Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurometabolic disease.Pathogenic mutations in ALDH5A1 genes lead to abnormalities in the structure, activity and function of succinic semialdehyde dehydrogenase, resulting in a series of neurological damage.Due to the rarity of SSADHD and the huge differences in its clinical manifestations, it often leads to misdiagnosis or delayed diagnosis, and the treatment is mainly symptomatic.There is no specific drug or treatment.In March 2024, the SSADHD consensus group, composed of SSADHD researchers from 19 institutions in 11 countries and regions, released the " Consensus Guidelines for the Diagnosis and Management of Succinic Semialdehyde Dehydrogenase Deficiency" , which elaborates on the definition, epidemiology, clinical manifestations, diagnosis, and treatment of SSADHD, aiming to standardize and unify the diagnosis and management of SSADHD.This article interprets the key contents of the guidelines, in order to provide guidance for the early screening, diagnosis and treatment of SSADHD in China.

OX40 is a costimulatory receptor that is expressed primarily on activated CD4⁺, CD8⁺, and regulatory T cells. The ligation of OX40 to its sole ligand OX40L potentiates T cell expansion, differentiation, and activation and also promotes dendritic cells to mature to enhance their cytokine production. Therefore, the use of agonistic anti-OX40 antibodies for cancer immunotherapy has gained great interest. However, most of the agonistic anti-OX40 antibodies in the clinic are OX40L-competitive and show limited efficacy. Here, we discovered that BGB-A445, a non-ligand-competitive agonistic anti-OX40 antibody currently under clinical investigation, induced optimal T cell activation without impairing dendritic cell function. In addition, BGB-A445 dose-dependently and significantly depleted regulatory T cells in vitro and in vivo via antibody-dependent cellular cytotoxicity. In the MC38 syngeneic model established in humanized OX40 knock-in mice, BGB-A445 demonstrated robust and dose-dependent antitumor efficacy, whereas the ligand-competitive anti-OX40 antibody showed antitumor efficacy characterized by a hook effect. Furthermore, BGB-A445 demonstrated a strong combination antitumor effect with an anti-PD-1 antibody. Taken together, our findings show that BGB-A445, which does not block OX40-OX40L interaction in contrast to clinical-stage anti-OX40 antibodies, shows superior immune-stimulating effects and antitumor efficacy and thus warrants further clinical investigation.
Mice ; Animals ; Receptors, Tumor Necrosis Factor/physiology* ; Receptors, OX40 ; Membrane Glycoproteins ; Ligands ; Antibodies, Monoclonal/pharmacology* ; Antineoplastic Agents/pharmacology*

Developmental coordination disorder (DCD) is a childhood-onset condition that primarily affects physical co-ordination.In China, DCD is not well recognized and is under-treated.Knowledge of the evaluation and intervention of DCD among physiotherapists (PT) is limited.In 2020, the Academy of Pediatric Physical Therapy of the American Physical Therapy Association published the Physical Therapy Management of Children with Developmental Coordination Disorder: An Evidence-Based Clinical Practice Guideline.From the perspective of PT, this review aims to make a comprehensive interpretation of the recommendations in the guideline regarding the physical examination and evaluation, physiotherapy planning and implementation, and family education of children at risk or diagnosed with DCD.This article aims to make DCD get more attention from domestic PT through the interpretation of the latest guidelines, and strengthen the knowledge of physiotherapy assessment and management in children with DCD to guide the clinical practice.

Objective:To analyze the categories, scoring methods and effects of dietary patterns in heart failure patients, systematically.Methods:The databases such as Medline, Embase, and Cochrane were searched to obtain articles on dietary patterns of heart failure patients up to December 31, 2019. Arksey and O′Malley's scoping review method was applied to analyze the articles.Results:A total of 1 500 studies were identified, 21 of them met the inclusion criteria. These studies mainly studied Mediterranean diet(11 articles), Dietary Approaches to Stop Hypertension Diet(7 articles), Palaeolithic diet(1 article), low fat diet(1 article), High-protein Diet(1 article).Conclusions:The Mediterranean and DASH dietary patterns have a positive protective effect on heart failure disease prevention and treatment, but more randomized controlled trials are needed to improve the reliability of the conclusions.

Objective To explore the development and clinical effect of weight_adjustable suit for children with dyskinetic cerebral palsy. Methods Twenty_six cerebral_palsy children with involuntary movement admitted to the Third Hospital Affiliated to Jiamusi University from March to October 2016 were randomly divided into the observa_tion group and the control group,13 cases in each group. The control group was treated with routine rehabilitation trai_ning. The observation group was put on adjustable heavy clothes besides conventional rehabilitation. Before and after treatment,childrenˊs functional independence and gross motor function were assessed and compared by using Wee Punc_tional Independence Measure(Wee_PIM)and Gross Motor Punction Rating Scale(GMPM_88). Results After treat_ment the Wee_PIM score of the control group was(43. 24 ± 5. 58),the GMPM score was(61. 81 ± 9. 46),the Wee_PIM score of the observation group was(50. 21 ± 6. 03),and the GMPM score was(65. 73 ± 10. 17). There were sig_nificant differences between the two groups(P〈0. 05),while the scores of the observation group were significantly higher than those of the control group,and the difference was significant(t﹦2. 582,2. 346,all P〈0. 05). Conclusions The adjustable heavy suit can effectively improve the functional independence and gross motor function of cerebral palsy children with involuntary movement and their comprehensive ability,and it is worth trying clinically.

Objective To investigate the variability in biochemistry in cerebral palsy children who accepted rehabilitation exercise. Methods From March to November, 2015, 24 children with cerebral palsy were measured the levels of hemoglobin, creatine kinase and blood urea before treatment. They all accepted routine rehabilitation exercise, and were measured hemoglobin, creatine kinase and blood urea again one week after treatment as the load increased, and six weeks after treatment at the end of exercise. They were assessed with Gross Motor Function Measure (GMFM-88) before and six weeks after treatment. Results The scores of GMFM-88 improved after treat-ment (t>7.12, P<0.001). Hemoglobin decreased (P<0.01), while creatine kinase and blood urea increased one week after treatment (P<0.01). Hemoglobin and blood urea came back to the levels before treatment six weeks after treatment (P?0.05), while creatine kinase reduced (P<0.01), but was still more than that before treatment (P<0.01). Conclusion Hemoglobin, creatine kinase and blood urea may respond the train-ing situation of cycle and the stage of exercise, and indicate the effects of load in the cerebral palsy children accepted rehabilitation exercise.

Objective To observe the effects of neuromuscular activation (Neurac) training on balance and walking in children with hemiplegic cerebral palsy. Methods 30 children with hemiplegic cerebral palsy from March to October, 2015 were divided into observation group (n=15) and control group (n=15). Both groups received routine rehabilitation, while the observation group received 30-minute Neurac training in addition, 5 times a week, for 3 months. They were assessed with D and E domains of Gross Motor Function Measure 88 (GM-FM-88), balance of Fugl-Meyer Assessment and footprints analysis before and after treatment. Results The scores of D and E domains of GMFM-88 and balance of Fugl-Meyer Assessment, and the step length, step width and velocity improved in both groups after training (t>7.31, P<0.001), especially in the observation group (t>2.08, P<0.05). Conclusion Neuroac training can further promote the recovery of gross motor function, balance and walking in children with hemiplegic cerebral palsy.

As the urgent need of both clinic and research,the identification of hypertonia subtypes is becoming more and more important. Hypertonia assessment tool is a standardized discriminative measure with good reliability and validity. Hypertonia assessment tool can identify paediatric hypertonia subtypes. For its easily learning,it can be easily generalized in clinician.

Objective To investigate the neuroprotective effect of granulocyte colony stimulating factor (G-CSF) combined with behavior training on the learning and memory abilities of cerebral ischemic injury in rats. Methods 96 Wistar rats, 2 months old, were divided as sham group (group A), model group (group B), G-CSF group (group C) and G-CSF+training group (group D). Modified middle cerebral artery occlusion (MCAO) was used to establish a ischemia 2 h/reperfusion 24 h model to all the rats, except sham group. 6 rats were selected in each group 1, 2, 4 and 8 weeks after successfully modeled, respectively. The abilities of learning and memory were detected with the latency of shuttle test video analysis system. The pathology of the hippocampus and the expression of nerve growth factor (NGF) and G-CSF were observed with HE and immunohistochemistry staining, respectively. Results The expression of NGF and G-CSF increased in group B transiently, and increased more and longer in the group C and D, especially in group D, as the time passed (P<0.05). The latency of shuttle test increased in group B, C and D, and gently decreased as the time passed, and the decrease more to less were group D, C and B (P<0.05).Conclusion The neuroprotective effects of G-CSF combined with behavior training are strengthened and long term beneficial than G-CSF alone.

Objective To study the validity of Dynamic Occupational Therapy Cognitive Assessment for Children (DOTCA-Ch) on the cognitive function of children with cerebral palsy. Methods 30 children with cerebral palsy were assessed with DOTCA-Ch and Chinese Binet Test of Intelligence by trained rehabilitation medicine graduates within 1 week. The correlation between these tests were analyzed. Results The total DOTCA-Ch scores, spatial orientation and thought operation function were strongly correlated with IQ, while spatial perception,praxis and optomotor tissue were slightly correlated with IQ. Conclusion DOTCA-Ch can comprehensively assess the cognitive function of children with cerebral palsy.