly, making them a herbal remedy for low estrogen states such as menopause. We present a case of a female patient with depression who was stabilized on venlafaxine and St John's Wort, and who developed a manic episode due to elevated serum venlafaxine levels after she started taking celery extracts for menopausal related issues. We proffer a hypothesis for this unusual occurrence.

Autism Spectrum Disorder and Chiari 1 Malformation Co-occurring in a Child.

Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum disorder as biologically based neurodevelopmental disorder with altered brain growth may be associated with Chiari 1 malformation and ADHD.

Contrast Enhancement Patterns after Irreversible Electroporation: Experimental Study of CT Perfusion Correlated to Histopathology in Normal Porcine Liver.

PURPOSE: To analyze ablated tissue zones after irreversible electroporation (IRE) of porcine liver using computed tomography (CT) perfusion imaging with histopathologic correlation. MATERIALS AND METHODS: Under ultrasound and CT guidance, 10 IRE ablations were performed percutaneously in three Yorkshire pigs using a single bipolar electrode. CT perfusion imaging was performed in all pigs immediately after ablation and on day 2. Pathologic sections were prepared for correlation with histopathology (hematoxylin-eosin and terminal deoxynucleotidyl transferase dUTP nick end labeling stains, 5-mm-thick slices). The short diameter of different enhancing zones on CT was correlated with the gross specimen. RESULTS: CT perfusion images showed three differently enhancing zones: zone 1, inner nonenhancing zone; zone 2, middle well-defined progressive internal enhancement zone; and zone 3, outer ill-defined arterial enhancement zone with rapid washout. On histopathology, zone 1 showed a strong correlation with a pale zone, and zone 2 correlated with a red zone, together accounting for the extent of cell death. Zone 3 was outside of the ablation zone and contained inflammatory cells. Each enhancing zone had different perfusion parameters. CONCLUSIONS: CT perfusion imaging in the acute setting effectively demonstrates histopathologic tissue zones after IRE ablation. Zone 2 is unique to IRE not seen in thermal ablation, characterized by progressive intra-zonal enhancement, and its outer boundary defines the extent of cell death.

Delayed Facial Nerve Palsy after Seat Belt Induced Injury.

Blunt trauma causing facial nerve palsy and facial nerve trauma due to seat belt injury is rarely reported. We describe a 63 year old female who was involved in a road traffic accident without any imaging evidence of temporal bone fracture developing left facial nerve palsy on the second day. We discuss the pathophysiology of this condition and the need to be aware of this unusual complication when evaluating patient with blunt trauma to the face.