The purpose of this investigation was to elucidate the clinical characteristics and genetic underpinnings of a pediatric patient with neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSW, OMIM#617807). The affected individual, a 1-year-9-month-old male, displayed physical development retardation and distinctive facial features, notably periorbital puffiness, upward-gazing palpebral fissures, a shortened philtrum, a tented mouth, and conical-shaped digits. Clinically, the patient presented with profound global developmental retardation, marked language deficits, hypotonia, and an ataxic gait. Subtle, non-diagnostic alterations were identified in cranial magnetic resonance imaging and visual evoked potential assessments. The trio-whole exome sequencing analysis revealed a de novo heterozygous mutation, c.202G>A (p.A68T), within the RAB11B gene, a known pathogenic variant linked to NDAGSW. Neurodevelopmental disorders due to RAB11B gene variants are rare disorders with clinical manifestations of severe mental retardation, aphasia, motor retardation, gait abnormalities with peculiar phenotypical features, structural abnormalities of the brain, and reduced cerebral white matter, cerebellar hypoplasia, and hypoplasia of the corpus callosum as seen on cranial imaging. Based on the characteristics of the disease, the heterozygous missense mutation c.202G>A (p.Ala68Thr) in the RAB11B gene was identified as the genetic etiology of the child.

The purpose of this investigation was to elucidate the clinical characteristics and genetic underpinnings of a pediatric patient with neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSW, OMIM#617807). The affected individual, a 1-year-9-month-old male, displayed physical development retardation and distinctive facial features, notably periorbital puffiness, upward-gazing palpebral fissures, a shortened philtrum, a tented mouth, and conical-shaped digits. Clinically, the patient presented with profound global developmental retardation, marked language deficits, hypotonia, and an ataxic gait. Subtle, non-diagnostic alterations were identified in cranial magnetic resonance imaging and visual evoked potential assessments. The trio-whole exome sequencing analysis revealed a de novo heterozygous mutation, c.202G>A (p.A68T), within the RAB11B gene, a known pathogenic variant linked to NDAGSW. Neurodevelopmental disorders due to RAB11B gene variants are rare disorders with clinical manifestations of severe mental retardation, aphasia, motor retardation, gait abnormalities with peculiar phenotypical features, structural abnormalities of the brain, and reduced cerebral white matter, cerebellar hypoplasia, and hypoplasia of the corpus callosum as seen on cranial imaging. Based on the characteristics of the disease, the heterozygous missense mutation c.202G>A (p.Ala68Thr) in the RAB11B gene was identified as the genetic etiology of the child.

Objective:To investigate the relationship between osteoarthritis and generalized anxiety disorder (GAD)/depression among rural middle-aged and elderly people in Bayannur, Inner Mongolia Autonomous Region.Methods:From 2016 to 2018, a one-to-one interview questionnaire survey was conducted among 832 rural middle-aged and elderly people aged 45 or above in Bayannur. Logistic regression model was used to explore the relationship between osteoarthritis and GAD/depression.Results:Of 832 rural middle-aged and elderly participants, 28.73% (239/832) were diagnosed with osteoarthritis. The risk of GAD and depression increased by 71% [adjusted odds ratio ( AOR): 1.71, 95% confidence interval ( CI): 1.12 - 2.60] and 68% ( AOR: 1.68, 95% CI: 1.10 - 2.58), respectively, in patients with osteoarthritis compared with those without osteoarthritis. Conclusions:The prevalence of osteoarthritis is high among the middle-aged and elderly people in Bayannur, Inner Mongolia Autonomous Region. Osteoarthritis may increase the risk of GAD/depression. It is necessary to take corresponding intervention measures to prevent the occurrence of osteoarthritis to reduce GAD/depression.

Objective To observe the effect of sinomenine(SINO) on immune function of adjuvant arthritis(AA) rats.Methods SD rats were randomized into normal group,model group,SINO groups(treated with gastric gavage of SINO at the doses of 60,120 and 240 mg/kg respectively),and glucosides of Tripterygium Wilfordii(30 mg/kg) group.Except the normal group,the rats in other groups received subcutaneous injection of the complete Freund's adjuvant 0.1mL into the left hind foot to induce AA.The medication began from 12 days after the modeling and lasted 12 days.The pedal swelling and joint function scores were observed in different time.Radioimmunoassay was used to detect the contents of interleukin-1?(IL-1?) and tumor necrosis factor ?(TNF-?) in synovial cells.Expression of IL-1? and TNF-? mRNA was examined by reverse transcription-polymerase chain reaction(RT-PCR) assay.Results SINO at different concentrations decreased the pedal swelling and arthritis scores to various degrees,inhibited the production of IL-1? and TNF-? in the synovial cells,reduced the expression of IL-1? and TNF-? mRNA,and recovered the normal histological features of synovial cells in AA rats.Conclusion The therapeutic mechanism of SINO for rheumatoid arthritis may be related with the inhibition of secretion of inflammatory mediators in synovial cells,and with the recovery of histological features of synovial cells.