21,775 results match your criteria involvement onset


Stapedial Reflex: A Possible Novel Biomarker of Early Bulbar Involvement in Amyotrophic Lateral Sclerosis Patients.

Audiol Neurootol 2021 Apr 13:1-8. Epub 2021 Apr 13.

ENT Unit, Department of Surgical Sciences, University of Turin, Turin, Italy.

Background And Aim: Amyotrophic lateral sclerosis (ALS) is a neuromuscular progressive disorder, characterized by limb and bulbar muscle wasting and weakness. 30% of patients present a bulbar onset, while 70% a spinal outbreak, although most of them develop bulbar impairment later on. Due to the lack of an early biomarker of bulbar involvement, we chose to evaluate the role of stapedial reflex (SR) in order to predict preclinical bulbar impairment in ALS. Read More

View Article and Full-Text PDF

Severe chronic low back pain: patient journey from onset of symptoms to strong opioid treatments in Europe.

Pain Manag 2021 Apr 13. Epub 2021 Apr 13.

Grünenthal GmbH, Zieglerstr. 6, 52058 Aachen 4, 90411, Nürnberg, Germany.

We report the first patient roadmap in severe chronic low back pain (cLBP) in Europe, assessing the views of cLBP patients and general practitioners (GPs) who treat cLBP with regard to current cLBP management. Patient journey mapping was conducted in four European countries to assess the views of cLBP patients (n = 20) and GPs (n = 40). Four broad phases of cLBP, subdivided into eight individual steps, were identified as part of the patient journey, showing a disconnect between patients' and physicians' treatment goals, and expectations regarding pain relief levels for some patients. Read More

View Article and Full-Text PDF

Central nervous system involvement in adult-onset relapsing hemophagocytic lymphohistiocytosis responsive to maintenance treatment with anakinra.

J Neuroimmunol 2021 Apr 2;355:577552. Epub 2021 Apr 2.

Department of Rheumatology, Hospital Universitario Virgen Macarena, Seville, Spain.

A 43 year-old male presented with a relapsing and progressive systemic inflammatory disorder with central nervous system (CNS) involvement. After a two years follow up, he was diagnosed with hemophagocytic lymphohistiocytosis (HLH), based on clinical, laboratory and radiological findings. Treatment was started with anakinra, a recombinant humanised interleukin-1 (IL-1) receptor antagonist. Read More

View Article and Full-Text PDF

Perianal Crohn's disease is associated with poor disease outcome: a nation-wide study from the epiIIRN cohort.

Clin Gastroenterol Hepatol 2021 Apr 9. Epub 2021 Apr 9.

Juliet Keidan Institute of Pediatric Gastroenterology Hepatology and Nutrition, Shaare Zedek Medical Center, The Hebrew University of Jerusalem, Israel. Electronic address:

Background & Aims: Limited population-based data have explored perianal involvement in Crohn's disease (CD) and compared the disease course between severe and non-severe perianal CD (PCD). We aimed to explore the disease course of these phenotypes in a population-based study of CD.

Methods: Cases were identified from the epi-IIRN cohort and included two Israeli Health Maintenance Organizations, covering 78% of the population. Read More

View Article and Full-Text PDF

MicroRNA-34a regulates 5-HT2C expression in Dorsal Raphe and contributes to the anti-depressant-like effect of fluoxetine.

Neuropharmacology 2021 Apr 9:108559. Epub 2021 Apr 9.

Dept. of Psychology, Sapienza University, Via Dei Marsi, 78 - 00184 Rome, Italy; IRCCS Fondazione Santa Lucia, Via del Fosso di Fiorano, 64 - 00143 Roma, Italy. Electronic address:

Selective serotonin reuptake inhibitors (SSRIs) are designed to improve mood by raising extracellular serotonin levels through the blockade of the serotonin transporter. However, they exhibit a slow onset of action, suggesting the involvement of adaptive regulatory mechanisms. We hypothesized that the microRNA-34 family facilitates the therapeutic activity of SSRIs. Read More

View Article and Full-Text PDF

[COVID-19 infection presenting as a myocardial infarction. Report of one case].

Rev Med Chil 2020 Dec;148(12):1848-1854

Departamento de Cardiología, Hospital Clínico, Universidad de Chile, Santiago, Chile.

Isolated cardiac involvement of COVID-19 is an infrequent presentation, and myocardial infarction is even less common. We report a 30-year-old man presenting with retrosternal pain of insidious onset whose intensity increases suddenly. On admission, the patient had tachycardia and an EKG showed a 1 mm ST-elevation and diffuse PQ segment depression. Read More

View Article and Full-Text PDF
December 2020

Epidemiology of Idiopathic Inflammatory Myopathies in Africa: A Contemporary Systematic Review.

J Clin Rheumatol 2021 Apr 9. Epub 2021 Apr 9.

From the Department of Internal Medicine and Specialties, Faculty of Medicine and Biomedical Sciences, University of Yaoundé I Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Yaoundé, Cameroon Centre for Heart Rhythm Disorders, University of Adelaide and Royal Adelaide Hospital, Adelaide, Australia Rheumatology Unit, Yaoundé Central Hospital, Yaoundé, Cameroon Department of Internal Medicine and Clinical Immunology, CHRU Lille, Referral Centre for rare systemic autoimmune diseases North and Northwest of France, Univ. Lille, INSERM U995, LIRIC-Lille Inflammation Research International Centre, Lille, France.

Background: The epidemiology of idiopathic inflammatory myopathies (IIMs) has been extensively studied in America, Europe, and Asia, but remains unclear in Africa.

Objective: The aim of this review was to summarize available data on the epidemiology of IIMs in Africa.

Methods: We searched MEDLINE, EMBASE, and African Journals Online for studies published up to December 30, 2020, and reporting epidemiological data on IIMs in Africa. Read More

View Article and Full-Text PDF

Object discrimination performance and dynamics evaluated by inferotemporal cell population activity.

IBRO Neurosci Rep 2021 Jun 25;10:171-177. Epub 2021 Feb 25.

Dept. of Bioengineering, Graduate School of Science and Engineering, Kagoshima University, Kagoshima 890-0065, Japan.

We have previously reported an increase in response tolerance of inferotemporal cells around trained views. However, an inferotemporal cell usually displays different response patterns in an initial response phase immediately after the stimulus onset and in a late phase from approximately 260 ms after stimulus onset. This study aimed to understand the difference between the two time periods and their involvement in the view-invariant object recognition. Read More

View Article and Full-Text PDF

COVID-19-associated leukocytoclastic vasculitis leading to gangrene and amputation.

IDCases 2021 6;24:e01117. Epub 2021 Apr 6.

Rashid Hospital, Internal Medicine Department, Umm Hurair 2, Dubai, United Arab Emirates.

A 41-year-old male with type 2 diabetes mellitus (T2DM) presented with complaints of recent onset limb weakness, diffuse body rash and fever. Computerized Tomography (CT) scan of the brain did not reveal a stroke but laboratory investigations of the patient portrayed multi-systemic involvement. Naso-pharyngeal swab for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was taken which resulted as positive. Read More

View Article and Full-Text PDF

Hyposmia and Dysgeusia in COVID-19: Indication to Swab Test and Clue of CNS Involvement.

Neurol Clin Pract 2021 Apr;11(2):e92-e96

Clinical Neurology Unit (FB, MV, AM, AS, GP, GLG), and Clinical Infectious Diseases Unit (CT, CDC, VG), University of Udine, Italy.

Objective: To evaluate the prevalence of hyposmia and dysgeusia in patients with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and their temporal relationship with the onset of other symptoms.

Methods: We performed a retrospective analysis of patients admitted during the month of March 2020 to the nonintensive COVID unit of Udine University Hospital on the basis of a positive swab test and/or of clinical-radiologic signs of SARS-CoV-2 infection. Patients were interviewed with a standardized questionnaire. Read More

View Article and Full-Text PDF

Fatty Acid-Binding Protein 3 Expression in the Brain and Skin in Human Synucleinopathies.

Front Aging Neurosci 2021 25;13:648982. Epub 2021 Mar 25.

Department of Neurology, National Hospital Organization, Sendai Nishitaga Hospital, Sendai, Japan.

Parkinson's disease (PD) and multiple system atrophy are types of adult-onset neurodegenerative disorders named synucleinopathies, which are characterized by prominent intracellular α-synuclein (αSyn) aggregates. We have previously found that αSyn aggregates and the vulnerability of dopaminergic neurons in the mouse brain are partly associated with the expression of fatty acid-binding protein 3 (FABP3, heart FABP). However, it remains to be elucidated whether FABP3 accumulation is associated with αSyn aggregates in human tissues. Read More

View Article and Full-Text PDF

Pediatric rhegmatogenous retinal detachment: predictors of anatomic and functional success.

Int Ophthalmol 2021 Apr 11. Epub 2021 Apr 11.

Instituto de Oftalmología Conde de Valenciana IAP, Mexico City, Mexico.

Purpose: This study describes presenting clinical features and surgical techniques associated with successful repair of pediatric rhegmatogenous retinal detachment (RRD).

Methods: This is a retrospective case series which involved 242 cases younger than 18 years with new-onset RRD with descriptive statistics for the full group. Further exclusion established 168 cases that underwent surgery with minimum 3-month follow-up. Read More

View Article and Full-Text PDF

Late onset periprosthetic joint infection of the knee caused by Streptococcus anginosus. Case presentation and literature review.

J Infect Dev Ctries 2021 Mar 31;15(3):436-441. Epub 2021 Mar 31.

Department of Chemistry and Pharmacy, University of Sassari, Sassari, Italy.

Periprosthetic joint infection (PJI) is one of the most dramatic complications of joint arthroplasty. Although streptococcal bone and joint infections are less common than staphylococcal cases, their role as causative agents of bone and joint remains significant accounting for at least 10% of PJIs. Streptococcus anginosus group (SAG) bacteria are usually found in the normal flora of the urogenital tract, intestinal tract and oropharynx and could cause pyogenic infections to affect brain, lungs and liver. Read More

View Article and Full-Text PDF

Epileptic hypothalamic hamartomas impact of topography on clinical presentation and radiosurgical outcome.

Epilepsy Res 2021 Mar 23;173:106624. Epub 2021 Mar 23.

Department of Functional and Stereotactic Neurosurgery and Gamma Knife, Timone University Hospital, Aix-Marseille University, Marseille, France; Aix Marseille Univ, INSERM, INS, Inst Neurosci Syst, Marseille, France.

Introduction: Evidence exists for the role of the hypothalamic hamartoma's topography as a determinant for the clinical presentation. How the hamartoma relation to the hypothalamic structures can make clinical presentations, severity and surgery outcomes different from patient to patient is largely unknown. Our aim was to analyze the effect of fine anatomical topography on clinical spectrum and radiosurgery outcome. Read More

View Article and Full-Text PDF

Subclinical upper motor neuron involvement at the diagnosis may predict disease progression in a cohort of lower motor neuron syndromes from Southern Italy.

J Neurol Sci 2021 Mar 16;425:117392. Epub 2021 Mar 16.

Neurology Unit, Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari "Aldo Moro", Piazza Giulio Cesare 11, 70100 Bari, Italy.

Background: Only few epidemiological studies on survival of Lower Motor Neuron (LMN) phenotype (LMNP) are available and with controversial results.

Aims: To prospectively evaluate a cohort of LMNP patients and assess the possible contribute on survival or disease's progression according to the presence of subclinical Upper Motor Neuron (UMN) impairment at the diagnosis.

Methods: Forty LMNP among 176 consecutive incident ALS cases observed in our tertiary center from the ALS-Apulia Register were enrolled in the study. Read More

View Article and Full-Text PDF

Clinical profile and evolution of patients with juvenile-onset Behçet's syndrome over a 25-year period: insights from the AIDA network.

Intern Emerg Med 2021 Apr 9. Epub 2021 Apr 9.

Research Center of Systemic Auto Inflammatory Diseases, Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Center, Rheumatology Unit, Policlinico "Le Scotte", Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Viale Bracci 16, 53100, Siena, Italy.

Behçet's syndrome (BS) represents an understudied topic in pediatrics: the main aims of our study were to characterize demographic and clinical features of a cohort of BS patients with juvenile-onset managed in three tertiary referral centers in Italy, evaluate their evolution in the long-term, and detect any potential differences with BS patients having an adult-onset. Medical records of 64 juvenile-onset and 332 adult-onset BS followed-up over a 2-year period were retrospectively analyzed and compared. Mean age ± SD of first symptom-appearance was 10. Read More

View Article and Full-Text PDF

Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.

Hum Mol Genet 2021 Apr 9. Epub 2021 Apr 9.

Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China.

To identify novel risk genes and better understand the molecular pathway underlying Alzheimer's disease (ad), whole-exome sequencing (WES) was performed in 215 early-onset ad (EOAD) patients and 255 unrelated healthy controls of Han Chinese ethnicity. Subsequent validation, computational annotation and in vitro functional studies were performed to evaluate the role of candidate variants in EOAD. We identified two rare missense variants in the phosphodiesterase 11A (PDE11A) gene in individuals with EOad. Read More

View Article and Full-Text PDF

Biomarkers and the Role of α-Synuclein in Parkinson's Disease.

Front Aging Neurosci 2021 23;13:645996. Epub 2021 Mar 23.

Department of Functional Neurosurgery, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the presence of α-synuclein (α-Syn)-rich Lewy bodies (LBs) and the preferential loss of dopaminergic (DA) neurons in the substantia nigra (SN) pars compacta (SNpc). However, the widespread involvement of other central nervous systems (CNS) structures and peripheral tissues is now widely documented. The onset of the molecular and cellular neuropathology of PD likely occurs decades before the onset of the motor symptoms characteristic of PD, so early diagnosis of PD and adequate tracking of disease progression could significantly improve outcomes for patients. Read More

View Article and Full-Text PDF

Humoral Effect of a B-Cell Tumor on the Bone Marrow Multipotent Mesenchymal Stromal Cells.

Biochemistry (Mosc) 2021 Feb;86(2):207-216

National Research Center for Hematology, Ministry of Health, Moscow, 125167, Russia.

The properties of bone marrow (BM)-derived multipotent mesenchymal stromal cells (MSCs) are altered in the patients with the diffuse large B cell lymphoma (DLBCL) without BM involvement. It was suggested that plasma from the patients contains soluble factors that affect MSCs. Plasma and BM-derived MSCs from the DLBCL patients at the onset of the disease and one month after the end of treatment were studied. Read More

View Article and Full-Text PDF
February 2021

Immune-related adverse events with immune checkpoint inhibitors: Special reference to the effects on the lungs.

Medicine (Baltimore) 2021 Apr;100(14):e25275

Department of Respiratory Medicine, Kyorin University School of Medicine, Tokyo, Japan.

Abstract: Immune checkpoint inhibitors (ICIs) have emerged as evolutionary treatments for malignant diseases. Although ICIs can cause immune-related adverse events (irAEs) in various organs, precise timing after ICI initiation has been scarcely reported. Elucidating the effects of irAEs, such as time to onset, involvement of major organs, influence on progression-free survival (PFS), and overall survival (OS), are critical issues for physicians. Read More

View Article and Full-Text PDF

Osteoperiostitis in children: proposal for a diagnostic algorithm.

Eur J Pediatr 2021 Apr 8. Epub 2021 Apr 8.

Rheumatology Unit, Department of Woman's and Child's Health, University of Padova, Via Giustiniani 3, 35128, Padua, Italy.

Juvenile osteoperiostites (JOP) are a group of inflammatory bone diseases whose differential diagnosis is often difficult. The main conditions are acute osteomyelitis (AOM), chronic non-bacterial osteomyelitis (CNO) and the Goldbloom syndrome (GS). The study was aimed to develop an algorithm to enable an early diagnosis of JOP. Read More

View Article and Full-Text PDF

Genotype-phenotype correlations of stalk domain variants.

Amyotroph Lateral Scler Frontotemporal Degener 2021 Apr 8:1-10. Epub 2021 Apr 8.

Department of Neurology, Brain Centre Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.

The kinesin family member 5A () motor domain variants are typically associated with hereditary spastic paraplegia (HSP) or Charcot-Marie-Tooth 2 (), while tail variants predispose to amyotrophic lateral sclerosis (ALS) and neonatal intractable myoclonus. Variants within the stalk domain of are relatively rare. We describe a family of three patients with a complex HSP phenotype and a likely pathogenic stalk variant. Read More

View Article and Full-Text PDF

Gut-Derived Metabolite Indole-3-Propionic Acid Modulates Mitochondrial Function in Cardiomyocytes and Alters Cardiac Function.

Front Med (Lausanne) 2021 22;8:648259. Epub 2021 Mar 22.

Department of Internal Medicine 1, University Hospital Aachen, Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.

The gut microbiome has been linked to the onset of cardiometabolic diseases, in part facilitated through gut microbiota-dependent metabolites such as trimethylamine--oxide. However, molecular pathways associated to heart failure mediated by microbial metabolites remain largely elusive. Mitochondria play a pivotal role in cellular energy metabolism and mitochondrial dysfunction has been associated to heart failure pathogenesis. Read More

View Article and Full-Text PDF

Discontinuation of preventive antiepileptic drugs in patients with intracerebral hemorrhage.

BMC Neurol 2021 Apr 7;21(1):150. Epub 2021 Apr 7.

Department of Neurology, Ditmanson Medical Foundation Chia-Yi Christian Hospital, 539 Chung-Shao Road, Chia-Yi, Taiwan.

Background: The risk factors for seizures in patients with intracerebral hemorrhage (ICH) stroke and the effect of seizure prevention by anticonvulsant are not well understood. Limited studies have investigated the risk of seizure after discontinuing antiepileptic drugs in patients with ICH. This study aimed to investigate the role of valproic acid (VA) for seizure prevention and to access the risk of seizure after anticonvulsant withdrawal in patients with spontaneous ICH. Read More

View Article and Full-Text PDF

Parallel disease activity of Behçet's disease with renal and entero involvements: a case report.

BMC Nephrol 2021 Apr 7;22(1):122. Epub 2021 Apr 7.

Department of Internal Medicine, Kushiro Red Cross Hospital, 21-14, Shinei-cho, Kushiro, 085-8512, Japan.

Background: Behçet's disease (BD) is a systemic inflammatory vasculitis with both autoimmune and autoinflammatory properties. Renal involvement in BD and its spontaneous remission have been rare. We herein describe a case of parallel disease activity of BD with entero and renal involvements, followed by a spontaneous remission without corticosteroid treatment. Read More

View Article and Full-Text PDF

LONG TERM RENAL SURVIVAL OF PEDIATRIC PATIENTS WITH LUPUS NEPHRITIS.

Nephrol Dial Transplant 2021 Apr 7. Epub 2021 Apr 7.

Department of Pediatrics, Division of Nephrology, Hacettepe University Faculty of Medicine Ankara, Turkey.

Background: Childhood-onset systemic lupus erythematosus (SLE) is more severe than adult-onset disease, including more frequent kidney involvement. This study aimed to investigate baseline clinical features, treatment modalities, short- and long-term renal outcomes of pediatric patients with lupus nephritis (LN).

Materials And Methods: This study enrolled 53 LN patients out of 102 childhood-onset SLE patients followed at Hacettepe University between 2000-2020. Read More

View Article and Full-Text PDF

COVID-19 as a rare cause of facial nerve neuritis in a pediatric patient.

Radiol Case Rep 2021 Jun 1;16(6):1400-1404. Epub 2021 Apr 1.

Department of Radiology, Upstate University Hospital, 750 E Adams St, Syracuse, NY 13210, USA.

COVID-19 has been noted to present with neurological symptoms in nearly 30% of patients. While children are more likely to be asymptomatic, neurological involvement has been observed. We present the case of a 23-month-old previously healthy female who was brought to the emergency room for a new-onset facial droop. 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

Seasonal onset of polymyalgia rheumatica: correlations with the pattern of clinical presentation, disease severity and outcome in 383 patients from a single centre.

Clin Exp Rheumatol 2021 Mar 30. Epub 2021 Mar 30.

Research Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Italy.

Objectives: Polymyalgia rheumatica (PMR) is an inflammatory disorder, more common in the elderly, characterised by girdle pain and stiffness, constitutional symptoms and raised serological markers of inflammation. Studies on the seasonality of onset of PMR have shown conflicting results, possibly due to the different diagnostic criteria and onset recognition. In this study, the month of onset of PMR was evaluated in patients originating from one geographical area, visited by the same clinician. 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