FCGR3A-V158F gene polymorphism: A potential predictor for rituximab dosing optimization in Chinese patients with neuromyelitis optica spectrum disorder.

Background: Rituximab (RTX), an anti-CD20 monoclonal antibody, has shown promise in managing neuromyelitis optica spectrum disorders (NMOSD) by depleting B cells and reducing relapses. However, there is no consensus on the optimal RTX dosing regimen, and genetic factors, such as FCGR3A-V158F polymorphism, may influence treatment outcomes. This study investigates how FCGR3A-V158F genotypes influence RTX efficacy in Chinese NMOSD patients under varying dosing regimens and aims to optimize treatment protocols.

Therapeutic efficacy and safety of plasmapheresis in elderly patients with neuromyelitis optica spectrum disorder: a single-center observational study.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a devastating autoimmune disorder with cycles of escalating relapse. Rates of diagnosis in the elderly are increasing. Therapeutic decision-making is more challenging in elderly patients due to multiple comorbidities and high risk of drug-induced side effects.

Successful treatment of rituximab-unresponsive elderly-onset neuromyelitis optica spectrum disorder and hypogammaglobulinemia with ofatumumab plus intravenous immunoglobulin therapy in a patient with mutant genotype: A case report.

Background: Elderly-onset neuromyelitis optica spectrum disorder (NMOSD) is a rare entity that poses a therapeutic challenge. We report a case of elderly-onset NMOSD with mutant genotype who was successfully treated with ofatumumab after multiple episodes of relapse.

Case Report: The patient was a 67-year-old woman who was diagnosed with NMOSD with high disease activity.

Area Postrema Syndrome: A Rare Feature of Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids.

The area postrema syndrome (APS) is a unique diagnostic criterion for neuromyelitis optica spectrum disorders (NMOSD). However, APS has rarely been reported in cases of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). A 36-year-old woman presented with APS and clinical features of diffuse central nervous system involvement during the early stage of the disease.

Clinical utility of AQP4-IgG titers and measures of complement-mediated cell killing in NMOSD.

Objective: To investigate whether aquaporin-4-immunoglobulin G (AQP4-IgG) titers and measures of complement-mediated cell killing are clinically useful to predict the occurrence of relapse, relapse severity, and/or disability in neuromyelitis optica spectrum disorder (NMOSD).

Methods: We studied 336 serial serum specimens from 82 AQP4-lgG-seropositive patients. NMOSD activity at blood draw was defined as preattack (24 [7.

Questioning the existence of monophasic neuromyelitis optica spectrum disorder by defining a novel long-term relapse-free form from a large Chinese population.

Objective: To clarify the existence of monophasic neuromyelitis optica spectrum disorders (NMOSD) and to identify predictive factors of long-term relapse-free form.

Methods: We retrospectively analyzed 289 Chinese patients with NMOSD. Selected subjects were divided into three groups based on the time interval between disease onset and the first relapse, if any.

Reduced sarcolemmal aquaporin 4 expression can support the differential diagnosis of neuromyelitis optica spectrum disorders.

This study aimed to investigate the underlying pathological muscle damage in neuromyelitis optica spectrum disorder (NMOSD) patients without muscular symptoms. We prospectively enrolled 15 patients with aquaporin 4 (AQP4) antibody seropositive NMOSD and 16 patients with non-NMOSD diseases as a control group. Biceps biopsy samples from 18 patients were examined.

[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy].

Objective: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.

Methods: A comprehensive analysis including clinical investigation and genetic testing was carried out.

Results: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy.

Regulatory effect of miR-421 on humeral fracture and heterotopic ossification in elderly patients.

The present study aimed to investigate the role of miR-421 and bone morphogenetic protein-2 (BMP-2) in the bone tissues and blood of elderly patients with humeral fractures and heterotopic ossification. A total of 38 patients with humeral fractures, including 16 patients who received surgery within 1-7 days of fracture and 22 patients who received surgery within 8-14 days of fracture, were enrolled. An additional 18 patients who had heterotopic ossification and 26 patients who had humeral fracture and not heterotopic ossification were also included.

Dose effects of mycophenolate mofetil in Chinese patients with neuromyelitis optica spectrum disorders: a case series study.

Background: Neuromyelitis optica (NMO) spectrum disorder (NMOSD) is a devastating autoimmune inflammatory disorder of the central nervous system, which can result in blindness or paralysis. Currently, there is a dire need for new treatment options in the clinic. Several case series have shown that mycophenolate mofetil (MMF) may be an effective treatment for NMOSD patients.

Early identification of anti-NMDA receptor encephalitis presenting cerebral lesions in unconventional locations on magnetic resonance imaging.

To facilitate the diagnosis of anti-NMDAR encephalitis presenting with brain lesions in unconventional locations (BLUL) on MRI, we retrospectively analyzed forty-five Chinese patients. Eighteen (40.0%) of their MRI initially exhibited one or more BLUL.

Plasma Exchange for Neuromyelitis Optica Spectrum Disorders in Chinese Patients and Factors Predictive of Short-term Outcome.

Purpose: The purposes of this article were to evaluate the short-term outcome of plasma exchange (PLEX) for neuromyelitis optica spectrum disorders (NMOSDs) in Chinese patients and to identify the factors predictive of a favorable response to therapy.

Methods: We retrospectively analyzed data from 29 Chinese patients with NMOSD. All patients received 2 to 7 sessions of PLEX every other day.

Etiological, clinical, and radiological features of longitudinally extensive myelopathy in Chinese patients.

Longitudinally extensive myelopathy (LEM) is a rare spinal syndrome, and was mostly assessed in western populations. In order to investigate the etiological, clinical, and radiological features of LEM in Chinese patients, we retrospectively analyzed eighty-nine (40 men and 49 women, median age 45.9±15.

A case report of SPG11 mutations in a Chinese ARHSP-TCC family.

Background: Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases worldwide.

Case Presentation: We describe a Chinese family with ARHSP-TCC.

Differentiation of neuromyelitis optica spectrum disorders from ultra-longitudinally extensive transverse myelitis in a cohort of Chinese patients.

This study aimed to differentiate neuromyelitis optica spectrum disorders (NMOSD) from other causes in cases of ultra-longitudinally extensive transverse myelitis (uLETM). We retrospectively analyzed thirty-three Chinese patients with uLETM hospitalized in the China-Japan Friendship Hospital. The patients were divided into NMOSD (n=21) and non-NMOSD (n=12) groups.

IgG4-related spinal pachymeningitis.

The aim of this study is to study the clinical, laboratory, imaging pathology, and prognosis features of IgG4-related spinal pachymeningitis. We worked with a 55-year-old man suffering from IgG4-related spinal pachymeningitis who had the most widespread lesion in his dura mater. We also review previous related studies and discuss the clinical characteristics of this rare disease.

[Serum uric acid level and clinical relevance analysis in autoimmune myelopathy].

Objective: To quantify serum uric acid (UA) levels in autoimmune myelopathy (AMs) patients and analyze the clinical relevance.

Methods: Blood samples from hospitalized patients with AMs (n = 69) in acute phase and other neurological disorders (n = 50) between September 2009 and December 2013 and healthy subjects (n = 50) were used to detect UA level by enzymatic calorimetric method.Expanded disability status scale (EDSS) and spinal MRI-T2 imaging were used for clinical and imaging severity evaluations.

[Longitudinally extensive spinal cord lesion: etiology and imaging features].

Objective: To explore the etiologies and imaging features of longitudinally extensive spinal cord lesion (LESCL).

Methods: The etiologies and magnetic resonance (MR) imaging features of 51 hospitalized LESCL patients from January 2011 to August 2013 were reviewed and retrospectively analyzed.

Results: Among them, the causes were neuromyelitis optica spectrum disorder (NMOSD, n = 25), isolated longitudinally extensive transverse myelitis (n = 6), subacute combined degeneration (n = 4), multiple sclerosis (MS, n = 3), paraneoplastic myelopathy (n = 3), anterior spinal artery syndrome (n = 3), acute disseminated encephalomyelitis (n = 2), spinal dural arteriovenous fistula (n = 2), intramedullary spinal cord metastasis (n = 1), myelopathic leukemia (n = 1) and syringomyelus (n = 1).

Short myelitis lesions in aquaporin-4-IgG-positive neuromyelitis optica spectrum disorders.

Importance: Short transverse myelitis (STM; <3 vertebral segments) is considered noncharacteristic of neuromyelitis optica (NMO) spectrum disorders (NMOSDs). Nonappreciation of the potential for STM to occur in NMOSD may lead to increased disability from delay in diagnosis and appropriate treatment.

Objectives: To determine the frequency of short lesions at the initial myelitis manifestation of NMOSD and to compare the demographic, clinical, and radiological characteristics of aquaporin-4-IgG (AQP4-IgG) seropositive and seronegative STM.

[Analysis of clinical features for 8 patients with autoimmune dementia].

Objective: To explore the clinical features and therapeutic profiles of autoimmune dementia.

Methods: Eight hospitalized patients with autoimmune dementia during March 2011 and May 2013 were recruited and retrospectively analyzed for clinical features, as well as therapeutic and prognosis profiles.

Results: There were 3 males and 5 females with a onset age range of 45-72 years.

Aquaporin 4 IgG serostatus and outcome in recurrent longitudinally extensive transverse myelitis.

Importance: Studies focused on recurrent longitudinally extensive transverse myelitis (rLETM) are lacking.

Objectives: To determine the aquaporin 4 (AQP4) IgG detection rate using recombinant human APQ4-based assays in sequential serum specimens collected from patients with rLETM categorized as negative by first-generation tissue-based indirect immunofluorescence (IIF) assay and to define the clinical characteristics and motor disability outcomes in AQP4-IgG-positive rLETM.

Design, Setting, And Participants: A search of the Mayo Clinic computerized central diagnostic index (October 1, 2005, through November 30, 2011), cross-linked with the Neuroimmunology Laboratory database, identified 48 patients with rLETM, of whom 36 (75%) were positive and 12 (25%) negative for neuromyelitis optica (NMO) IgG (per IIF of serial serum specimens).

Updated estimate of AQP4-IgG serostatus and disability outcome in neuromyelitis optica.

Objective: To 1) determine, using contemporary recombinant antigen-based assays, the aquaporin-4 (AQP4)-immunoglobulin G (IgG) detection rate in sequential sera of patients assigned a clinical diagnosis of neuromyelitis optica (NMO) but initially scored negative by tissue-based indirect immunofluorescence (IIF) assay; and 2) evaluate the impact of serostatus on phenotype and outcome.

Methods: From Mayo Clinic records (2005-2011), we identified 163 patients with NMO; 110 (67%) were seropositive by IIF and 53 (33%) were scored seronegative. Available stored sera from 49 "seronegative" patients were tested by ELISA, AQP4-transfected cell-based assay, and in-house fluorescence-activated cell sorting assay.

Effects of age and sex on aquaporin-4 autoimmunity.

Objective: To determine the sex and age distribution of aquaporin-4 (AQP4) autoimmunity using data derived from clinical service laboratory testing of 56,464 patient samples.

Design: Observational analysis.

Setting: Mayo Clinic Neuroimmunology Laboratory.

[Clinical features of ultra longitudinally extensive transverse myelitis].

Objective: To analyze the clinical features of ultra longitudinally extensive transverse myelitis (uLETM).

Methods: Four first-onset uLETM patients hospitalized during September 2009 and March 2011 were recruited and retrospectively analyzed for clinical and MRI (magnetic resonance imaging) features, as well as therapeutic profiles and prognoses.

Results: The male-to-female ratio was 1:3 and the age-of-onset 29 - 33 years old.

[The expression and clinical implications of glucocorticoid receptor isoforms in peripheral blood mononuclear cells in myasthenia gravis].

Objective: To evaluate the expression of glucocorticoid receptor (GR) alpha and GRbeta in peripheral blood mononuclear cells (PBMC) from patients of myasthenia gravis (MG). To investigate the relationship between the expression level of GR and glucocorticoid (GC) therapeutic effects to MG patients.

Methods: The clinical score was recorded and used to assessing the therapeutic effects.