Engineered Aptamer-Derived Fluorescent Aptasensor: the Label-Free, Single-Step, Rapid Detection of Vancomycin in Clinical Samples.

Currently, the reported vancomycin (VCM) aptamers, including the 3- (K =  9.13 × 10 m) and 4-truncated variants (K = 45.5 × 10 m), are engineered via stem truncation of the VCM parent aptamer, which inevitably compromises their affinities, thus affecting their clinical application within the VCM therapeutic window of 6.

Altered cortical functional networks in Wilson's Disease: A resting-state electroencephalogram study.

The neuropsychiatric symptoms are common in Wilson's disease (WD) patients. However, it remains unclear about the associated functional brain networks. In this study, source localization-based functional connectivity analysis of close-eye resting-state electroencephalography (EEG) were implemented to assess the characteristics of functional networks in 17 WD patients with neurological involvements and 17 healthy controls (HCs).

Cerebral-Cerebellar Cortical Activity and Connectivity Underlying Sensory Trick in Cervical Dystonia.

Objective: The objective of this study was to investigate the activity and connectivity of cerebral and cerebellar cortices underlying the sensory trick (ST) effects in patients with cervical dystonia (CD), using electroencephalography (EEG).

Methods: We recruited 15 CD patients who exhibited clinically effective ST and 15 healthy controls (HCs) who mimicked the ST maneuver. EEG signals and multiple-channel electromyography (EMG) were recorded simultaneously during resting and acting stages.

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.

Background: Neuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the predominant form of neuronal ceroid lipofuscinosis in adults, but it's rare and challenging to diagnose.

Case Description: The proband initially presented with cognitive deterioration and parkinsonian traits.

Autosomal recessive primary microcephaly type 2 associated with a novel splicing variant that disrupts the expression of the functional transcript.

Background: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized primarily by congenital microcephaly and intellectual disability but without extra-central nervous system malformations. This investigation aimed to elucidate the genetic underpinnings of microcephaly in a patient from a Chinese consanguineous family.

Methods: A comprehensive clinical assessment, including brain magnetic resonance imaging (MRI), electroencephalogram (EEG), and genetic analyses, was conducted to evaluate the patient's condition.

Removal of Ocular and Muscular Artifacts From Multi-Channel EEG Using Improved Spatial-Frequency Filtering.

Over recent decades, electroencephalogram (EEG) has become an essential tool in the field of clinical analysis and neurological disease research. However, EEG recordings are notably vulnerable to artifacts during acquisition, especially in clinical settings, which can significantly impede the accurate interpretation of neuronal activity. Blind source separation is currently the most popular method for EEG denoising, but most of the sources it separates often contain both artifacts and brain activity, which may lead to substantial information loss if handled improperly.

Short-Term Efficacy of Cerebello-spinal tDCS and Body Weight-Supported Treadmill Training in the Hypertrophic Olivary Degeneration: a Rare Case Report.

The present case study reported a patient diagnosed with hypertrophic olivary degeneration, a rare condition characterized by a trans-neuronal degeneration and signal enhancement in T2-weighted images on magnetic resonance imaging, usually caused by cerebral hemorrhage, cerebral infarction, and trauma. Furthermore, the relevant literature review was performed. The existing pharmacological treatment has limited clinical benefits on the patient.

Transcranial Alternating Current Stimulation in a Patient with Ataxia-Ocular Apraxia 2: a Case Report.

Ataxia-ocular apraxia 2 (AOA2) is a rare neurodegenerative autosomal recessive disorder with no effective treatment. In this study, we present the case of a patient diagnosed with AOA2, who experienced walking instability and uncoordinated movement. The patient underwent transcranial alternating current stimulation (tACS) treatment for 4 weeks with follow-up after 1 month.

Vision-based estimation of MDS-UPDRS scores for quantifying Parkinson's disease tremor severity.

Parkinson's disease (PD) is a common neurodegenerative movement disorder among older individuals. As one of the typical symptoms of PD, tremor is a critical reference in the PD assessment. A widely accepted clinical approach to assessing tremors in PD is based on part III of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS).

Levodopa-Induced Ocular Dyskinesia in an Early-Onset Parkinson Disease Patient With GBA Mutation.

Objectives: The aim of this study was to report a case of levodopa-induced ocular dyskinesia in an early-onset Parkinson disease patient and to investigate the pathogenic gene.

Methods: We report the case of a 49-year-old male patient with a 13-year history of Parkinson disease. Involuntary eye movements were noticed after treatment with amantadine for limb dyskinesias.

Six Visual Rating Scales as A Biomarker for Monitoring Atrophied Brain Volume in Parkinson's Disease.

The focus of our investigation was to determine the feasibility of using six visual rating scales as whole-brain imaging markers for monitoring atrophied brain volume in Parkinson's disease (PD). This was a prospective cross-sectional single-center observational study. A total of 98 PD patients were enrolled and underwent an MRI scan and a battery of neuropsychological evaluations.

Combination of autoimmune pancreatitis and peripheral neuropathy on an IgG4-related disease patient with 4 years following-up.

Type1 autoimmune pancreatitis (AIP) is the first recognized and the most common manifestation of IgG4-related disease. However, AIP patient presented with neuropathy in the extremities have not been reported previously. We reported a rare combination of autoimmune pancreatitis and peripheral neuropathy on an IgG4-related disease patient based on histological features to expand the clinical spectrum of IgG4-related disease.

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.

Purpose: To analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype-phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD).

Methods: This was a prospective, hospital-based, case-control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation carriers. This study also included a univariate comparison of 17 paired mosaic and non-mosaic patients with FSHD.

Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.

Limb girdle muscular dystrophy LGMD R7 telethonin-related is a rare autosomal recessive muscle disorder characterized by proximal muscle weakness of pelvic and shoulder girdles. Mutation in TCAP is responsible for LGMD R7, and the disease has a wide geographic distribution in diverse populations, but genotype-phenotype relationships remain unclear. We collected 5 LGMD R7 patients from three unrelated Chinese families.

Analysis of Exon Dosage Using Multiplex Ligation-Dependent Probe Amplification in Chinese Patients with Early-Onset Parkinson's Disease.

Introduction: Several studies have identified a number of genes associated with Parkinson's disease (PD). Genomic rearrangements (exon dosage variations) in these genes have emerged as significant, causing mutations. However, exon dosage variations in several PD genes were rarely investigated in Chinese patients.

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

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A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.

Methods: Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.