Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.

The gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies (NEDMABA). Here, we report a girl of Chinese ancestry with intrauterine growth restriction, microcephaly, postnatal developmental delay, arthrogryposis, hypertonicity, seizure, and hypomyelination on brain magnetic resonance imaging; biallelic null variants (c.

Peptidome Analysis of Pancreatic Tissue Derived from T1DM Mice: Insights into the Pathogenesis and Clinical Treatments of T1DM.

Bioactive peptides attract growing concerns for their participation in multiple biological processes. Their roles in the pathogenesis of type 1 diabetes mellitus remain poorly understood. In this study, we used LC-MS/MS technology to compare the peptide profiling between pancreatic tissue of T1DM mice and pancreatic tissue of matched control groups.

Vitamin D supplementation for improving children with bone mineral density: A protocol for systematic review and meta-analysis.

Background: Osteoporosis is usually one of the less perceived complications of chronic illness among children. Previous studies have shown that vitamin D supplementation may be valuable to bone density, especially among children with a deficiency of vitamin D. Yet, the results often remain inconsistent.

Riluzole ameliorates soluble Aβ-induced impairments in spatial memory by modulating the glutamatergic/GABAergic balance in the dentate gyrus.

Soluble amyloid beta (Aβ) is believed to contribute to cognitive deficits in the early stages of Alzheimer's disease (AD). Increased soluble Aβ in the hippocampus is closely correlated with spatial learning and memory deficits in AD. Riluzole (RLZ), an FDA-approved drug for amyotrophic lateral sclerosis (ALS), has beneficial effects for AD.

Rhynchophylline suppresses soluble Aβ-induced impairment of spatial cognition function via inhibiting excessive activation of extrasynaptic NR2B-containing NMDA receptors.

Rhynchophylline (RIN) is a significant active component isolated from the Chinese herbal medicine Uncaria rhynchophylla. The overproduction of soluble amyloid β protein (Aβ) oligomers in the hippocampus is closely involved in impairments in cognitive function at the early stage of Alzheimer's disease (AD). Growing evidences show that RIN possesses neuroprotective effects against Aβ-induced neurotoxicity.

Anticonvulsant effect of Rhynchophylline involved in the inhibition of persistent sodium current and NMDA receptor current in the pilocarpine rat model of temporal lobe epilepsy.

Rhynchophylline (RIN) is a significant active component isolated from the Chinese herbal medicine Uncaria rhynchophylla. Several studies have demonstrated that RIN has a significant anticonvulsant effect in many types of epilepsy models in vivo. However, the mechanisms of the anticonvulsant effect remain elusive.

Gastrodin Reduces the Severity of Status Epilepticus in the Rat Pilocarpine Model of Temporal Lobe Epilepsy by Inhibiting Nav1.6 Sodium Currents.

Temporal lobe epilepsy (TLE) is one of the most refractory types of adult epilepsy, and treatment options remain unsatisfactory. Gastrodin (GAS), a phenolic glucoside used in Chinese herbal medicine and derived from Gastrodia elata Blume, has been shown to have remarkable anticonvulsant effects on various models of epilepsy in vivo. However, the mechanisms of GAS as an anticonvulsant drug remain to be established.

Rhynchophylline Protects Against the Amyloid β-Induced Increase of Spontaneous Discharges in the Hippocampal CA1 Region of Rats.

Accumulated soluble amyloid β (Aβ)-induced aberrant neuronal network activity has been recognized as a key causative factor leading to cognitive deficits which are the most outstanding characteristic of Alzheimer's disease (AD). As an important structure associated with learning and memory, the hippocampus is one of the brain regions that are impaired very early in AD, and the hippocampal CA1 region is selectively vulnerable to soluble Aβ oligomers. Our recent study showed that soluble Aβ1-42 oligomers induced hyperactivity and perturbed the firing patterns in hippocampal neurons.

Gastrodin suppresses the amyloid β-induced increase of spontaneous discharge in the entorhinal cortex of rats.

Accumulated soluble amyloid beta- (Aβ-) induced aberrant neuronal network activity may directly contribute to cognitive deficits, which are the most outstanding characteristics of Alzheimer's disease (AD). The entorhinal cortex (EC) is one of the earliest affected brain regions in AD. Impairments of EC neurons are responsible for the cognitive deficits in AD.

Synaptic mechanisms underlying thalamic activation-induced plasticity in the rat auditory cortex.

Electrical stimulation of ventral division of medial geniculate body (MGBv) neurons evokes a shift of the frequency-tuning curves of auditory cortical (AC) neurons toward the best frequency (BF) of the stimulated MGBv neurons (frequency-specific plasticity). The shift of BF is induced by inhibition of responses at the BF of the recorded AC neuron, with coincident facilitation of responses at the BF of the stimulated MGBv neuron. However, the synaptic mechanisms are not yet understood.

Modulation of action potential trains in rabbit saphenous nerve unmyelinated fibers.

Usually, the main axon is assumed to faithfully conduct action potentials (APs). Recent data have indicated that neural processing can occur along the axonal path. However, the patterns and mechanisms of temporal coding are not clear.

[The diagnosis and treatment of glomus jugulare tumors].

Objective: To discuss the diagnosis and management of glomus jugulare tumors.

Method: Eighteen cases of jugulare tumors were reviewed. Eighteen different kinds of surgical approaches were selected and used in the eighteen cases,eight cases adjuvant therapies were investigated.

[The role of CD137 in the growth of nasal polyps].

Objective: To determine the roles of CD137 in the etiology of nasal polyps by immunohistochemistry.

Method: Forty-four samples of nasal polyps and 11 control samples were studied. Forty-four samples were divided into group A and B on the basis of the endoscopic findings, computed tomography and the criterion of chronic sinusitis and nasal polyp classification.