A CD33 frameshift variant is associated with neuromyelitis optica spectrum disorders.

Background: Neuromyelitis optica spectrum disorder (NMOSD) is a rare neuroimmunology disorder predominantly affecting the East Asia population, the reason for this preference remains unknown. Genetic factors such as polymorphisms in human leukocyte antigen (HLA) and interleukins (IL) genes have been reported. Although the familial occurrence of NMOSD is rare, it supports that genetic factors may play a role.

A 50 Year-Old Woman with A Delayed Diagnosis of Neuromyelitis Optica Spectrum Disorder: The Clinical Course and Serial Neuroimaging Findings.

Purpose: Neuromyelitis optica (NMO) spectrum disorder and multiple sclerosis (MS) have similar clinical presentations which may make a diagnostic difficulty, especially when the data of aquaporin-4 (AQP4) antibody is not available. We reported the diagnostic and therapeutic dilemma of a woman with a delayed diagnosis of NMO spectrum disorder for more than 20 years.

Case Report: The patient was a 51 years old woman who suffered from several episodes of relapsing and remission of limbs weakness, visual impairment and gait disturbance since 29 years old.

The Clinical Characteristics and Therapeutic Outcomes of Escherichia Coli Meningitis in Adults.

Background: To examine the clinical characteristics and therapeutic outcome of Escherichia (E.) coli adult bacterial meningitis (ABM).

Methods: The demographic data, clinical and laboratory features and therapeutic outcome of 25 E.

The Clinical Features and Therapeutic Outcomes of Young Adults with Cryptococcal Meningitis.

Objective: No previous study has reported on the clinical characteristics of cryptococcal meningitis (CM) focusing solely on young adults.

Patients And Methods: Ninety-nine adult patients with CM (64 men and 35 women) were enrolled, of whom 26 were classified into the young adult group (≤ 40 years) and 73 into the non-young adult group (> 40 years). The modified Rankin scale (mRS) was used to evaluate the outcomes of the survivors at the time of discharge and at 1 year of follow-up.

Correlation between Hypovitaminosis D and Nutritional Status with The Severity of Clinical Symptoms And Impaired Cognitive Function in Patients with Parkinson's Disease.

Purpose: To evaluate the relationship between the severity of clinical symptoms and cognitive function of patients with Parkinson's disease (PD) and the serum vitamin D level and nutrition status.

Methods: Thirty-three adult PD patient were included in the study (November 2016 to October 2018) and their clinical symptom severity (including the Hoehn and Yahr scale and unified Parkinson's disease rating scale (UPDRS)) and cognitive function (mini-mental state examination) were assessed in two visits (at time of enrollment and one year after the enrollment). In the meanwhile, their renal/liver function, serum level of vitamin D, vitamin B12, Folate and high-sensitive C-reactive protein were also measured for clinical correlation and comparisons.

Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years.

Background: The aim of this study was to use tractography and diffusion kurtosis imaging (DKI) to evaluate cerebral white matter (WM) changes in patients with cerebrotendinous xanthomatosis (CTX) after stopping chenodeoxycholic acid (CDCA) treatment.

Methods: Two siblings with CTX aged 40 and 38 years, respectively, who had been diagnosed with CTX for 16 years were enrolled. They had received CDCA treatment from 2005 until 2015, after which CDCA was no longer available in Taiwan.

Nationwide Population-Based Epidemiological Study for Outcomes of Adjunctive Steroid Therapy in Pediatric Patients with Bacterial Meningitis in Taiwan.

Although corticosteroids can serve as an effective anti-inflammatory adjuvant therapy, the role of adjunctive steroid therapy in pediatric bacterial meningitis in Taiwan remains under-investigated. Cases of acute bacterial meningitis, aged between 1 month and 20 years, were divided into a steroid group (empirical antibiotics with adjunctive steroid therapy) and a non-steroid group (empirical antibiotics only). Data were identified from the annual hospitalization discharge claims of the National Health Insurance Research Database using the International Classification of Diseases, Ninth Revision codes.

Respiratory Muscle Training Improves Functional Outcomes and Reduces Fatigue in Patients with Myasthenia Gravis: A Single-Center Hospital-Based Prospective Study.

Background: Myasthenia gravis (MG) is an immune-mediated disorder characterized by muscle fatigue and fluctuating weakness. Impairment in respiratory strength and endurance has been described in patients with generalized MG. We tested the hypothesis that respiratory muscle training (RMT) can improve functional outcomes and reduce fatigue in patients with MG.

ABCA7 polymorphisms correlate with memory impairment and default mode network in patients with APOEε4-associated Alzheimer's disease.

Background: Since both APOE and ABCA7 protein expression may independently reduce neuritic plaque burden and reorganize fibrillar amyloid burden-mediated disruption of functional connectivity in the default mode network, we aimed to investigate the effect of the APOE-ABCA7 interaction on default mode network in Alzheimer's disease.

Methods: Two hundred and eighty-seven individuals with a diagnosis of typical Alzheimer's disease were included in this study. Memory was characterized and compared between APOE-ε4+ carriers and APOE-ε4 non-carriers within ABCA7 rs3764650T allele homozygous carriers and ABCA7 rs3764650G allele carriers, respectively.

Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder associated with mutations in the CYP27A1 gene, and the genetic features of CTX in Taiwanese have not been examined before.

Objectives: We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan.

Methods: The clinical and molecular genetic features of the two siblings from the new CTX family and the other 7 reported Taiwanese CTX patients were included for analysis.

Neuropsychiatric symptoms in Parkinson's disease: association with caregiver distress and disease severity.

Objectives: The condition of caregivers is important to the quality of care received by people with Parkinson's disease (PD), especially at the late disease stages. This study addresses the distress placed on caregivers by participants' neuropsychiatric symptoms at different stages of PD in Taiwan.

Methods: This prospective study enrolled 108 people with PD.

Characterization of Fibrinogen as a Key Modulator in Patients with Wilson's Diseases with Functional Proteomic Tools.

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism caused by defects in the ATPase gene (ATP7B). The various clinical features result from the massive accumulation of copper in the liver, cornea and basal ganglia. Although WD can be effectively treated with proper medicine, this disease is difficult to clearly diagnose due to its indefinite symptoms.

High incidence of severe neurological manifestations and high mortality rate for adult Listeria monocytogenes meningitis in Taiwan.

The clinical characteristics and therapeutic outcomes of adult Listeria monocytogenes meningitis are not commonly examined in isolation in the literature. During a study period of 19 years (2000-2018), 366 patients with culture-proven adult bacterial meningitis (ABM) were identified in the author's hospital (264 patients in 2000-2010 and 102 patients in 2011-2018). Of the 366 ABM patients, 330 had monomicrobial infections while the other 36 had mixed infections.

The clinical characteristics, implicated pathogens and therapeutic outcomes of culture-proven septic cavernous sinus thrombosis.

In this magnetic resonance imaging-based study, we investigated the clinical features, neuroimaging features and therapeutic outcomes of 14 adults (eight men and six women; mean age 60.4 years; range 37-77 years) with septic cavernous sinus thrombosis (CST). Of the underlying conditions, 10 had diabetes mellitus and 13 had concomitant sphenoid sinusitis.

Adjunctive statin therapy reduces intracranial hemorrhage and 1-year mortality in patients with atrial fibrillation after acute ischemic stroke: A population-based epidemiological study from Taiwan.

Background: Atrial fibrillation (AF)-related stroke causes severe disability and poor prognosis. Adjunctive statin therapy has been recommended for atherosclerotic-related stroke but not AF-related stroke. This study investigated the effects of statin in AF patients who experienced acute ischemic stroke.

Klebsiella pneumoniae brain abscesses in an elderly patient without clinically evident neurological signs and symptoms.

Purpose: It is difficult to diagnose a brain abscess if the patient does not have clinically evident neurological features. We present the diagnosis and therapeutic course of an elderly woman with multiple Klebsiella (K.) pneumoniae brain abscesses without neurological signs or symptoms.

The clinical characteristics of adult cryptococcal meningitis patients who died within one year of treatment with a focus on those with early mortality.

Cryptococcal meningitis (CM) is a serious infectious disease of the central nervous system, and associated brain injuries can be found in the very early stage of disease. In this study, 92 adult CM patients (59 men, 33 women; median age 54.66 years, range 20-86 years) were enrolled, and their clinical, laboratory, neuroimaging features and therapeutic outcomes were analyzed.

Genetic Interaction of and is Associated with Memory Impairment and Hippocampal Atrophy in Alzheimer's Disease.

The and fibroblast growth factor 1 () have both been associated with amyloid β accumulation and neurodegeneration. Investigation the effect of interactions on episodic memory (EM) deficits and hippocampus atrophy (HA) might elucidate the complex clinical-pathological relationship in Alzheimer's disease (AD). EM performance and hippocampal volume (HV) were characterized in patients with mild AD based on -ε4 carrier status (-ε4 carriers versus non-carriers) and single nucleotide polymorphism (rs34011-GG versus rs34011-A-allele carriers).

The Effect of Stroke Subtypes on Baroreceptor Sensitivity, a Predict for Acute Stroke Outcome.

Background: Reduced baroreflex sensitivity (BRS) has been reported in patients with acute cardiovascular events. We tested the hypothesis that BRS varies in different subtypes of acute ischemic stroke (AIS) and that BRS is a predictor of clinical outcomes.

Methods: We examined autonomic parameters in 34 patients with AIS, including the small deep hemisphere infarction, the large hemisphere infarction, and the brainstem infarction groups on Day 1, Day 7, and Day 30 after AIS.

The clinical characteristics of spontaneous Gram-negative bacterial meningitis in adults: A hospital-based study.

The epidemiologic trend of acute bacterial meningitis can change more dramatically than any other bacterial disease, and a decrease in spontaneous adult bacterial meningitis (ABM) has been noted in serial studies of the epidemiologic trend of ABM in Taiwan. The purpose of this study was to analyze the clinical characteristics, laboratory data and therapeutic outcomes of 149 patients with spontaneous Gram-negative (G(-)) ABM collected during a study period of 31 years (1986-2016). The 149 patients included 107 men and 42 women, aged 18-86 years.

The clinical characteristics and therapeutic outcomes of cryptococcal meningitis in elderly patients: a hospital-based study.

Background: The elderly, and especially those with an immuno-compromised status, are vulnerable to infectious diseases. The purpose of this study was to examine the clinical characteristics and therapeutic outcomes of cryptococcal meningitis (CM) in elderly patients in Taiwan.

Methods: Ninety-nine adult patients with CM were identified during a 15-year study period (2002-2016), of whom 38 elderly (≥ 65 years) patients (16 men and 22 women, median age 72.

Intra-family phenotype variations in familial neuromyelitis optica spectrum disorders.

Background: The aim of the current study was to examine intra-family phenotype variations in familial neuromyelitis optica (NMO) spectrum disorder.

Methods: The clinical presentation and neuroimaging features of two family members (mother and daughter) from a NMO spectrum disorder family (index family) were analyzed. Multiplex polymerase chain reaction was performed based on targeted re-sequencing on the AQP4 gene and the human leukocyte antigen (HLA) loci.

Altered Functional Network Affects Amyloid and Structural Covariance in Alzheimer's Disease.

Background: We aimed to investigate how altered intrinsic connectivity networks (ICNs) affect pathologic changes of Alzheimer's disease (AD) at a network-based level.

Methods: Thirty normal controls (NCs), 23 patients with AD-mild cognitive impairment (MCI), and 20 patients with AD-dementia were enrolled. We compared the organization of grey matter structural covariance and functional connectivity in ICNs between NCs and all AD patients who were amyloid (A)-positive.