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Medical presentations of psychiatric disease

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https://www.readbyqxmd.com/read/28433098/wilson-disease-in-children
#1
Eve A Roberts, Piotr Socha
Wilson disease (WD) is an inherited disorder mainly of hepatocellular copper disposition, due to dysfunction of the Wilson ATPase, a P1B-ATPase encoded by the gene ATP7B. In children, as in older age brackets, clinical disease is highly diverse. Although hepatic disease is the common presentation in children/adolescents, neurologic, psychiatric, and hematologic clinical presentations do occur. Very young children may have clinically evident liver disease due to WD. Early diagnosis, preferably when the child/adolescent is asymptomatic, is most likely to result in near-normal longevity with generally good health so long as the patient tolerates effective medication, is adherent to the lifelong treatment regimen, and has consistent access to the medication...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28429448/white-matter-microstructure-variations-contribute-to-neurological-soft-signs-in-healthy-adults
#2
Dusan Hirjak, Philipp A Thomann, Robert C Wolf, Katharina M Kubera, Caspar Goch, Jan Hering, Klaus H Maier-Hein
OBJECTIVE: Neurological soft signs (NSS) are core features of psychiatric disorders with significant neurodevelopmental origin. However, it is unclear whether NSS correlates are associated with neuropathological processes underlying the disease or if they are confounded by medication. Given that NSS are also present in healthy persons (HP), investigating HP could reveal NSS correlates, which are not biased by disease-specific processes or drug treatment. Therefore, we used a combination of diffusion MRI analysis tools to provide a framework of specific white matter (WM) microstructure variations underlying NSS in HP...
April 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28413688/presentation-and-care-of-a-family-with-huntington-disease-in-a-resource-limited-community
#3
Jarmal Charles, Lindyann Lessey, Jennifer Rooney, Ingmar Prokop, Katherine Yearwood, Hazel Da Breo, Patrick Rooney, Ruth H Walker, Andrew K Sobering
BACKGROUND: In high-income countries patients with Huntington disease (HD) typically present to healthcare providers after developing involuntary movements, or for pre-symptomatic genetic testing if at familial risk. A positive family history is a major guide when considering the decision to perform genetic testing for HD, both in affected and unaffected patients. Management of HD is focused upon control of symptoms, whether motor, cognitive, or psychiatric. There is no clear evidence to date of any disease-modifying agents...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28398818/neuroleptic-malignant-syndrome-malignant-catatonia-in-child-psychiatry-literature-review-and-a-case-series
#4
Neera Ghaziuddin, Melissa Hendriks, Paresh Patel, Lee E Wachtel, Dirk M Dhossche
OBJECTIVE: To describe the presentation of neuroleptic malignant syndrome (NMS) and malignant catatonia (MC) in children and adolescents. BACKGROUND: NMS and MC are life-threatening, neuropsychiatric syndromes, associated with considerable morbidity and mortality. NMS is diagnosed when there is a recent history of treatment with an antipsychotic (AP) medication, while MC is diagnosed when the symptoms resemble NMS but without a history of exposure to an AP agent...
February 23, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28396304/comparing-crowdsourcing-and-friendsourcing-a-social-media-based-feasibility-study-to-support-alzheimer-disease-caregivers
#5
Daniel Robert Bateman, Erin Brady, David Wilkerson, Eun-Hye Yi, Yamini Karanam, Christopher M Callahan
BACKGROUND: In the United States, over 15 million informal caregivers provide unpaid care to people with Alzheimer disease (AD). Compared with others in their age group, AD caregivers have higher rates of stress, and medical and psychiatric illnesses. Psychosocial interventions improve the health of caregivers. However, constraints of time, distance, and availability inhibit the use of these services. Newer online technologies, such as social media, online groups, friendsourcing, and crowdsourcing, present alternative methods of delivering support...
April 10, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28390597/association-of-airway-abnormalities-with-22q11-2-deletion-syndrome
#6
Rosalba Sacca, Karen B Zur, T Blaine Crowley, Elaine H Zackai, Kathleen D Valverde, Donna M McDonald-McGinn
INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association. METHODS: We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment...
May 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28355406/syndrome-of-inappropriate-antidiuretic-hormone-secretion-induced-by-the-phytotherapy-harpagophytum-procumbers-case-report
#7
Renata Reis Carvalho, Camila Dermínio Donadel, Arthur Fernandes Cortez, Vitor Ribeiro Gomes de Almeida Valviesse, Pedro Felipe de Almeida Vianna, Bruno Bordallo Corrêa
INTRODUCTION: The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is the inability of antidiuretic hormone (ADH) suppression, compromising the mechanisms of water excretion and urinary concentration. It manifests as hyponatremia and its symptoms, especially neurological. There are many causes that trigger such disease, notably: central nervous system disorders, malignant neoplasm, drugs and others. CASE REPORT: A 65 years female hypertensive patient presented clinical and laboratory manifestations of hyponatremia due to SIADH...
March 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/28353247/combining-patient-reprogrammed-neural-cells-and-proteomics-as-a-model-to-study-psychiatric-disorders
#8
Giuliana S Zuccoli, Daniel Martins-de-Souza, Paul C Guest, Stevens K Rehen, Juliana Minardi Nascimento
The mechanisms underlying the pathophysiology of psychiatric disorders are still poorly known. Most of the studies about these disorders have been conducted on postmortem tissue or in limited preclinical models. The development of human induced pluripotent stem cells (iPSCs) has helped to increase the translational capacity of molecular profiling studies of psychiatric disorders through provision of human neuronal-like tissue. This approach consists of generation of pluripotent cells by genetically reprogramming somatic cells to produce the multiple neural cell types as observed within the nervous tissue...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28353236/identifying-biomarker-candidates-in-the-blood-plasma-or-serum-proteome
#9
Sheila Garcia, Licia C Silva-Costa, Guilherme Reis-de-Oliveira, Paul C Guest, Paulo A Baldasso, Juliana S Cassoli, Daniel Martins-de-Souza
Brain disorders are among the most complex and difficult to understand of human disorders in terms of pathophysiology and etiology. Differently from other human diseases such as cancer, which uses biomarkers in clinical practice, there are no prognostic and diagnostic biomarkers available for psychiatric disorders. Those associated with the likelihood of a successful medication are also not existent, impairing treatment strategies. Proteomics is a suitable tool for identifying such biomarkers to be validated and further implemented in the clinic...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28320164/impact-of-stn-dbs-on-mood-drive-anhedonia-and-risk-of-psychiatric-side-effects-in-the-population-of-pd-patients
#10
Anna Antosik-Wójcińska, Łukasz Święcicki, Monika Dominiak, Emilia Sołtan, Przemyslaw Bieńkowski, Tomasz Mandat
BACKGROUND: DBS is a surgical method of choice for various movement disorders, especially for Parkinson's disease (PD). Many publications showing improvement in motor symptoms and quality of life have been presented while there is little comprehensive research evaluation of the impact of DBS on mental state and psychiatric side-effects. OBJECT: The purpose of this study was to assess the impact of DBS on mood, drive, anhedonia and psychotic symptoms in the group of PD patients...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28303200/atypical-neuroleptic-malignant-syndrome-associated-with-use-of-clozapine
#11
Quevedo-Florez Leonardo, Granada-Romero Juliana, Camargo-Arenas Juan Fernando
The Neuroleptic Malignant Syndrome (NMS) is a medical emergency of infrequent presentation in the emergency department, which is associated with the use of psychiatric drugs, such as typical and atypical antipsychotics. Our case addresses a 55-year-old patient diagnosed with undifferentiated schizophrenia for 10 years, who had been receiving clozapine and clonazepam as part of their treatment. This patient presents the symptoms of Neuroleptic Malignant Syndrome without fever, which improves with treatment especially with the withdrawal of clozapine...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28261116/red-flags-clinical-signs-for-identifying-autoimmune-encephalitis-in-psychiatric-patients
#12
Julia Herken, Harald Prüss
Autoimmune mechanisms causing diverse psychiatric symptoms are increasingly recognized and brought about a paradigm shift in neuropsychiatry. Identification of underlying antibodies against neuronal ion channels or receptors led to the speculation that a number of patients go misdiagnosed with a primary psychiatric disease. However, there is no clear consensus which clinical signs in psychiatric patients should prompt further investigations including measurement of anti-neuronal autoantibodies. We therefore aimed to analyze the presenting symptoms in patients with autoimmune encephalitis and the time between symptom onset and initiation of antibody diagnostics...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28259863/-review-of-the-psychiatric-aspects-of-anti-nmda-n-methyl-d-aspartic-acid-receptor-encephalitis-case-report-and-our-plans-for-a-future-study
#13
Levente Herman, Ildiko Reka Zsigmond, Laszlo Peter, Janos M Rethelyi
Anti-NMDAR (N-methyl-D-aspartic acid receptor) encephalitis, first described in 2007, is a rare, autoimmune limbic encephalitis. In half of the cases anti-NMDAR antibodies are paraneoplastic manifestations of an underlying tumor (mostly ovarian teratoma). In the early stage of the disease psychiatric symptoms are prominent, therefore 60-70% of the patients are first treated in a psychiatric department. In most of the cases, typical neurological symptoms appear later. Besides the clinical picture and typical symptoms, verifying presence of IgG antibodies in the serum or CSF is necessary to set up the diagnosis...
December 2016: Neuropsychopharmacologia Hungarica
https://www.readbyqxmd.com/read/28242149/-hallucinations-etiological-analysis-of-children-admitted-to-a-pediatric-emergency-department
#14
D Vareilles, C Bréhin, C Cortey, A-L Chevrin, T Hamon, M Vignes, Y Chaix, I Claudet
Children's hallucinations pose the dual challenge of diagnosing a possible medical emergency and a possible psychiatric disorder. PURPOSE: The main objective was to analyze the causes of such hallucinations in children presenting to a pediatric emergency department. MATERIAL AND METHODS: We conducted a single-center, observational, retrospective study including all children aged less than 15 years experiencing hallucinations and admitted to our tertiary level pediatric emergency department between 1 January 2007 and 31 December 2015...
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28199071/effect-of-antipsychotic-type-and-dose-changes-on-tardive-dyskinesia-and-parkinsonism-severity-in-patients-with-a-serious-mental-illness-the-cura%C3%A3-ao-extrapyramidal-syndromes-study-xii
#15
Charlotte L Mentzel, P Roberto Bakker, Jim van Os, Marjan Drukker, Glenn E Matroos, Hans W Hoek, Marina A J Tijssen, Peter N van Harten
OBJECTIVE: To test the efficacy of current treatment recommendations for parkinsonism and tardive dyskinesia (TD) severity in patients with severe mental illness (SMI). METHODS: We present an 18-year prospective study including all 223 patients with SMI (as defined by the 1987 US National Institute of Mental Health, which were based on DSM-III-R diagnostic criteria) receiving care from the only psychiatric hospital of the former Netherlands Antilles. Eight clinical assessments (1992-2009) focused on movement disorders and medication use...
March 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28156502/symptom-distress-and-patterns-of-palliative-care-referral-among-oncology-outpatients
#16
Craig D Blinderman
185 Background: The early implementation of palliative care services is recognized as an important aspect of oncologic care. However, rates of referral to palliative care services among oncology patients are still low, and the decision to refer is frequently at the discretion of the treating oncologist or by patient request. We sought to better identify the patterns of referral to outpatient palliative care, as well as patient symptom burden in an effort to target early and high-yield palliative care interventions...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28139266/-characteristics-diseases-and-mortality-of-people-admitted-to-nursing-homes-for-dependent-seniors-during-the-first-quarter-of-2013%C3%A2-in-france
#17
A Atramont, A Rigault, S Chevalier, G Leblanc, A Fagot-Campagna, P Tuppin
BACKGROUND: To describe the state of health, through healthcare consumption and mortality, of people admitted to nursing homes (Ehpad) in France. METHODS: People over the age of 65 years admitted to an Ehpad institution during the first quarter of 2013, beneficiaries of the national health insurance general scheme (69% of the population of this age), were identified from the Resid-Ehpad database and their reimbursed health care was extracted from the SNIIRAM database, identifying 56 disease groups by means of algorithms (long-term disease diagnoses and hospitalisations, medicinal products, specific procedures)...
January 27, 2017: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/28137251/autism-spectrum-disorder-associated-with-49-xyyyy-case-report-and-review-of-the-literature
#18
Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome...
January 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28102860/psychological-interventions-for-irritable-bowel-syndrome-and-inflammatory-bowel-diseases
#19
Sarah Ballou, Laurie Keefer
Psychological interventions have been designed and implemented effectively in a wide range of medical conditions, including Irritable Bowel Syndrome (IBS) and Inflammatory Bowel Diseases (IBD). The psychological treatments for IBS and IBD with the strongest evidence base include: cognitive behavioral therapy, hypnosis, and mindfulness-based therapies. The evidence for each of these therapies is reviewed here for both IBS and IBD. In general, there is a stronger and larger evidence base to support the use of psychological interventions in IBS compared with IBD...
January 19, 2017: Clinical and Translational Gastroenterology
https://www.readbyqxmd.com/read/28086847/cardiac-sarcoidosis-resembling-panic-disorder-a-case-report
#20
Keita Tokumitsu, Jun Demachi, Yukichi Yamanoi, Shigeto Oyama, Junko Takeuchi, Koji Yachimori, Norio Yasui-Furukori
BACKGROUND: Sarcoidosis is a systemic disease of unknown etiology, in which granulomas develop in various organs, including the skin, lungs, eyes, or heart. It has been reported that patients with sarcoidosis are more likely to develop panic disorder than members of the general population. However, there are many unknown factors concerning the causal relationship between these conditions. CASE PRESENTATION: We present the case of a 57-year-old woman who appeared to have panic disorder, as she experienced repeated panic attacks induced by transient complete atrioventricular block, associated with cardiac sarcoidosis...
January 13, 2017: BMC Psychiatry
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