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https://www.readbyqxmd.com/read/29907136/wilson-s-disease-combined-with-systemic-lupus-erythematosus-a-case-report-and-literature-review
#1
Yun Zhang, Dongmei Wang, Wei Wei, Xuejun Zeng
BACKGROUND: Wilson's disease (WD) is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Systemic lupus erythematosus (SLE) is a multi-system disorder that can manifest in any system. Cases with concomitant WD and SLE, unrelated to treatment with penicillamine, have been rarely reported. CASE PRESENTATION: We report a case of a young woman who had typical neuropsychiatric symptoms and laboratory tests results of WD...
June 15, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29904630/definition-of-npsle-does-the-acr-nomenclature-still-hold
#2
REVIEW
Jessica Fernandes Vivaldo, Jaqueline Cristina de Amorim, Paulo Rogério Julio, Rodrigo Joel de Oliveira, Simone Appenzeller
Systemic lupus erythematosus (SLE) patients have frequently neuropsychiatric manifestations. From the first description of coma in 1875, a variety of manifestations has been described to occur in SLE. However, the lack of standardization reduced the comparability of published studies. In 1999, the American College of Rheumatology published guidelines to define neuropsychiatric nomenclature in SLE. This was the first step toward uniform diagnostic criteria. Several studies have been published since then applying the ACR criteria and frequencies of different manifestations can now be compared between cohorts...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29884173/study-protocol-for-the-emory-3q29-project-evaluation-of-neurodevelopmental-psychiatric-and-medical-symptoms-in-3q29-deletion-syndrome
#3
Melissa M Murphy, T Lindsey Burrell, Joseph F Cubells, Roberto Antonio España, Michael J Gambello, Katrina C B Goines, Cheryl Klaiman, Longchuan Li, Derek M Novacek, Ava Papetti, Rossana Lucia Sanchez Russo, Celine A Saulnier, Sarah Shultz, Elaine Walker, Jennifer Gladys Mulle
BACKGROUND: 3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the range of manifestations is not well described, and the underlying molecular mechanism is not understood...
June 8, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29883330/-systemic-lupus-erythematosus-and-antiphospholipid-syndrome-diagnostic-and-therapeutic-problems
#4
Zbigniew Zdrojewski
Recognizing the antiphospholipid syndrome (APS) in patients with lupus (SLE) can be difficult and therefore underestimated. Detection of antiphospholipid antibodies (aPL) in each patient with SLE should be done as a rule. Introduction of the new classification criteria of this syndrome will certainly improve the recognition of APS in the future. The Sapporo APS classification criteria (1998) were replaced by the Sydney criteria in 2006. Based on the most recent criteria, classification with APS requires one clinical and one laboratory manifestation...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29877092/an-altered-gut-microbiota-in-hiv-infection-future-prospective-of-fmt-therapy
#5
Yongbo Kang, Yue Cai
Human immunodeficiency virus (HIV) infection progressively destroys CD4+ mononuclear cells leading to profound cellular immune deficiency that manifests as life threatening opportunistic infections and malignancies, i.e., the acquired immune deficiency syndrome (AIDS). Gut microbiota play key roles in the modulation of host metabolism and gene expression, maintenance of epithelial integrity, and mediation of inflammatory and immunity. Hence, the normal intestinal microbiota plays a major role in the maintenance of health and disease prevention...
June 7, 2018: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/29875538/successful-management-of-patient-with-sheehan-s-syndrome-presenting-with-psychosis-and-catatonia
#6
Santanu Nath, Rajeev Ranjan, Debadatta Mohapatra, Biswa Ranjan Mishra
Sheehan's syndrome is a neuroendocrine condition that manifests with symptoms of hypopituitarism. It mostly occurs as a complication of parturition due to severe postpartum hemorrhage compromising pituitary circulation. Reports of neuropsychiatric manifestations of Sheehan's syndrome are available with most cases describing psychosis. We report an interesting case of Sheehan's syndrome which presented with catatonia on a psychotic background and its successful management. The possible pathophysiological underpinnings for the causation of catatonia and psychosis in this condition are also discussed...
May 2018: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/29862103/severe-maternal-morbidity-associated-with-systemic-lupus-erythematosus-flare-in-the-second-trimester-of-pregnancy
#7
Matthew J Blitz, Adiel Fleischer
Pregnancy in women with systemic lupus erythematosus (SLE) is associated with an increased risk of adverse maternal and fetal outcomes. Here, we present a case of severe maternal morbidity in a 23-year-old primigravida with SLE and secondary Sjögren's syndrome who experienced a life-threatening multisystem flare at 17 weeks of gestational age. She presented to the emergency department complaining of cough with hemoptysis and shortness of breath. She developed hypoxic respiratory failure and was admitted to the intensive care unit...
2018: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29846157/role-of-serum-autoantibodies-in-blood-brain-barrier-damages-in-neuropsychiatric-systemic-lupus-erythematosus
#8
Shunsei Hirohata, Yuko Sakuma, Yu Matsueda, Yoshiyuki Arinuma, Tamiko Yanagida
OBJECTIVES: The present study was carried out to elucidate the roles of serum autoantibodies in the development of blood-brain barrier (BBB) damages in neuropsychiatric systemic lupus erythematosus (NPSLE). METHODS: Paired serum and CSF samples were obtained from 101 SLE patients when they presented active neuropsychiatric manifestations (69 patients with diffuse psychiatric/neuropsychological syndromes [diffuse NPSLE] and 32 patients with neurologic syndromes or peripheral neuropathy [focal NPSLE])...
May 24, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29813109/prefronto-cortical-dopamine-d1-receptor-sensitivity-can-critically-influence-working-memory-maintenance-during-delayed-response-tasks
#9
Melissa Reneaux, Rahul Gupta
The dopamine (DA) hypothesis of cognitive deficits suggests that too low or too high extracellular DA concentration in the prefrontal cortex (PFC) can severely impair the working memory (WM) maintenance during delay period. Thus, there exists only an optimal range of DA where the sustained-firing activity, the neural correlate of WM maintenance, in the cortex possesses optimal firing frequency as well as robustness against noisy distractions. Empirical evidences demonstrate changes even in the D1 receptor (D1R)-sensitivity to extracellular DA, collectively manifested through D1R density and DA-binding affinity, in the PFC under neuropsychiatric conditions such as ageing and schizophrenia...
2018: PloS One
https://www.readbyqxmd.com/read/29800544/cooperative-and-dissociable-involvement-of-the-nucleus-accumbens-core-and-shell-in-the-promotion-and-inhibition-of-actions-during-active-and-inhibitory-avoidance
#10
Patrick T Piantadosi, Dylan C M Yeates, Stan B Floresco
The flexible implementation of active and passive strategies to avoid danger is critical to survival. Conversely, the inappropriate allocation of these behaviors may underlie pathological avoidance in neuropsychiatric illnesses. The present study investigated whether these two poles of avoidance may be differentially regulated by subdivsions of the nucleus accumbens, the core (NAcC) and shell (NAcS), which are known to bi-directionally control flexible action selection during reward-seeking. In so doing, we developed a novel cued active/inhibitory avoidance task conducted in operant chambers that entailed presentations of two distinct, 15 s auditory cues...
May 22, 2018: Neuropharmacology
https://www.readbyqxmd.com/read/29796397/thyroid-storm-presenting-as-psychosis
#11
Dimpi Desai, Sara Zahedpour Anaraki, Neetha Reddy, Eric Epstein, Vafa Tabatabaie
Thyroid storm is a life-threatening endocrine emergency with an incidence rate of 1% to 2%. It is a systemic condition of excessive thyroid hormone production and release leading to thermoregulatory, adrenergic, neuropsychiatric, cardiovascular, and abdominal manifestations. Although it is a rare condition, it carries a significant mortality rate. Hence, knowing the common and uncommon presentations of thyroid storm is important for its prompt diagnosis and treatment. In this article, we present an unusual case of a young woman who presented with psychosis as the manifesting symptom of thyroid storm...
January 2018: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/29788810/clinical-and-immunological-pattern-and-outcome-of-egyptian-systemic-lupus-erythematosus-patients-a-single-center-experience
#12
G A Mahmoud, A A Shahin, H S Zayed, A Moghazy, B M Eissa
Objective The objective of this study was to describe the clinical and immunological pattern and disease outcome in Egyptian systemic lupus erythematosus patients. Patients and methods The medical records of 770 systemic lupus erythematosus patients who were followed from 2002-2015 at Kasr Alainy Hospital, Cairo University, were retrospectively reviewed. Results There were 707 (91.8%) females. The mean age at disease onset was 22.1 ± 8.6 and the disease duration was 6.1 ± 4.5 years. The main clinical manifestations were mucocutaneous (90...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29784725/pearls-oy-sters-an-unusual-neuropsychiatric-manifestation-of-systemic-lupus-erythematosus
#13
David Dongkyung Kim, Charles Ho, Rebecca King, Sarah A Morrow
No abstract text is available yet for this article.
May 22, 2018: Neurology
https://www.readbyqxmd.com/read/29780755/ovarian-teratoma-associated-anti-n-methyl-d-aspartate-receptor-encephalitis-a-difficult-diagnosis-with-a-favorable-prognosis
#14
Ananya Datta Mitra, Alaa Afify
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit...
April 2018: Autopsy & Case Reports
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#15
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29770363/the-multifaceted-clinical-presentation-of-vcp-proteinopathy-in-a-greek-family
#16
George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#17
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29759891/the-putative-role-of-oxidative-stress-and-inflammation-in-the-pathophysiology-of-sleep-dysfunction-across-neuropsychiatric-disorders-focus-on-chronic-fatigue-syndrome-bipolar-disorder-and-multiple-sclerosis
#18
REVIEW
Gerwyn Morris, Brendon Stubbs, Cristiano A Köhler, Ken Walder, Anastasiya Slyepchenko, Michael Berk, André F Carvalho
Sleep and circadian abnormalities are prevalent and burdensome manifestations of diverse neuro-immune diseases, and may aggravate the course of several neuropsychiatric disorders. The underlying pathophysiology of sleep abnormalities across neuropsychiatric disorders remains unclear, and may involve the inter-play of several clinical variables and mechanistic pathways. In this review, we propose a heuristic framework in which reciprocal interactions of immune, oxidative and nitrosative stress, and mitochondrial pathways may drive sleep abnormalities across potentially neuroprogressive disorders...
April 4, 2018: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#19
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29755900/fahr-s-disease-a-differential-to-be-considered-for-various-neuropsychiatric-presentations
#20
Seyedmohammad Pourshahid, Mohammad Nour Salloum, Mohanad Elfishawi, Mohamed Barakat, Mohammed Basith
Fahr's disease, also known as familial idiopathic basal ganglia calcification, is a neurodegenerative disorder affecting cerebral microvessels, mainly the basal ganglia, and presenting with diverse neuropsychiatric manifestations. It is considered to be mainly hereditary, with autosomal dominant inheritance. In light of its various presentations and incomplete penetrance, Fahr's disease is known to be underestimated and underdiagnosed. Here, an early-onset case of Fahr's disease is presented mainly with pure psychiatric symptoms...
March 11, 2018: Curēus
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