[Combined resection of thoracic and abdominal organ clusters: a series of 50 cases].

Objective: To examine the technique and effect of combined thoracic and abdominal organ clusters resection. Methods: From February 2019 to August 2021, totally 50 cases of combined thoracoabdominal organ cluster resection were completed at Transplant Medical Center, the Second Affiliated Hospital of Guangxi Medical University from donation after brain death donors. There were 47 males and 3 females, aging (34.8±12.3) years (range: 5 to 55 years). The length of hospital stay(M(IQR)) was 4(4) days (range: 2 to 43 days), the length of tube time was 4(2) days (range: 1 to 43 days). Through the midsternal incision and the abdominal grand cross incision, the cold perfusion was performing simultaneously when the perfusion lines of each target organ was established respectively. The combined resection was performed with the diaphragm as the boundary and the organ cluster as the unit. The heart and lung were separated on site and sent to the transplant hospital, and the abdominal organ cluster was directly preserved and returned to our hospital for further separation and repair. Results: Totaly 21 hearts, 47 pairs of lungs, 49 livers, 47 pairs of kidneys and 11 pancreas were harvested by this surgical treatment. The resection time was (32.6±6.5) minutes (range: 19 to 50 minutes), with no hot ischemia time. There was no accidental injury that affected organ quality and function. Heart transplantation was performed in 17 cases, combined heart-kidney transplantation in 2 cases, double lung transplantation in 43 cases, single lung transplantation in 6 cases, liver transplantation in 41 cases, combined liver-pancreas-duodenal cluster transplantation in 1 case, combined liver-kidney transplantation in 3 cases, combined pancreas-kidney transplantation in 9 cases, and kidney transplantation in 74 cases. Conclusion: Simultaneous perfusion and combined resection of thoracic and abdominal organ clusters for donation after brain death donors are feasible and effective.

[Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].

Objective: To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation. Methods: The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were analyzed retrospectively. Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epileptic encephalopathy 85" "SMC1A, epilepsy" and "SMC1A, truncating" in PubMed, CNKI, and Wanfang databases were searched. Relevant literature was summarized and reviewed. Results: These 4 patients were all female. The onset age of seizure were all in the infantile period. They were admitted to the hospital at 3, 2, 11 and 18 months respectively. Focal seizures occurred in all 4 patients, while 1 of them experienced infantile spasm. The characteristic of cluster was observed in all of them with an interval of 14 days to 5.0 months. The seizures were all refractory to different kinds of anti-seizure medications. All 4 patients had severe developmental retardation with microcephaly (head circumference<-2 s). The interictal electroencephalogram (EEG) was characterized by diffuse slow wave. The 4 SMC1A gene variants were p.Gly655fs, p.Glu811fs, p.Arg412fs and p.Ile143fs, all of which were de novo frameshift variation after parental validation. There were another 17 cases with SMC1A gene truncating variation reported in 6 English articles and 1 Chinese article. Among these 21 patients, who were all female, the onset of seizures occurred between 0.5 and 18.0 months of age. Seventeen cases (81%) had the characteristics of cluster attacks, and the intervals of attack cycles were different. Seizure types included generalized tonic-clonic seizure (12 cases (57%)), focal seizure (11 cases(52%)), myoclonic(4 cases(19%)), spasm (4 cases(19%)), atypical absence (3 cases(14%)), tonic seizure (2 cases (10%)), and atonia (1 case(5%)). In addition, 4 cases (19%) had status epilepsy. All patients had moderate to severe mental retardation. Microcephaly was found in all patients. Among 18 cases,EEG in 8 cases had diffuse slow wave background. Brain magnetic resonance imaging (MRI) was normal in 13 cases (62%). Other MRI changes included cerebellar atrophy (3 cases), thin corpus callosum (3 cases), and lateral ventricular enlargement (2 cases). Twenty patients did not respond well to antiepileptic drugs. Conclusions: The clinical phenotypes of patients with epilepsy encephalopathy 85 caused by SMC1A gene truncating variation are characterized by female, early-onset, clustering of seizures, development delay and microcephaly. Diffuse slow waves are shown in interictal EEG in partial. Response to treatment and prognosis are poor.

Nitrogen-plasma doping of carbon film for a high-quality layered Si/C composite anode.

The effect of the chemical component and microstructure, not to mention their facile modification, of the coating/wrapping carbon layer on the electrochemical performance of the Si/C composite anode in lithium ion batteries (LIBs) hasn't been actively explored although Si/C has been recognized as one of the most promising route for the high energy density LIBs. Herein we propose a novel nitrogen-plasma doping route to modify the top carbon film in an elaborately constructed layered Si/C composite anode. The electrochemical performance, e.g., the initial coulombic efficiency (CE), cycle stability and specific capacity of the composite anode is drastically improved by this plasma processing due to the increased kinetics of lithium ions. By means of the appropriate adjustment of the N doping ratio and N chemical configuration in the carbon layer through a N2/H2 plasma processing, the lithium diffusion rate in the composite anode was memorably increased as the pseudocapacitance effects promoted. The optimized Si/C composite exhibits a high capacity of 1120.7 mA h g-1 and an initial CE of 80.8% at the current of 2 A g-1 after a long cycle of 1500, increasing by ~40% of specific capacity and ~29% of the initial CE.

[Interleukin-1 receptor associated kinase 4 deficiency: a case report and literature review].

Objective: To summarize the clinical characteristics of children with interleukin-1 receptor associated kinase 4 (IRAK4) deficiency. Methods: The clinical data of a child with IRAK4 deficiency who was admitted to the Department of Neurology of Shenzhen Children's Hospital for several times from June 2019 to August 2020 were retrospectively analyzed. Related literature up to January 2021 with the key words "IRAK4 gene variation", and "interleukin-1 receptor-associated kinase 4 deficiency" in PubMed, CNKI, Wanfang, and CQVIP databases were searched. The clinical characteristics of this disease were summarized and analyzed. Results: The boy was 6 years of age and had recurrent respiratory tract infections. He was improved after antibiotic treatment. His clinical manifestation included Streptococcus pneumoniae meningoencephalitis, multiple sclerosis, invasive discitis and inflammatory bone destruction. Family-based whole exome sequencing showed that the boy had a homozygous frameshift variation in the IRAK4 gene, NM_016123.3:C.540del (p.Phe180leufs*26), and both parents were heterozygous. A total of 23 cases were reported in ten English articles. Together with this case, there were 24 cases, including 13 males and 11 females. The age of onset was 8 days to 7 years. The main manifestations were recurrent invasive bacterial infection, including 11 cases with Streptococcus pneumoniae meningitis, 9 cases with Streptococcus pneumoniae and (or) Staphylococcus aureus septicemia, 1 case with Pseudomonas aeruginosa meningitis, 1 case of salmonella infection, and 1 case with Staphylococcus aureus skin abscess. Only 1 case had recurrent virus infection. There were 2 patients with autoimmune diseases, 1 with autoimmune encephalitis and the other one with juvenile idiopathic arthritis. Among the 24 cases, 10 died (9 in infancy). Most of the surviving children were diagnosed early and received antibiotics preventively and intravenous immunoglobulin (IVIG). Their susceptibility to infection decreased year by year, and could be close to normal children at the age of 14 years. Among the 24 cases, 21 cases had homozygous variation of IRAK4 gene and 3 cases had complex heterozygous variation. There were 15 kinds of variation, including 9 kinds of frameshift variation, 4 kinds of nonsense variation and 2 kinds of missense variation. One candidate variation hotspot was c.877 c>T (3 cases). Conclusions: IRAK4 deficiency mainly manifest as recurrent and invasive bacterial infection, with Streptococcus pneumoniae meningitis or septicemia being the most common. A few patients are complicated with autoimmune diseases. The mortality rate is high in infancy, early diagnosis and treatment can avoid severe illness or death.

[Clinical characteristics and ketogenic diet therapy of glucose transporter type 1 deficiency syndrome in children: a multicenter clinical study].

Objective: To explore the clinical characteristics of pediatric glucose transporter type 1 deficiency syndrome (GLUT1 DS), evaluate the efficacy and safety of ketogenic diet therapy (KDT). Methods: Clinical data of 19 children with GLUT1 DS admitted to Children's Hospital of Fudan University, Tianjin Children's Hospital, Shenzhen Children's Hospital, Children's Hospital of Nanjing Medical University and Jiangxi Provincial Children's Hospital between 2015 and 2019 were collected retrospectively. The first onset symptom, main clinical manifestations, cerebrospinal fluid features and genetic testing results of patients were summarized, the efficacy and safety of ketogenic diet treatment were analyzed. Results: Among the 19 cases, 13 were males and 6 females. The age of onset was 11.0 (1.5-45.0) months,the age of diagnosis was 54.0 (2.8-132.0) months. Epilepsy was the first onset symptom of 13 cases. Different forms of tonic-clonic seizures were the most common types of epilepsy (7 cases with generalized tonic-clonic seizures, 5 cases with focal tonic or clonic seizures, 4 cases with generalized tonic seizures). Antiepileptic drugs were effective in 4 cases. Paroxysmal motor dysfunction was present in 12 cases and ataxia was the most common one. All patients had different degrees of psychomotor retardation. Among 17 patients received cerebrospinal fluid examination, cerebrospinal fluid (CSF) glucose level was lower than 2.2 mmol/L and CSF glucose/glycemic index was<0.45 in 16 cases, only 1 case presented normal CSF glucose level (2.3 mmol/L) and normal CSF glucose/glycemic index(0.47). SLC2A1 gene mutations were found in 16 patients, missense, frameshift and nonsense mutations were the common types with 5 cases, 5 cases and 3 cases respectively. All 19 patients were treated with ketogenic diet, which was effective in 18 cases in seizure control, 11 cases in dyskinesia improvement and 18 cases in cognitive function improvement. No serious side effects were reported in any stage of KDT. Conclusions: The diagnosis of GLUT1 DS is often late. It is necessary to improve the early recognition of the disease and perform CSF glucose detection and genetic testing as early as possible. The KDT is an effective and safe treatment for GLUT1 DS, but a small number of patients have not response to diet therapy.

[Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].

Objective: To explore the clinical characteristics of intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) in a family caused by GNB5 gene variation and to review the literature. Methods: The clinical and genetic data of an infant with IDDCA, who visited Shenzhen Children's Hospital in September 2018, were collected and analyzed. His parents' and brother's gene analysis was also done by the next-generation sequencing and confirmed by Sanger sequencing. Related literature up to March 2020 was searched in Online Mendelian Inheritance in Man (OMIM), PubMed, CNKI and Wanfang databases with "GNB5" "IDDCA" "LADCI" "intellectual developmental disorder with cardial arrhythmia" "language delay and attention deficit-hyperactivity disorder or cognitive impairment with or without cardiac arrhythmia" as the key words. The related papers were retrieved and analyzed to summarize the clinical and genetic characteristics of this disorder. Results: The proband was an 11-month-old boy who presented with mental and motor developmental retardation, accompanied with convulsion and muscle weakness. Sinus arrest was also detected. His electroencephalogram (EEG) and flash visual evoked potential (FVEP) were both abnormal. Genetic analysis identified the homozygous frameshift variation of GNB5 gene (c.136delG, p.Glu46Argfs*8) in this infant and heterozygous variation in his parents, confirmed the diagnosis of IDDCA. The same GNB5 variation was identified in his brother, who was 4 years and 8 months old and had developed the similar clinical manifestations after birth. There were only 7 papers reporting this disease in the literature review, with a total of 27 patients from 14 families. Including these 2 cases, there were 29 patients in total, whose age of diagnosis ranged from 5.5 months to 23 years. Among all the patients, 20 cases (69%) were diagnosed as IDDCA, while 8 cases (28%) as LADCI; and 11 (38%) were males while 18 (62%) females. Regarding the clinical features, 66% (19/29) had mental retardation, 41% (12/29) had seizures, 79% (23/29) developed language delay and 62%（18/29） had sinus node dysfunction. Genetic tests showed that 4 patients from 3 families had complex heterozygous variation, and 25 patients (86%) from 12 families had homozygous variation. Seventeen patients from 8 families were consanguineous. Among the total 12 variations, there were 4 nonsense, 3 frameshift, 2 missense and 2 shear mutations, and 1 shear disorder caused by synonymous mutation. Conclusions: IDDCA caused by GNB5 gene variations mainly manifests as general developmental delay or severe mental retardation, and sinus node dysfunction. GNB5 associated syndromes have phenotypic heterogeneity and are inherited in an autosomal recessive manner.

All in one plasma process: From the preparation of S-C composite cathode to alleviation of polysulfide shuttle in Li-S batteries.

Tremendous efforts have been made to improve the electrochemical performance of the lithium-sulfur batteries. However, challenges remain in achieving fast electronic and ionic transport while accommodate the significant cathode volumetric change. On the other hand, the severe capacity decay mainly attributed to polysulfide shuttle also hampers the practical applications. Here, we report a simple, low-cost, and eco-friendly method for the one-step preparation of a binder-free S-C composite cathode by plasma dissociation of CS2 containing gases at room-temperature. The key issue of polysulfide shuttle effect in Li-S batteries is also effectively resolved just by the introduction of N2 into the precursor gases. The electrode exhibits a high reversible capacity of ~600 mAh/g of the total hybrid of S + C at 100 mA/g after 100 cycles with an excellent initial coulombic efficiency of nearly 100%. The cells also demonstrate along cycle life and an extremely high capacity of ~306 mAh/g even after 300 cycles at 1 A/g with a high coulombic efficiency of about 100%. The proposed method will open the way for the plasma applications in facile preparation of Li-S batteries and the improvement of its electrochemical performance.

[The impact of asthma on nasal function in patient with allergic rhinitis].

Objective:To observe the impact of lower allergic respiratory inflammation on nasal function in patient with allergic rhinitis.Method: Patients were divided into three group: allergic rhinitis group, allergic rhinitis with asthma group and control group; the nasal mucociliary transporting rate was evaluated by saccharin test; The pH of nasal mucosa extraction was evaluated by pH test paper; the nasal resistance was evaluated by nasal resistance instrument; the content of eosinophil cationic protein of nasal lavage fluid was evaluated by immunofluorescence.Result: The nasal mucociliary transporting rate was 13.40 mm/min,15.51 mm/min, and 8.03 mm/min in allergic rhinitis group, allergic rhinitis with asthma group and control group,respectively;The pH of nasal mucosa was 6.39, 6.36 and 6.67, respectively, while the pH of allergic rhinitis group and allergic rhinitis with asthma group were significantly higher than control group;the nasal resistance was 0.579 Pa/(cm3•s),0.590 Pa/(cm3•s),and 0.424 Pa/(cm3•s) in allergic rhinitis group, allergic rhinitis with asthma group and control group, respectively, and the nasal resistance of allergic rhinitis group and allergic rhinitis with asthma group were significantly higher than control group;the content of eosinophil cationic protein of nasal lavage fluid was 27.98 µg/L, 35.74 µg/L, and 4.92 µg/L, respectively.Conclusion:The recurrent attack of asthma could lower nasal mucociliary transporting rate in patient with allergic rhinitis, promote the infiltration of EOS in nasal mucosa. In conclusion asthma could play an important role in the pathogenesis of allergic rhinitis.

Substrate integrated waveguide cross-coupling filter with multilayer hexagonal cavity.

Hexagonal cavities and their applications to multilayer substrate integrated waveguide (SIW) filters are presented. The hexagonal SIW cavity which can combine flexibility of rectangular one and performance of circular one is convenient for bandpass filter's design. Three types of experimental configuration with the same central frequency of 10 GHz and bandwidth of 6%, including three-order and four-order cross-coupling topologies, are constructed and fabricated based on low temperature cofired ceramic (LTCC) technology. Both theoretical and experimental results are presented.

Hydropassive evidence and effective factors in stomatal oscillations of Glycyrrhiza inflata under desert conditions.

Whether stomata oscillations induced by atmospheric drought stress are hydropassive or metabolic energy-dependent and the thresholds of some effective factors were studied in Glycyrrhiza inflata. The metabolic inhibitors NaN(3) and carbonyl cyanide-m-phenyl-hydrazone inhibited the respiration. However they could not significantly change the intensity (amplitude/average) of the stomata oscillation. The leaf turgor-pressure was fluctuated simultaneously with the stomata oscillations, whereas the K(+) content of the guard cells did not show oscillations. The oscillation intensity was found to be regulated by vapour pressure deficit (VPD), the proportion of the retained root and the stem flux lag. The minimum threshold of VPD, roots and the stem flux lag may be required to induce the stomata oscillations. The fluctuations of the leaf turgor-pressure induced by the non-synchronization between the transpiration demand and provide of water by the stem flux may be the direct cause of the stomata oscillations in G. inflata under the conditions of high transpiration demand.

[Autoradiography of NMDA receptors in amygdala-kindled rats with tolerance to and dependence on the anticonvulsant effect of clonazepam].

Mechanisms underlying tolerance to and dependence on the anticonvulsant effect of clonazepam are not clear. Autoradiography of the NMDA receptors in amygdala-kindled rats with tolerance to and dependence on the anticonvulsant effect of clonazepam was carried out. When tolerance developed, the binding of [3H] TCP (N-(1-thieny) cyclohexylpiperidine) to NMDA receptors was found to be increased at the polymorphocellular layer of the right CA1, and decreased at the molecular layer of the cerebellar ansiform lobule. On day 7 of the discontinuation of clonazepam, the binding did not change further. These changes may be responsible for the tolerance to and dependence on the anticonvulsant effect of clonazepam. However, the exact significance of these results should be further investigated.

[Role of prostaglandin E in modulation of granulopoiesis by marrow stroma].

The stroma layer (SL) cultured from mouse bone marrow cells for one week, had an inhibitory effect on the granulocyte-macrophage progenitor cells (CFU-GM). The inhibitory effect decreased in the 2nd week SL, while the 3rd week SL promoted CFU-GM growth greatly. When indomethacin (1 x 10(-7) mol/L) was added into the CFU-GM culture system, the score of CFU-GM on the 1st week SL was raised, and on the 2nd week SL was further increased significantly, but it leveled off on the 3rd week SL. The addition of exogenous 10(-8) mol/L PGF1 suppressed the CFU-GM growth on all the 1st to 3rd week SLs. When 1 x 10(-8) mol/L PGE1 was added with 2 x 10(-7) mol/L indomethacin, 1st week SL-CFU-GM increased to 42.61%, 2nd week SL-CFU-GM nearly to 100% of the control. For the 3rd week SL-CFG-GM, 1 x 10(-7) mol/L indomethacin was enough to reverse the inhibition induced by exogenous 1 x 10(-8) mol/L PGE1. It is suggested that definite amount of PGE was produced from cells in the 1st week SL. The secretion of PGE from SL was reduced during 2nd week, and almost stopped in the 3rd week SL. The results indicate that the modulation of granulopoiesis by marrow stroma is, at least partly, mediated by PGE.