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 clinical effectiveness of autologous hamstring tendon reconstruction with preserved synovial sheath combined with remnant suture in the treatment of anterior cruciate ligament (ACL) tears.Methods:A retrospective study was conducted to analyze the clinical data of 38 patients with ACL tear who had been admitted to Department of Sports Medicine, The Fourth Hospital of Wuhan from January 2016 to July 2020. There were 30 males and 8 females, with an age of (25.4±7.2) years. By the typing of MRI Sherman tear locations (MSTL) for anterior cruciate ligament, 7 cases were Type I and 31 cases type II. A total of 18 patients underwent single bundle reconstruction of autologous hamstring tendon combined with remnant suture (group A), and the other 20 patients underwent conventional reconstruction to clean the synovial sheath of ACL (group B). The operation time,Tenger scores, Lysholm scores, International Knee Documentation Committee (IKDC) subjective score and side-to-side differences in relaxation at pre- operation, 1 year and 2 years after operation, as well as ACL healing of the affected knee at 2 years after operation, were observed and compared between the 2 groups. The graft synovial coverage was evaluated by secondary arthroscopy in some cases.Results:There was no significant difference in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). All patients were followed up for (38.5±8.4) months. No surgical site infection or knee stiffness occurred in the 2 groups after operation, and 2 patients in each group developed intermuscular venous thrombosis at a lower limb. There was no significant difference in operation time between the 2 groups ( P>0.05). There were significant differences in Tenger score [(6.3±1.6) points versus (4.7±1.7) points], Lysholm score [(93.4±4.2) points versus (85.9±4.3) points] and IKDC subjective score [(89.1±2.9) points versus (81.2±2.9) points] between group A and group B at 1 year after operation ( P<0.05), but there was no significant difference in Tenger score, Lysholm score or IKDC subjective score between the 2 groups at 2 years after operation ( P>0.05). There was no significant difference in side-to-side difference in relaxation between the 2 groups at 1 year or 2 years after operation ( P>0.05). MRI evaluation at 2 years after operation showed no recurrent rupture or no sign of impingement between the graft and the intercondylar fossa in either group. Conventional secondary arthroscopy for 2 patients in group A and 3 patients in group B revealed better synovial coverage in group A. Conclusion:In the treatment of ACL tears of MSTL types I and II, compared with conventional reconstruction to clean the synovial sheath of ACL, autologous hamstring tendon reconstruction with preserved synovial sheath combined with remnant suture can lead to better functional recovery at 1 year after operation, though there is no significant difference in function at 2 years after operation.

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 clinical effectiveness of autologous hamstring tendon reconstruction with preserved synovial sheath combined with remnant suture in the treatment of anterior cruciate ligament (ACL) tears.Methods:A retrospective study was conducted to analyze the clinical data of 38 patients with ACL tear who had been admitted to Department of Sports Medicine, The Fourth Hospital of Wuhan from January 2016 to July 2020. There were 30 males and 8 females, with an age of (25.4±7.2) years. By the typing of MRI Sherman tear locations (MSTL) for anterior cruciate ligament, 7 cases were Type I and 31 cases type II. A total of 18 patients underwent single bundle reconstruction of autologous hamstring tendon combined with remnant suture (group A), and the other 20 patients underwent conventional reconstruction to clean the synovial sheath of ACL (group B). The operation time,Tenger scores, Lysholm scores, International Knee Documentation Committee (IKDC) subjective score and side-to-side differences in relaxation at pre- operation, 1 year and 2 years after operation, as well as ACL healing of the affected knee at 2 years after operation, were observed and compared between the 2 groups. The graft synovial coverage was evaluated by secondary arthroscopy in some cases.Results:There was no significant difference in the preoperative general data between the 2 groups, indicating comparability ( P>0.05). All patients were followed up for (38.5±8.4) months. No surgical site infection or knee stiffness occurred in the 2 groups after operation, and 2 patients in each group developed intermuscular venous thrombosis at a lower limb. There was no significant difference in operation time between the 2 groups ( P>0.05). There were significant differences in Tenger score [(6.3±1.6) points versus (4.7±1.7) points], Lysholm score [(93.4±4.2) points versus (85.9±4.3) points] and IKDC subjective score [(89.1±2.9) points versus (81.2±2.9) points] between group A and group B at 1 year after operation ( P<0.05), but there was no significant difference in Tenger score, Lysholm score or IKDC subjective score between the 2 groups at 2 years after operation ( P>0.05). There was no significant difference in side-to-side difference in relaxation between the 2 groups at 1 year or 2 years after operation ( P>0.05). MRI evaluation at 2 years after operation showed no recurrent rupture or no sign of impingement between the graft and the intercondylar fossa in either group. Conventional secondary arthroscopy for 2 patients in group A and 3 patients in group B revealed better synovial coverage in group A. Conclusion:In the treatment of ACL tears of MSTL types I and II, compared with conventional reconstruction to clean the synovial sheath of ACL, autologous hamstring tendon reconstruction with preserved synovial sheath combined with remnant suture can lead to better functional recovery at 1 year after operation, though there is no significant difference in function at 2 years after operation.

Objective To study the relationship between serum Melatonin,macrophage inflammatory pro-tein-1α(MIP-1α)and nucleotide-binding oligomerization domain-like receptor protein 3(NLRP3)inflamma-some and prognosis in children with acute respiratory distress syndrome(ARDS).Methods A total of 140 children with ARDS who were admitted to the hospital from January 2021 to January 2023 were enrolled as the ARDS group,and 100 healthy children who underwent physical examination during the same period were enrolled as the control group.According to the clinical outcome on 28 d after admission,the children with ARDS were divided into a death group(29 cases)and a survival group(111 cases).Enzyme-linked immu-nosorbent assay was used to detect the serum levels of Melatonin,MIP-1α,interleukin(IL)-1β,and IL-18.Re-al-time fluorescent quantitative PCR was used to detect the mRNA levels of NLRP3 and Caspase-1.Pearson correlation was used to analyze the correlation between serum levels of Melatonin and MIP-1α and NLRP3 in-flammasome related indicators(NLRP3 mRNA,Caspase-1 mRNA,IL-1β,IL-18)in children with ARDS.Mul-tivariate Cox regression analysis was used to analyze the factors affecting the prognosis of children with ARDS.According to the mean levels of serum Melatonin and MIP-1α,the children with ARDS were divided in-to a high/low Melatonin group and MIP-1α group.The Kaplan-Meier method was used to draw the survival curves of ARDS children with high/low levels of serum Melatonin and MIP-1α.The receiver operating charac-teristic(ROC)curve was used to analyze the predictive value of serum Melatonin and MIP-1α for death in children with ARDS.Results Compared with the control group,the ARDS group had a significantly decreased serum Melatonin level and significantly increased serum MIP-1α,IL-1β,IL-18 and NLRP3 mRNA and Caspase-1 mRNA levels in peripheral blood mononuclear cells(P＜0.05).Pearson correlation analysis showed that the serum Melatonin level of ARDS children was negatively correlated with NLRP3 mRNA,Caspase-1 mRNA,IL-1β and IL-18(P＜0.05),the level of MIP-1α was positively correlated with NLRP3 mR-NA,Caspase-1 mRNA,IL-1β and IL-18(P＜0.05).Multivariate Cox regression analysis showed that acute physiology and chronic health evaluation Ⅱ score,NLRP3 mRNA,Caspase-1 mRNA,IL-1β,IL-18 and MIP-1αwere independent risk factors affecting the prognosis of children with ARDS.Melatonin was an independent protective factor(P＜0.05).Kaplan-Meier survival curve analysis showed that the 28 d survival rate in high Melatonin group was higher than that in low Melatonin group(P＜0.05),and the 28 d survival rate in high MIP-1α group was lower than that in low MIP-1α group(P＜0.05).ROC curve analysis showed that the area under the curve of Melatonin and MIP-1α combined to predict the death of ARDS children was 0.881(95％CI 0.816-0.930).It was higher than 0.785(95％CI 0.708-0.850)and 0.778(95％CI 0.700-0.844)predic-ted by Melatonin or MIP-1α alone.Conclusion The serum Melatonin level is decreased and MIP-1α level is in-creased in children with ARDS,which is closely related to NLRP3 inflammasome and prognosis.Combined de-tection of serum Melatonin and MIP-1α levels has a high predictive value for the prognosis of children with ARDS.

This paper reports the clinical characteristics and ZNF526 gene mutation in a child with Dentici-Novelli neurodevelopmental syndrome, who was admitted to the Department of Pediatrics at the First Affiliated Hospital of Henan University of Traditional Chinese Medicine in June 2021, and reviews the relevant literature.The male child, 5 years and 1 month old, presented with distinctive facial features, intellectual and motor retardation, language development delays, scattered Mongolian spots on the back and buttocks, brain tissue involvement, visual impairment, and epilepsy.The whole-exome sequencing of the family revealed that the child suffered compound heterozygous mutations, c.1430G>T and c. 475C>T, in the ZNF526 gene.At present, 7 mutation sites in the ZNF526 gene have been reported globally to be associated with neurodevelopmental disorders, and the 2 mutations in this case have not been reported in the literature, broadening the phenotype and mutation spectrum of this disease.

ObjectiveTo investigate the pharmacodynamic characteristics and explore the molecular mechanism of Honghua oral liquid （HOL） in relieving neuropathic pain （NP）. MethodHealthy male SD rats were randomly assigned into sham group， model group， low-， medium-， high-dose （0.5， 1.0， 2.0 mL·kg^-1·d^-1， respectively） HOL groups， and a positive drug （pregabalin， 25 mg·kg^-1·d^-1） group， with 6 rats in each group. Spinal nerve ligation （SNL） of L5 was conducted in other groups except the sham group. Drug administration was performed 3 days after the SNL surgery for 2 consecutive weeks， and samples were collected after the end of the administration. During the treatment period， the mechanical pain threshold and cold pain threshold were determined to measure the pain-relieving effect of HOL. Transcriptome sequencing was performed on hippocampal tissue samples from the sham， model， and high-dose HOL groups， and differentially expressed genes between the sham group and the model group as well as the model group and HOL high-dose group were obtained. After pathway enrichment analysis， we selected the targets which were closely related to neuroinflammation for validation， and predicted the specific binding sites of the major active components in HOL with the targets through molecular docking. In addition， the serum levels of tumor necrosis factor-α （TNF-α） and interleukin-10 （IL-10） were determined by enzyme-linked immunosorbent assay （ELISA） to evaluate the effect of HOL on neuroinflammation in NP rats. ResultCompared with the sham group， SNL decreased the mechanical pain threshold and cold pain threshold （P<0.05）. Compared with the model group， HOL recovered the mechanical pain threshold and cold pain threshold （P<0.05）. The transcriptome data showed that 376 differentially expressed genes （DEGs） were identified between the model group and the sham group， including 124 upregulated genes and 252 downregulated genes， and 194 DEGs between the model group and the high-dose HOL group， including 33 upregulated genes and 161 downregulated genes. Among them， insulin-like growth factor 1（IGF1）， matrix metallopeptidase-2 （MMP-2）， matrix metallopeptidase-14 （MMP-14）， erb-B2 receptor tyrosine kinase 2 （ERBB2）， and integrin subunit alpha 5 （ITGA5） associated with NP were selected for further validation. The Real-time fluorescence quantitative polymerase chain reaction（Real-time PCR） results showed that compared with the sham group， the modeling up-gurelated the mRNA levels of the above five molecules in the hippocampus （P<0.01）. Compared with model group， HOL down-regulated the mRNA levels of these molecules （P<0.01）. The molecular docking results showed that the main active components of safflower， hydroxysafflor yellow A， kaempferol， and quercetin， formed stable hydrogen bonds with the amino acid residues of IGF1， MMP-2， MMP-14， ERBB2， and ITGA5. The enzyme-linked immunosorbent assay（ELISA） results showed that compared with those in the sham group， the serum levels of TNF-α and IL-10 were out of balance in the model rats （P<0.01）. Compared with the model group， HOL lowered the level of the pro-inflammatory cytokine TNF-α （P<0.01） and elevated that of the anti-inflammatory cytokine IL-10 （P<0.05）. ConclusionHOL exerts analgesic effect on SNL rats by inhibiting neuroinflammation.

A case of limb girdle muscular dystrophy type 2S (LGMD2S) caused by maternal uniparental disomy on chromosome 4 at the First Affiliated Hospital of Henan University of Chinese Medicine in March 2020 was reported.The female child, aged 9 months and 4 days, presented with developmental delay after bacterial meningitis in early infancy, decreased muscle strength in infancy and increased muscle and liver enzymes.Family genetic analysis showed that the child′s monodiploid in chromosome 4 was maternal origin, and the homozygous c. 1066T > G (p.Y356D) of TRAPPC11 gene may had pathogenic variation, which came from the child′s mother.The final diagnosis of LGMD2S was made according to the clinical manifestations and gene test results.LGMD2S is a rare autosomal recessive disease caused by the pathogenic variation of TRAPPC11 gene.Its clinical characteristics include proximal limb weakness, motor and intellectual retardation, seizures, motor disorders, elevated serum creatine kinase and muscular dystrophy like pathological changes in children.

Both raw and vinegar products of the rhizome of Curcuma phaeocaulis are common drugs for promoting blood circulation and removing blood stasis in traditional Chinese medicine,which could be reflected in the inhibition of tail thrombosis in mice. As the traditional processing theory instructs,vinegar tastes sour and bitter,but can activate blood circulation and remove stasis after being infiltrated into the rhizome of C. phaeocaulis as an excipient. In this study,under the help of the ultrafast liquid chromatography-quadrupole time-offlight mass spectrometry( UFLC-Q-TOF-MS),the spectrum-effect relationship between the inhibition of tail thrombosis in mice and the rhizome of C. phaeocaulis both before and after the vinegar processing,were established to explore the functional changes of blood circulation and stasis after vinegar process. Based on the peak area from the fingerprint of UFLC-Q-TOF-MS of the alcohol extracts from the raw and vinegar-processed rhizome of C. phaeocaulis and their efficacy for inhibiting tail thrombosis,the correlation between the chromatography of UFLC-Q-TOF-MS and the inhibition of tail thrombosis in mice were analyzed by orthogonal partial least squares discriminant analysis( OPLS-DA) method. The results,produced by Simca-P software,showed that effective components consisted of eight peaks 16,24( aromadendrene oxide),3,11,22( dehydro-α-curcumene),19[( R)-(-)-α-curcumene],23 and 10 from the fingerprint,making great contribution to distinguish C. phaeocaulis raw products and the corresponding vinegar processed products. Therefore,from the perspective of inhibiting the formation of tail thrombosis in mice,the marker components could be found through the spectrum-effect relationship to distinguish C.phaeocaulis raw and vinegar products. This study provided new basis to explain the difference between the raw and the processed products of traditional Chinese medicine in the functional change of promoting blood circulation and removing blood stasis.
Acetic Acid ; Animals ; Chromatography, High Pressure Liquid ; Curcuma ; chemistry ; Drugs, Chinese Herbal ; chemistry ; pharmacology ; Mass Spectrometry ; Mice ; Rhizome ; chemistry ; Thrombosis ; drug therapy

Objective To examine the impact of vacuum sealing drainage on clinical outcomes of patients with post-sternotomy mediastinitis after cardiac surgery. Methods A systematic search were performed in Cochrane Library, Pubmed, Embase, China Biology Medicine(CBM), WanFang, VIP database. The quality of articles was critically appraised and data were extracted by 2 reviewers independently. Meta-analysis were conducted for the eligible researches. Results Fourteen cohort studies were inclued finally. Patients treated with VSD had significantly lower in-hospital mortalityand lower re-infection compared to those treated without VSD. While there had no significant defferences in length of ICU stay(days) and in-hospital stay (days) between VSD group and control group. Conclusions VSD therapy was associated with lower re-infection and in-hospital mortality than other conventional methods in patients with post-sternotomy mediastinitis after cardiac surgery and those results should be further tested in future research and practice.