bluuebunny/crossref_metadata_2025_split huggingface dataset:
101 Amyotrophic Lateral Sclerosis (ALS) - Not Just a Motor Disease? Isolated Bitter and Sweet Taste Loss in ALS
Authors: Ashary Ahmed A , Patel Dev N , Hirsch Alan R 
Published: April 2020

Abstract:Study Objective:Specific taste quality deficits in ALS has not heretofore been described.METHOD:Case Study: A 71 year old right handed female presented with a two year course of progressive reduction in strength in her hands, arms and legs with difficulty tying shoe laces, opening jars, writing and walking. She described nocturnal muscle spasms involving all extremities. Gradually, over eight months prior to presentation, all food began to taste bad and horribly bitter. Associated with no appetite and a seven pounds weight loss.RESULTS:Abnormalities in Neurological examination: Cranial Nerve (CN) examination: CN IX and X: Gag absent bilaterally. Motor examination: Bulk: atrophy in thenar and hypothenar eminences and intrinsics in both upper extremities. Percussion induced fasciculation and myotonia in both shoulders and arms. Fasciculation of tongue with percussion myotonia of tongue. Strength: Intrinsic 4/5 in both upper extremities, 3/5 in abductor policis brevis bilaterally, 3/5 right gastrocnemius soleus, 4/5 bilateral anterior tibialis. Drift testing: left abductor digiti minimi sign. Gait: Heel and toe walking unstable with circumduction of left leg. Tandem gait unstable. Cerebellar: Holmes rebound phenomena positive in the left upper extremity. Deep tendon reflexes: 1+ left brachioradialis. 1+ left triceps. 3+ right ankle jerks. 0 left ankle jerk. Positive jaw jerk. Chemosensory Testing: Normosmia to: Alcohol Sniff Test (46), Pocket Smell Test (3/3) and Retronasal Smell Index (9). Taste Quadrant Testing: ageusia in the palate to sodium chloride and citric acid. Ageusia throughout the palate, tongue and whole mouth to sucrose and quinine hydrochloride. Fungiform papillae count: left 18, right 20 (normal). Lip biopsy (normal). MRI: T2 flair in bilateral corticospinal tracts, left greater than right in the spinal cord and the brain. EMG: fibrillation, positive waves with fasciculation in all four extremities. Voluntary contraction with polyphasic unstable motor unit action potentials.CONCLUSION:While Lang found no taste loss in ALS (Lang, 2011), Pelletier found reduction in intensity of taste to all modalities in different sectors of the tongue, but paradoxically demonstrated normogeusia in whole mouth taste perception (Pelletier, 2013). Pathological specimens of those with ALS revealed degeneration in the nucleus parabrachialis medialis and tractus trigeminothalamicus dorsalis (Oyanagi, 2015), suggesting that taste deficit may be due to central white matter abnormalities. Sweet taste is localized in the most posterior and rostral aspect of the right insular cortex, immediately adjacent to bitter (Prinster, 2017), suggesting a neighborhood effect phenomena. Weight loss in ALS may be due to sensory distortion and secondary impairment of appetite. It would be worthwhile to investigate those with ALS for evidence of otherwise overlooked gustatory deficits, correction of which may improve appetite and nutritional state.
103 Atypical Progressive Bulbar Palsy presenting with Dropped Head
Authors: Carvajal-González Alexander , Iglesias Antonio H 
Published: April 2020

Abstract:Introduction:Typical amyotrophic lateral sclerosis (ALS) presents on neurological examination with specific signs of upper and lower motor neuron degeneration (Brooks et al, 1995), which can account for 85% of patients with ALS (Turner and Talbot, 2013). There are different types of clinical presentations, including progressive bulbar palsy (PBP), Limb-onset ALS, progressive muscular atrophy (PMA) and upper motor neuron (UMN) predominant ALS. PBP has mainly brainstem signs. There are a few case reports of dropped head syndrome in ALS, mainly in patients with the limb involvement variant.Methods:Case reportResults:A 56 year old right-handed male, presented to the clinic with four months of dysphagia to liquids and solids, neck pain and progressive neck weakness causing constant drop head. No dysarthria or other neurological symptoms, no dyspnea. Neurological examination: Cranial Nerve (CN) CN XII: Nasal voice, bilateral atrophy of the tongue with tremor and fasciculations. Motor: Diffuse atrophy and decreased tone of the sternocleidomastoid and trapezii bilaterally, strength: 2/5 in neck flexors and extensors. Sensory: Hypoesthesia of the tongue. The rest of his neurological examination was normal. Labs: Routine blood work, thyroid function tests, collagen vascular work-up, and protein electrophoresis were normal. Creatine Phosphokinase (CPK) and Acetylcholine Receptor Antibodies (AChR Ab) were negative. Brain and Spinal Cord MRI: Showed mild brainstem, cerebellar and cervical spinal atrophy.Conclusions:Patients with ALS initially present with symptoms localized to the limbs or bulbar muscles. A very small percentage 1-2% of ALS patients had neck muscle weakness with head drop (Jokelainen et al, 1977; Gourie-Devi et al, 2003). However, in all the previously reported cases, the patients had limb involvement at the time of presentation which was absent in this case, and the head drop occurred after the onset of symptoms (Lange et al, 1986; Katz et al; 1996). Dropped head syndrome can be seen in inflammatory myopathies, myasthenia gravis, facioscapulohumeral muscular dystrophy, spinal muscular atrophy, nemaline myopathy and carnitine deficiency (Umapathy et al, 2003) but ALS should also be considered in patients with atypical presentations.
117 Impact of Antipsychotic Treatment Switching in Patients with Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
Authors: Ayyagari Rajeev , Thomason Darren , Mu Fan , Philbin Michael , Carroll Benjamin 
Published: April 2020

Abstract:Study Objective:To evaluate the risk of relapse for patients with schizophrenia (SZ), bipolar disorder (BP), and major depressive disorder (MDD) who switched antipsychotics compared with those who did not switch.Background:Antipsychotics are commonly used for maintenance treatment of SZ, BP, and MDD but can have significant side effects, such as extrapyramidal symptoms (EPS). Adherence to treatment is important for reducing the risk of relapse, but fear of side effects may prompt medication switching.Methods:Medicaid claims from 6 US states spanning 6 years were retrospectively analyzed for antipsychotic switching versus non-switching. For all patients with SZ, BD or MDD and for the subset of patients who also had ≥1 EPS diagnosis during the baseline period, times to the following outcomes, during a 2-year study period were analyzed: underlying disease relapse, psychiatric relapse, all-cause emergency room (ER) visit, all-cause inpatient (IP) admission and EPS diagnosis.Results:Switchers (N=10,548) had a shorter time to disease relapse, other psychiatric relapse, IP admissions, ER visits, and EPS diagnosis (all, log-rank P<0.001) than non-switchers (N=31,644). Switchers reached the median for IP admission (21.50 months) vs non-switchers (not reached) and for ER visits (switchers, 9.07 months; non-switchers, 13.35 months). For disease relapse, other psychiatric relapse, and EPS diagnosis, <50% of patients had an event during the 2-year study period. Comparisons in a subgroup of patients with ≥1 EPS diagnosis revealed similar outcomes.Conclusions:These results show that disease and other psychiatric relapse, all-cause ER visits, IP admissions, and EPS diagnosis occurred earlier for switchers than for non-switchers, suggesting that switching is associated with an increased risk of relapse in patients with SZ, BP and MDD.Funding Acknowledgements:This study was supported by Teva Pharmaceuticals, Petach Tikva, Israel.
133 Toxic Psychosis: Follow-up After One Year of Treatment
Authors: Oriaifo Glen 
Published: April 2020

Abstract:Introduction:Anti-NMDA (N-methyl-D-aspartate) receptor encephalitis often presents itself in psychiatric settings as first-break psychosis. I present a case of a 31-year-old female who returned to the clinic one year after being treated for NMDA receptor antibody encephalitis.CASE REPORT:Ms. C is a 31 y/o female who returned to the clinic after one year of being discharged from the hospital for NMDA-receptor encephalitis with positive serological NR1 antibodies. She was initially admitted to our inpatient psychiatric facility for an unspecified psychotic disorder complicated with seizure-like episodes. She was given various psychotropic medications without any improvement. She was moderately responsive to olanzapine and lorazepam. Her condition gradually worsened; she stopped communicating and became mute. Neurology consultation prompted work-up for encephalitis and the probable diagnosis of NMDA receptor encephalitis. She was subsequently treated with steroids, IVIG and then intrathecal rituximab and bortezomib. In addition to these aforementioned medications, she underwent a prophylactic oophorectomy and 10 ECT treatments for life threatening catatonia. After three weeks of this regimen, Ms. C recovered completely and was discharged home.DISCUSSION:This case adds to literature that suggests prompt diagnosis and management of NMDA receptor encephalitis significantly improves prognosis. Treatment should be initiated if the patient meets probable diagnostic criteria for NMDA receptor encephalitis. Similar to other cases in the literature, our patient’s symptom of catatonia improved with ECT administration. During Ms. C one year follow-up, no evidence of psychotic symptoms were appreciated. Family members reported that she had returned to her baseline cognitive function.
137 CME on Pharmacogenomics Testing Improves Knowledge, Competence, and Confidence Related to Implementing Testing in Practice
Authors: Lucero Katie S. , Chatterjee-Shin Piyali , Dermer Shari J. 
Published: April 2020

Abstract:Study Objective(s):Pharmacogenomics (PGx) testing, in particular combinatorial PGx testing, represents a potential means for delivering personalized treatment selection for patients with psychiatric disorders. The goal of this educational intervention was to educate clinicians about the role of PGx testing in neuropsychiatric conditions such as MDD, how these novel tests may be implemented into clinical practice, and how results may be used to inform decision-making.Method:Psychiatrists (n=830) participated in an online enduring CME activity on PGx testing in psychiatric disorders •The format was a 30-minute 2-person discussion (launched December 7, 2018)•Data from this activity were collected for 30 days after launch•Effectiveness of education for the CME activities was analyzed using 3 multiple-choice and 1 self-efficacy question (5-point Likert-type scale), presented as pre-/post-CME repeated pairs•A paired samples t-test was conducted to examine improvements in mean confidence pre and postParticipant knowledge, competence, and confidence change in pre- to post-CME responses were calculatedResults:Overall, 72% of psychiatrists (n=830) had knowledge or competence that was reinforced or improved as a result of education.Following education:*56% and 12% of psychiatrists had reinforcement and improvement, respectively, in knowledge related to the clinical benefits of PGx-guided treatment strategies•61% and 8% of psychiatrists had reinforcement and improvement, respectively, in competence related to interpreting PGx tests for patients with neuropsychiatric disorders•Within the group of psychiatrists with reinforced and improved knowledge/competence, there was a 30% increase in their confidence using PGx tests to help guide treatment decisions for patients with major depressive disorder (MDD) (M pre=2.14, post=2.77, scale 1 to 5)•Confidence in the use of PGx testing was correlated with likelihood of considering PGx testing for patients with MDDConclusions:Online CME aided in psychiatrists’ knowledge, competence, and confidence in using pharmacogenomics testing in patients with psychiatric disorders.Funding Acknowledgements:Supported by an independent educational grant from Myriad Neuroscience, formerly Assurex Health
152 Development of Deutetrabenazine as a Potential New Non-Antipsychotic Treatment for Tourette Syndrome in Children and Adolescents
Authors: Jankovic Joseph , Coffey Barbara , Claassen Daniel O. , Stamler David , Gertz Barry J. , Garofalo Elisabeth A. , Wieman Maria , Gordon Mark Forrest , Savola Juha-Matti 
Published: April 2020

Abstract:Background:Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the hyperkinetic movements of motor and phonic tics manifested in young age. Currently approved treatments in the United States are antipsychotics: haloperidol, pimozide, and aripiprazole, which are associated with serious side effects, including tardive dyskinesia (TD). Deutetrabenazine, a vesicular monoamine transporter type 2 (VMAT2) inhibitor, was approved in 2017 by the US FDA for the treatment of chorea associated with Huntington’s disease and TD. Three ongoing studies (Alternatives for Reducing Tics in TS [ARTISTS]) are evaluating the efficacy, safety, and tolerability of deutetrabenazine in reducing tics in TS in children and adolescents (age 6-16 years).Methods:ARTISTS 1, a phase 2/3, response-driven, dose-titration, placebo-controlled study, randomizes patients (N=116) 1:1 to deutetrabenazine or placebo for 12 weeks. ARTISTS 2, a phase 3, fixed-dose study, randomizes patients (N=150) 1:1:1 to deutetrabenazine high or low dose, or placebo for 8 weeks. The primary efficacy outcome in these pivotal studies is change from baseline to end of treatment in the Total Tic Score (TTS) of the Yale Global Tic Severity Scale (YGTSS). Additional efficacy endpoints and safety/tolerability are also evaluated. ARTISTS is a 56-week, open-label, single-arm, long-term safety/tolerability study in patients who have successfully completed either ARTISTS 1 or ARTISTS 2.Results:Not available yet.Conclusion:TS can have potentially long-term life impact, and there remains unmet medical need for effective and well-tolerated treatments. Three ARTISTS studies will evaluate the efficacy, safety, and tolerability of deutetrabenazine in patients with tics in TS.Funding Acknowledgements:The studies are sponsored by Teva Pharmaceuticals and operationalized by Teva’s development partner, Nuvelution TS Pharma INC.
153 A Lost Family Secret Masquerading as Schizoaffective Disorder and Traumatic Brain Injury. The Atypical, Non-Choreiform Subtype of Huntington’s Disease
Authors: Matzkin Gideon , Katz Rebecca , Rahm Sage , Kanakrieh Yasin , Undavia Anishee , Gilman Megan 
Published: April 2020

Abstract:Title:A Lost Family Secret Masquerading as Schizoaffective Disorder and Traumatic Brain Injury A Atypical, Non-Choreiform Subtype of Huntington’s Disease.Study Objectives:1Describe a case of an atypical presentation of Huntington’s Disease who presented to our acute inpatient setting with the diagnoses of schizoaffective disorder and traumatic brain injury.2Recognize the importance of identifying medical/neurological disease that may be masked by psychiatric symptoms.3Identify areas for improvement for patient-doctor-caregiver communication.Method:Direct patient care, chart review, expert consultation and collateral biographical information obtained from multidisciplinary sources. Performed at Albert Einstein Medical Center, Philadelphia, Pennsylvania.Results:After re-evaluation of a patient discharged from our care with inconclusive MRI brain imaging, it was discovered with prior genetic testing that his unique presentation was in fact an atypical form of Huntington’s Disease with 46 CAG on the IT15 allele 1 on chromosome 4 which is greater than the >36 repeats required for a diagnosis of Huntington’s disease.Conclusions:A thorough history taking and willingness to question an admitting psychiatric diagnosis is an important skill for any clinician. We favored our patient’s diagnosis of schizoaffective disorder due to the circumstances of his arrival and his atypical presentation of Huntington’s disease without the characteristic choreiform movements. His bizarre mannerisms were attributed to his history of TBI and psychotic illness. Oddly enough, the initial medications on which the patient presented were consistent with those often prescribed for the psychotic and mood symptoms of HD, and it is possible that his prior providers may have been treating him but failed to fully educate the patient on the nature of his disease. Although many of the treatments are similar, we felt that the patient was owed an answer about the truth underlying his condition so that he could prepare for the natural course of his illness and be allowed to seek out anything that could delay or reverse his illness. Huntington’s disease is known by its stereotypical choreiform movements; however, the psychiatric co-manifestations may present in up to 10 percent of HD patients with the atypical form which has less-pronounced movement abnormalities and can be interpreted as a psychiatric illness, while overlooking the underlying neurological pathology. Currently, many of the tests are cost prohibitive and require persistence to obtain genetic testing and detailed radiological imaging, but as medical providers, we are ultimately responsible for helping our patients overcome these barriers to offer them the best and most comprehensive care.
154 Functioning in de Novo and Rollover Patients with Bipolar I Disorder Receiving Aripiprazole Once-monthly in a 52-Week, Open-label Study
Authors: Madera Jessica J , Such Pedro , Chen Maxine , Baker Ross A 
Published: April 2020

Abstract:Introduction:Long-term maintenance treatment is essential in management of bipolar I disorder (BP-I) to achieve mood stability, prevent recurrence of mood episodes and improve functioning. Aripiprazole once-monthly 400 mg (AOM 400) is a long-acting formulation of aripiprazole for maintenance treatment of BP-I. In a double-blind, placebo-controlled, randomized withdrawal study in adult patients with BP-I after a manic episode (NCT01567527), AOM 400 delayed time to and reduced rate of recurrence of mood episodes and was safe and well tolerated (1). In an open-label, long-term safety study (NCT01710709), AOM 400 was safe and effective as long-term maintenance treatment (2).Objective:To evaluate the effect of long-term AOM 400 maintenance treatment on manic and depressive symptoms in BP-I patients from the open-label, long term safety study.Methods:Manic and depressive symptoms were assessed post-hoc by analysis of change from study entry in the Young-Mania Rating Scale (YMRS) and Montgomery-Åsberg Depression Rating Scale (MADRS) total scores and line item scores. The mean changes from baseline at last visit in YMRS and MADRS total scores, and single items were calculated using descriptive statistics, using last observation carried forward for total scores and observed cases for single items.Results:A total of 464 patients entered the maintenance phase: 379 were de novo and 85 were rollover patients who completed the double-blind, placebo-controlled withdrawal study. Overall, 63% (291/464) completed 52 weeks of open-label treatment. Mean YMRS and MADRS total scores were minimally changed from baseline (YMRS: 2.31, endpoint change -0.30; MADRS: 3.23, endpoint change +1.24) across the study in the total population.Conclusion:Patients entering an open-label safety study with stable manic and depressive symptoms maintained stability in both types of symptoms, as shown by minimal mean changes from baseline in YMRS and MADRS scores, suggesting that treatment with AOM 400 is effective in preventing re-emergence of both manic and depressive symptoms.Funding Acknowledgements:The study was supported by Otsuka Pharmaceutical Development & Commercialization, Inc.
174 Catatonia Complicated by Encephalopathy-Diagnostic and Treatment Challenges
Authors: Jadapalle Sree Latha Krishna 
Published: April 2020

ABSTRACT:The term Catatonia was coined by Kraepelin in 1893 and was categorized as a subtype of dementia praecox. Bleuler in 1906 redefined it as catatonic Schizophrenia. Over the period of time by accumulating evidence of various case reports and studies its apparent that catatonia is not only seen in Schizophrenia, Affective disorders but is also seen secondary to various medical problems. There is very limited literature describing catatonia in the presence of neurological problems like Encephalopathy. The pathophysiology of Catatonia remains unclear. Given the involvement of common substrates like GABA, Dopamine and glutamate that are altered in many neurological problems and catatonia the differentiation and treatment become complicated.METHOD:We present the case of a 32-year-old male with bipolar II disorder, who was initially went through elective cholecystectomy complicated by bowel perforation and septic shock. Patient had to be intubated and had complicated ICU stay. Various consultation services including Neurology, Infectious disease, psychiatry, Intensivist got involved to address the multiple medical comorbidities like sepsis, encephalopathy and apathy. In spite of improving EEG showing resolving encephalopathy patient remained mute, immobile, not following any instructions, with no oral intake. All imaging including CT scan and MRI repeated 3 times over the period of time were negative. Patient’s psychiatric medications that includes Wellbutrin was held to minimize the risk of seizures. Patient’s neuro exam had positive Babinski and pupils dilated. He also had autonomic dysfunction. There were no clear-cut symptoms to enable us differentiating hypoxic brain injury and Malignant catatonia. We considered the differential diagnosis of Catatonia and initiated Ativan IV challenge.RESULTS:The patient was reassessed one hour after administration of lorazepam. He displayed slight response to Ativan by moving his fingers in the first 24 hrs. We had to continue to titrate the Ativan to very high doses in the period of 3 weeks with a very slow but good response.CONCLUSION:This case reflects the intricacy in diagnosing Catatonia complicated by Encephalopathy and the challenges in its treatment. We want to add on to the current literature on Catatonia masked by multiple medical comorbidities and the challenges of treatment