29,190 results match your criteria neurologic involvement


Thrombotic Microangiopathy Associated With Macrophage Activation Syndrome: A Multinational Study of 23 Patients.

J Pediatr 2021 Apr 6. Epub 2021 Apr 6.

IRCCS Istituto Giannina Gaslini, Genoa, Italy; Università degli Studi di Genova, Genoa, Italy; Sechenov First Moscow State Medical University, Moscow, Russian Federation.

Objective: To describe the clinical characteristics, treatment, and outcomes of a multinational cohort of patients with macrophage activation syndrome (MAS) and thrombotic microangiopathy (TMA).

Study Design: International pediatric rheumatologists were asked to collect retrospectively the data of patients with the co-occurrence of MAS and TMA. Clinical and laboratory features of patients with systemic juvenile idiopathic arthritis (sJIA)-associated MAS and TMA were compared with those of an historical cohort of patients with sJIA and MAS. Read More

View Article and Full-Text PDF

Interplay Between Endocrine Disruptors and Immunity: Implications for Diseases of Autoreactive Etiology.

Front Pharmacol 2021 23;12:626107. Epub 2021 Mar 23.

Harvard Medical School, Boston, MA, United States.

The sex-bias of disease susceptibility has remained a puzzling aspect of several autoimmune conditions, including post-infection viral autoimmunity. In the last half of the twentieth century, the incidence rate of female-biased autoimmunity has steadily increased independent of medical advances. This has suggested a role for environmental factors, such as endocrine disrupting chemicals, which have been described to interfere with endocrine signaling. Read More

View Article and Full-Text PDF

Endogenous Opiates and Behavior: 2019.

Authors:
Richard J Bodnar

Peptides 2021 Apr 5:170547. Epub 2021 Apr 5.

Department of Psychology and Neuropsychology Doctoral Sub-Program, Queens College, City University of New York, 65-30 Kissena Blvd., Flushing, NY, 11367, United States. Electronic address:

This paper is the forty-second consecutive installment of the annual anthological review of research concerning the endogenous opioid system, summarizing articles published during 2019 that studied the behavioral effects of molecular, pharmacological and genetic manipulation of opioid peptides and receptors as well as effects of opioid/opiate agonists and antagonists. The review is subdivided into the following specific topics: molecular-biochemical effects and neurochemical localization studies of endogenous opioids and their receptors (1), the roles of these opioid peptides and receptors in pain and analgesia in animals (2) and humans (3), opioid-sensitive and opioid-insensitive effects of nonopioid analgesics (4), opioid peptide and receptor involvement in tolerance and dependence (5), stress and social status (6), learning and memory (7), eating and drinking (8), drug abuse and alcohol (9), sexual activity and hormones, pregnancy, development and endocrinology (10), mental illness and mood (11), seizures and neurologic disorders (12), electrical-related activity and neurophysiology (13), general activity and locomotion (14), gastrointestinal, renal and hepatic functions (15), cardiovascular responses (16), respiration and thermoregulation (17), and immunological responses (18). Read More

View Article and Full-Text PDF

Recent advances in Wilson disease.

Transl Gastroenterol Hepatol 2021 5;6:21. Epub 2021 Apr 5.

Department of Medicine and Surgery, Division of Digestive Diseases and Transplantation and Immunology, Yale University, New Haven CT, USA.

Wilson disease (WD) is rare genetic disorder that presents with varied phenotype that can at times make the diagnosis challenging. Medical treatments are available, but there are still unmet needs for patients. Since life-long therapy is necessary, adherence to medical therapy and best practices for monitoring and individualizing therapy continue to evolve. Read More

View Article and Full-Text PDF

A Case of Sarcoidosis Mimicking Lymphoma Confounded by Cognitive Decline.

Cureus 2021 Mar 3;13(3):e13667. Epub 2021 Mar 3.

Internal Medicine, Wake Forest Baptist Medical Center, Winston-Salem, USA.

Sarcoidosis is a disease with an unknown cause that affects multiple organ systems and has a varied clinical presentation. Often, its symptomatology mimics other disease processes, such as lymphoma, tuberculosis, and amyloidosis. The reticuloendothelial involvement and typical B symptoms of weight loss, fatigue, night sweats, and lymphadenopathy can make sarcoidosis often easily confused with lymphoma. Read More

View Article and Full-Text PDF

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

Neuromuscul Disord 2021 Mar 8. Epub 2021 Mar 8.

School of Biology, College of Science, University of Tehran, Tehran, Iran. Electronic address:

Sandhoff disease is a rare fatal infantile neurologic disorder. Adult onset Sandhoff is even rarer. Variability of clinical features in adult onset Sandhoff patients and overlaps between these and features of other neurologic diseases have sometimes led to mis-diagnosis. Read More

View Article and Full-Text PDF

Linear scleroderma en coup de sabre - a different clinical presentation.

Acta Reumatol Port 2021 Jan-Mar;46(1):72-76

Centro Hospitalar Universitário Cova da Beira.

Localized scleroderma (LoS) is a rare condition featuring skin and underlying tissue sclerosis not usually compromising other systems. A subtype of LoS including lesions in the head is further classified as linear scleroderma en coup de sabre (LSeCS). Neurological involvement in LSeCS can reach up to 4% and may include seizures. Read More

View Article and Full-Text PDF

Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features.

Mitochondrion 2021 Mar 31. Epub 2021 Mar 31.

Department of Medical Genetics, faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Electronic address:

Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which is implicated in RNA-processing exoribonuclease activity. Herein, we report a 34-month-old boy who presented with global developmental delay, muscular hypotonia, hearing impairment, and movement disorders including chorea and dystonia. Read More

View Article and Full-Text PDF

Tryptophan Metabolism and Gut-Brain Homeostasis.

Int J Mol Sci 2021 Mar 15;22(6). Epub 2021 Mar 15.

Department of Infectious Diseases & Immunology, University of Florida, Gainesville, FL 32608, USA.

Tryptophan is an essential amino acid critical for protein synthesis in humans that has emerged as a key player in the microbiota-gut-brain axis. It is the only precursor for the neurotransmitter serotonin, which is vital for the processing of emotional regulation, hunger, sleep, and pain, as well as colonic motility and secretory activity in the gut. Tryptophan catabolites from the kynurenine degradation pathway also modulate neural activity and are active in the systemic inflammatory cascade. Read More

View Article and Full-Text PDF

COVID-19 and Neurological Impairment: Hypothalamic Circuits and Beyond.

Viruses 2021 03 17;13(3). Epub 2021 Mar 17.

Department of Medicine, Austin Health, University of Melbourne, Heidelberg 3084, Australia.

In December 2019, a novel coronavirus known as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in Wuhan, the capital of Hubei, China. The virus infection, coronavirus disease 2019 (COVID-19), represents a global concern, as almost all countries around the world are affected. Clinical reports have confirmed several neurological manifestations in COVID-19 patients such as headaches, vomiting, and nausea, indicating the involvement of the central nervous system (CNS) and peripheral nervous system (PNS). Read More

View Article and Full-Text PDF

Mediator-Related Symptoms and Anaphylaxis in Children with Mastocytosis.

Int J Mol Sci 2021 Mar 7;22(5). Epub 2021 Mar 7.

Department of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, 1090 Vienna, Austria.

Mastocytosis is characterized by the pathological accumulation of mast cells (MC) in various organs. In these patients, MC may degranulate and thereby contribute to clinical symptoms, especially when a concomitant allergy is present. However, MC activation can not only be induced by high-affinity receptors for IgE, but also by anaphylatoxins, neuropeptides, IgG immune complexes, complement-components, drugs, products of bacteria or parasites, as well as physical factors such as heat, cold, vibration, stress, sun, or physical effort. Read More

View Article and Full-Text PDF

Paraneoplastic neurological syndromes: clinical presentations and management.

Ther Adv Neurol Disord 2021 1;14:1756286420985323. Epub 2021 Feb 1.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905-0002, USA.

We provide an overview of the varied presentations of paraneoplastic neurological syndromes. We also review the onconeural antibodies and their particular oncological and neurological associations. Recognition of these syndromes and their oncological associations is crucial, as early diagnosis and management has been associated with better patient outcomes. Read More

View Article and Full-Text PDF
February 2021

New Insights Into the Pathologic Roles of the Platelet-Activating Factor System.

Front Endocrinol (Lausanne) 2021 15;12:624132. Epub 2021 Mar 15.

Department of Pharmacology & Toxicology, Boonshoft School of Medicine at Wright State University, Dayton, OH, United States.

Described almost 50 years ago, the glycerophosphocholine lipid mediator Platelet-activating factor (PAF) has been implicated in many pathologic processes. Indeed, elevated levels of PAF can be measured in response to almost every type of pathology involving inflammation and cell damage/death. In this review, we provide evidence for PAF involvement in pathologic processes, with focus on cancer, the nervous system, and in photobiology. Read More

View Article and Full-Text PDF

Relevant domains and outcome measurement instruments in Neuropsychiatric Systemic Lupus Erythematosus: a systematic literature review.

Rheumatology (Oxford) 2021 Mar 31. Epub 2021 Mar 31.

Department of Medical Sciences, Rheumatology Unit, University of Ferrara and Azienda Ospedaliero-Universitaria S. Anna, Cona (Ferrara), Italy.

Objectives: Although neuropsychiatric involvement in Systemic Lupus Erythematosus (NPSLE) is one of the most complex and troubling manifestations of the disease, validated outcome instruments to be used as sensitive endpoints in controlled clinical trials are lacking. We set out a systematic literature review (SLR) to identify outcome measurement instruments and domains used to assess NPSLE.

Methods: The Preferred Reporting Items for systematic reviews and Meta-analysis (PRISMA) guidelines were used. Read More

View Article and Full-Text PDF

Sporadic Creutzfeldt-Jacob disease presenting as epilepsia partialis continua and non-ictal nystagmus.

Eur J Neurol 2021 Mar 30. Epub 2021 Mar 30.

Neurology Department, Coimbra University and Hospital Centre, Coimbra, Portugal.

Introduction: Creutzfeldt-Jakob disease (CJD) is a rare form of rapidly progressive neurodegenerative disorder. Seizures are uncommon in the early stage of CJD, increasing diagnostic difficulty. We report an autopsy-proven case of CJD presenting initially as an epilepsia partialis continua (EPC), in which the initial workup was all unremarkable. Read More

View Article and Full-Text PDF

Diagnosis of Inherited Retinal Diseases.

Klin Monbl Augenheilkd 2021 Mar 30;238(3):249-259. Epub 2021 Mar 30.

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.

Inherited retinal diseases are a frequent cause of severe visual impairment or blindness in children and adults of working age. Across this group of diseases, there is great variability in the degree of visual impairment, the impact on everyday life, disease progression, and the suitability to therapeutic intervention. Therefore, an early and precise diagnosis is crucial for patients and their families. Read More

View Article and Full-Text PDF

Central Nervous System Involvement in Epstein-Barr Virus-Related Post-Transplant Lymphoproliferative Disorders after Allogeneic Hematopoietic Stem Cell Transplantation.

Transplant Cell Ther 2021 Mar 22;27(3):261.e1-261.e7. Epub 2020 Dec 22.

Hematology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain; CIBERONC, Instituto Carlos III, Madrid, Spain.

Central nervous system (CNS) involvement in Epstein-Barr virus-related post-transplant lymphoproliferative disorders (EBV-PTLDs) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) is poorly defined. We analyzed the incidence, clinical and pathological characteristics, and impact on outcomes of EBV-PTLDs with CNS involvement (CNS-PTLDs) in 1009 consecutive adult patients undergoing allo-HSCT at a single-center institution. Four hundred eighty-two patients received matched sibling donor (MSD) transplants, 388 umbilical cord blood transplants (UCBTs), 56 matched unrelated donor (MUD) transplants, and 83 haploidentical transplants. Read More

View Article and Full-Text PDF

A young man presenting with encephalopathy and seizures secondary to SARS-CoV-2.

BMJ Case Rep 2021 Mar 24;14(3). Epub 2021 Mar 24.

Internal Medicine, Baylor Scott and White Medical Center, Waxahachie, Texas, USA.

COVID-19 has now emerged from a respiratory illness to a systemic viral illness with multisystem involvement. There is still a lot to learn about this illness as new disease associations with COVID-19 emerge consistently. We present a unique case of a neurological manifestation of a patient with structural brain disease who was COVID-19 positive and developed mental status changes, new-onset seizures and findings suggestive of viral meningitis on lumbar puncture. Read More

View Article and Full-Text PDF

Diagnosis and management of adenosine deaminase 2 deficiency children: the experience from China.

Pediatr Rheumatol Online J 2021 Mar 23;19(1):44. Epub 2021 Mar 23.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease caused by mutations in the ADA2 gene. Few Chinese cases have been reported. We describe and compare the clinical features, genotypes, and treatments of Chinese DADA2 patients and non-Chinese patients. Read More

View Article and Full-Text PDF

Neurological manifestations of thrombotic microangiopathy syndromes in adult patients.

J Thromb Thrombolysis 2021 Mar 23. Epub 2021 Mar 23.

Department of Neurology, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55905, USA.

The objective of this study was to compare the frequency and severity of neurologic manifestations in adult patients diagnosed with thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS) and atypical HUS (aHUS). This is a retrospective cohort study of adult patients diagnosed with TTP, HUS and atypical HUS hospitalized at a tertiary center between January 2004 and October 2016. A total of 42 TTP, 16 HUS and 20 aHUS episodes were reviewed to collect clinical, laboratory and radiographic data, as well as information regarding long-term functional outcome. Read More

View Article and Full-Text PDF

Aseptic meningitis in rheumatoid arthritis after anti-TNF administration: a case-based literature review.

Rheumatol Int 2021 Mar 9. Epub 2021 Mar 9.

Division of Rheumatology, Department of Internal Medicine, School of Medicine, Eskişehir Osmangazi University, Eskişehir, 26480, Turkey.

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by articular and extra-articular manifestations. Among extra-articular involvement, rheumatoid meningitis (RM) is a rare condition, which may exhibit variable symptoms including headache, focal and/or generalized neurologic deficits. It may develop as the preceding manifestation of RA or occur at any time of the disease course. Read More

View Article and Full-Text PDF

Posterior Reversible Encephalopathy Syndrome in a Pediatric COVID-19 Patient.

Pediatr Infect Dis J 2021 Mar 16. Epub 2021 Mar 16.

From the Department of Radiology, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty Department of Radiology, University of Health Sciences, Haydarpasa Numune Training and Research Hospital Department of Pediatrics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, Istanbul, Turkey.

Novel coronavirus disease 2019 is a viral infectious disease which commonly involve the lungs with primarily radiologic manifestations of atypical or organizing pneumonia. It can cause multisystemic involvement including central nervous system symptoms. One of these neurologic manifestations is posterior reversible encephalopathy syndrome (PRES). Read More

View Article and Full-Text PDF

Microglial activation in the trigeminal spinal subnucleus interpolaris/caudalis modulates orofacial incisional mechanical pain hypersensitivity associated with orofacial injury in infancy.

J Oral Sci 2021 Mar 18;63(2):170-173. Epub 2021 Mar 18.

Department of Physiology, Nihon University School of Dentistry.

Purpose: Infantile tissue injury induces sensory deficits in adulthood. Infantile facial incision (IFI) was reported to cause an enhancement of incision-induced mechanical hypersensitivity in adulthood due to acceleration of the trigeminal ganglion neuronal excitability. However, the effects of IFI on activation of microglia in the spinal trigeminal nucleus and its involvement in facial pain sensitivity is not well known. Read More

View Article and Full-Text PDF

Unilateral inferior altitudinal visual field defect related to COVID-19.

Indian J Ophthalmol 2021 Apr;69(4):989-991

Department of Ophthalmology, Goa Medical College, Bambolim, Goa, India.

Ocular manifestations of COVID-19 are still being studied. Posterior segment involvement in viral entities is either direct viral involvement or a delayed immune response to the antigen. A 22-year-old woman presented with history of perceiving absolute inferior scotoma in the right eye for 4 days and history of fever and sore throat 10 days ago. Read More

View Article and Full-Text PDF

Digestive system symptoms and function in children with COVID-19: A meta-analysis.

Medicine (Baltimore) 2021 Mar;100(11):e24897

Department of Pediatrics, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China.

Abstract: The prevalence of children exhibiting coronavirus disease 2019 (COVID-19) with digestive system involvement remains unknown. Therefore, we aimed to quantify the impact of COVID-19 on the digestive system of children.In this meta-analysis, we searched PubMed, Embase, and Web of Science from January 1, 2020, to June 31, 2020. Read More

View Article and Full-Text PDF

A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia.

Cureus 2021 Feb 6;13(2):e13174. Epub 2021 Feb 6.

Internal Medicine: Diabetes and Endocrinology, Institute of Diabetology, Stanley Medical College & Hospital, Chennai, IND.

The gene PTRH2 encodes a protein with peptidyl-tRNA hydrolase activity and is involved in the translation process in protein synthesis. The kinesin family member 1-A (KIF1A) gene encodes a molecular motor involved in axonal transport along microtubules. Mutations in these genes lead to respective phenotypical conditions that have been reported in the literature. Read More

View Article and Full-Text PDF
February 2021

Guillain-Barre syndrome associated to COVID-19 infection: a review of published case reports.

Rev Neurol 2021 03;72(6):203-212

Hospital Británico, Ciudad Autónoma de Buenos Aires, Argentina.

Introduction: The coronavirus disease 2019 (COVID-19) pandemic is a major worldwide health disorder. There is an increasing number of neurological complications recognized with COVID-19 including patients with GBS and its variants.

Development: A review of the clinical cases of GBS associated to COVID-19 infection published in the last months has been developed. Read More

View Article and Full-Text PDF

Brain and Lung Imaging Correlation in Patients with COVID-19: Could the Severity of Lung Disease Reflect the Prevalence of Acute Abnormalities on Neuroimaging? A Global Multicenter Observational Study.

AJNR Am J Neuroradiol 2021 Mar 11. Epub 2021 Mar 11.

From the Departments of Neuroradiology, (A.M., A.V., M.G., L.W., G.U., B.W., V.K.), Cardiopulmonary Imaging, (S.K.), Neurology (S.S., D.W.), and Department of Informatics and Interventional Radiology, (S.C.), University of Cincinnati Medical Center, Cincinnati, Ohio.

Purpose: Our aim was to study the association between abnormal findings on chest and brain imaging in patients with coronavirus disease 2019 (COVID-19) and neurologic symptoms.

Materials And Methods: In this retrospective, international multicenter study, we reviewed the electronic medical records and imaging of hospitalized patients with COVID-19 from March 3, 2020, to June 25, 2020. Our inclusion criteria were patients diagnosed with Severe Acute Respiratory Syndrome coronavirus 2 (SARS-CoV-2) infection with acute neurologic manifestations and available chest CT and brain imaging. Read More

View Article and Full-Text PDF

Schwannoma with Psammoma Body.

J Am Podiatr Med Assoc 2021 Feb;111(1)

We present a case of a 59-year-old male veteran with a chronic history of right foot soft-tissue mass that was causing pain in his shoes, but not functional or neurologic symptoms. Excision of the mass and pathologic evaluation resulted in multidisciplinary involvement and evaluation. In this example, the mass was found to be either an unusual schwannoma that happens to be psammoma body-rich or an unusual psammomatous melanocytic schwannoma that deviates from conventional examples, as a diagnostic consensus was unable to be reached. Read More

View Article and Full-Text PDF
February 2021

Biologic treatments in Behçet's disease.

Eur J Rheumatol 2021 Feb 9. Epub 2021 Feb 9.

Division of Rheumatology, Department of Internal Medicine, Marmara University School of Medicine, İstanbul, Turkey.

Behçet's disease (BD) significantly increases morbidity and mortality, especially in young men. While vascular involvement is the most frequent cause of mortality, ocular involvement, which can cause visual loss, is the most important cause of morbidity in BD. Immunosuppressive treatment is the mainstay for major organ involvement. Read More

View Article and Full-Text PDF
February 2021