Jian-Xiang Liao

Shenzhen Children's Hospital · pediatric neurology & epilepsy center

Lysosomal pH is an important indicator for the physiological state of eukaryotic cells. The real-time detection of intracellular lysosomal pH is critical for understanding and studying many physiological and pathological processes of cells. Herein, we designed and synthesized a series of novel pH sensors, namely W1, W2 and W3. By comparing the spec...

Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal of treatment is to minimize the neurological damage caused by hyperammonemia. OTCD can be cured by liver transplantation (LT). Post-transplant patients can discontinue anti- hyperammonemia agen...

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...

The concentration of potassium ion is an important indicator for human health, and its abnormality is often accompanied by various diseases. However, most tools currently used to study potassium ion transport are low throughput. Herein, we reported a new K⁺ fluorescent nanoprobe CP1-KS with high selectivity and sensitivity to K⁺ (fluorescence enhan...

In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and...

Compressed Sensing (CS) and parallel imaging are two promising techniques that accelerate the MRI acquisition process. Combining these two techniques is of great interest due to the complementary information used in each. In this study, we proposed a novel reconstruction framework that effectively combined compressed sensing and nonlinear parallel...

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...

Objective: Epilepsy is a chronic disease that places a heavy burden on caregivers. Previous studies have shown that caregivers of epilepsy patients often experience anxiety and depression; however, few comprehensive studies have assessed their sleep quality and family function. Based on the current understanding of the anxiety and depression state...

Compressed Sensing (CS) and parallel imaging are two promising techniques that accelerate the MRI acquisition process. Combining these two techniques is of great interest due to the complementary information used in each. In this study, we propose a new reconstruction framework for dynamic cardiac imaging that takes advantage of both CS-based dynam...

Dysfunction of potassium ion (K⁺) channels are closely related to various diseases, while the current tools for studying K⁺ channels are indirect methods that cannot measure the flux of K⁺ in live cells. Herein, we prepared K⁺ fluorescent nanoprobes (KFK-Cat NPs) with appropriate dissociation constant (Kd) value (127 mM K⁺) and excellent stability,...

Synopsis Predicting epilepsy drug treatment outcome is important for treating children with tuberous sclerosis complex (TSC). Here, the best performing model was selected to explore the contribution of the features, using permutation importance (PIMP). An approach similar to PIMP was used to compare the magnetic resonance imaging (MRI) and non-MRI...

Objective: To delineate the comprehensive clinical features of anti-GQ1b antibody syndrome in childhood. Methods: The clinical data of children diagnosed with anti-GQ1b antibody syndrome at two Chinese tertiary pediatric neurology centers were collected and analyzed. We also conducted a systematic literature review on anti-GQ1b antibody syndrome in...

Infantile hypertonic myofibrillar myopathy is characterized by the rapid development of rigid muscles and respiratory insufficiency soon after birth, with very high mortality. It is extremely rare, and only a few cases having been reported until now. Here we report four Chinese infants with fatal neuromuscular disorders characterized by abdomin...

Highly selective fluorescent K+ sensors are of great importance for monitoring K+ fluctuations in various biological processes. In particular, highly efficient ratiometric K+ sensors that can emit in dual wavelengths and facilitate the quantitative determination of K+ are highly anticipated. Herein, we present the first polymer-based ratiometric fl...

There are many factors may affect human health, such as diseases and par-asite infections. When scientists are fighting viruses, bacteria and parasites, they need to observe the influence on cells. By using the traditional method to identify cells, the test results may have errors because of human factors. One image processing technology together w...

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 Hospita...

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 anal...

Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters...

Background Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS) is the most common form of idiopathic epilepsy in children, accounting for up to 23% of pediatric epilepsy. The pathogenesis of BECTS is unknown, but it is thought that genetic factors play a role in susceptibility to the disease. Methods To investigate the role of common gen...

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across c...

Abstract Parallel magnetic resonance imaging (MRI) technique is able to accelerate MRI speed for reducing costs and enhancing patient’s comfortability. Parallel MRI can be categorized into two types: image-based and k-space-based methods. For k-space-based parallel MRI, missing k-space data is reconstructed by interpolating existing acquired k-spac...

Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics o...

Background Recent clinical observations have reported the potential benefit of vagus nerve stimulation (VNS) as an adjunctive therapy for pediatric epilepsy. Preliminary evidence suggests that VNS treatment is effective for seizure reduction and mental development in young participants between 3 and 6 years of age who suffer from intractable epilep...

Abstract Background Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date have come from small studies and case reports, and very little is known about TAND in adults. We explored baseline TAND data from the large-scale international TOSCA natural history study to compare childhood and adult patterns, describe age-based pattern...

To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MBs). We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, qPCR (real-time quantitative polymerase chain reaction), IHC (immunohistochemistry), and WB (Western blot) were used to analyze the changes in the NF2 gen...

Comparison of thermal performarce for low-temperature power generation system with transcritical Rankine cycle using R41 and CO2 was carried out.The results showed that for CO2 and R41 there is an optimum inlet pressure that the thermal efficiency will reach the maximum at the same inlet temperature.The higher turbine inlet pressure,the greater its...

AIM To investigate whether patients with refractory epilepsy and healthy infants differ in gut microbiota (GM), and how ketogenic diet (KD) alters GM. METHODS A total of 14 epileptic and 30 healthy infants were recruited and seizure frequencies were recorded. Stool samples were collected for 16S rDNA sequencing using the Illumina Miseq platform. T...

In order to reduce the dependence on experiments in the combined adjustment of multi-row variable inlet guide vane and stators in a multistage axial-flow compressor, an optimization design platform was constructed by Isight software, HARIKA algorithm and some self-compiled interface programs. This optimization design platform quantified the distanc...

This multicenter clinical trial was conducted to examine current practice of benign epilepsy with centrotemporal spikes and especially address the question that in what circumstances 1 antiepileptic drug (AED) should be preferred. Twenty-five medical centers participate in this clinical trial. The general information, clinical information, and trea...

Five types of supercritical carbon dioxide power generation cycle were analyzed, namely, simple recuperative cycle, recompression cycle, partial cooling cycle, pre-compression cycle and subsection expansion cycle. Under the same operating parameters, the thermal efficiencies of the cyclic systems above mentioned were analyzed and compared. It has b...

Objective: To investigate the changes in brain injury after the induction chemotherapy in children with acute lymphoblastic leukemia (ALL) by cranial MRI. Methods: The clinical data and cranial MRI results of 62 children with ALL who were hospitalized from March 2014 to June 2015 were analyzed retrospectively. Results: Before chemotherapy, MRI...

Purpose: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (Th17/Treg) levels in children with IE and age-matched healthy controls following KD. Method: Circulating levels of Th17/Treg cells...

The Ketogenic Diet (KD) has been used in treatment of epilepsy in mainland China since 2004. Clinical indications of KD include: Glucose Transporter Type 1 (GLUT-1) deficiency, Pyruvate Dehydrogenase Deficiency (PDHD, myoclonus-astatic epilepsy (Doose syndrome), tuberous sclerosis complicated with or without epilepsy, Rett syndrome, Dravet syndrome...

To study the alterations of follicular T helper cells (CD4(+)CXCR5(+)Tfh cells, Tfh) on circulating T lymphocytes in children with asthma, and to study the expression of transcription regulatory factors BCL-6 and BLIMP-1 mRNA. Sixty-four children with asthma and 25 healthy controls were enrolled in this study. On the basis of the disease, the child...

To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations. The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatogra...

Oxcarbazepine (OXC) is a promising alternative for patients who cannot tolerate carbamazepine. Recently, however, it has been reported that OXC-induced cutaneous adverse drug reactions (cADRs) are prevalent and may lead to drug discontinuation. Additionally, these reactions are thought to be associated with HLA-B*1502. This study aims to investigat...

To assess the feasibility of high-resolution melting (HRM) analysis for screening patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Based on previous studies on SLC25A13 gene in Chinese patients with NICCD, four hotspot mutations (851del4, 1638ins23, IVS6+5G>A and IVS16ins3kb) were selected. Results of the HRM ana...

To evaluate the efficacy and safety of aripiprazole in the treatment of children with Tourette syndrome. A prospective, multi-center, controlled clinical trial was conducted in 195 children aged 5-17 years with Tourette syndrome. The patients were assigned to two groups: aripiprazole group (n=98) and tiapride group (n=97), with the treatment dosage...

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing. Twenty children diagnosed as NICCD we...

To investigate the pathogenesis, clinical characteristics and treatment of benign infantile convulsions with mild gastroenteritis (BICG). The clinical manifestations and laboratory findings were observed in 40 children with BICG. The antigen and antibodies of rotavirus and calicivirus in stool and cerebral spinal fluid (CSF) were tested by the gold...

CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia. The clinical data of 2 cases were analyzed. The MMACHC gene mutation was det...

To evaluate of the efficacy and safety of adjunctive levetiracetam (LEV) in children younger than 4 years with refractory epilepsy. One hundred and twelve children at age of 4 months to 4 years with refractory epilepsy received LEV as adjunctive therapy. LEV was administered in two equal daily doses of 10 mg/kg. The dose was increased by 10 mg/kg e...

To investigate the treatment outcome and risk factors for intractable seizures in children with tuberous sclerosis complex(TSC)complicated by epilepsy. The medical data of 66 cases of TSC were retrospectively studied. Of the 66 children with TSC, 47 cases were available for follow-up. The follow-up period ranged from 7 months to 9.3 years (average...

To compare the efficacy of valproic acid (VPA) and lamotrigine as a monotherapy for absence epilepsy in children. A randomized, open-label design was used. Childhood absence epilepsy was diagnosed based on the presence of typical seizures and video-EEG findings. Eligible patients were randomly treated with VPA or lamotrigine. All patients were foll...

To study the features of interictal epileptiform discharges (IED) during sleep and wakefulness in children with epilepsy. The polysomnography, active EEG and video EEG were performed on 48 children with epilepsy during the whole night, and wakefulness of pre- and post-sleep. The epileptiform sharp/spike discharge indexes during sleep and wakefulnes...

P-glycoprotein 170 (P-gp) is a plausible biologic candidate for pharmacoresistance in epilepsy. The expression and efflux efficiency of P-gp is influenced by a polymorphism (C3435T) in the encoding gene (MDR1). The CC genotype at the MDR1 C3435T polymorphism was reported to be associated with the response to antiepileptic drug treatment. This study...

Objective: Lennox-Gastaut syndrome (LGS) is a refractory epilepsy in children. Some are accompanied by electrical status epilepticus during sleep (ESES) rendering treatment more difficult. This study examined the short-term effect of intravenous methylprednisolone (MP) pulse therapy on LGS with ESES. Methods: Twenty-two children with LGS, who were...

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)...

Mechanisms underlying tolerance to and dependence on anticonvulsant effect of clonazepam are not clear. With in situ hybridization we found CRH mRNA expression increased significantly at paraventricular hypothalamic nucleus in amygdala-kindled rats which had developed tolerance to the anticonvulsant effect of clonazepam, and on day 7 of clonazepam...