Dravet syndrome is a rare and severe developmental epileptic encephalopathy with variable clinical phenotypes.Dravet syndrome is difficult to diagnose and treat, and related comorbidities have a profound impact on the long-term quality of life of patients and their parents.SCN1A is the main pathogenic gene of Dravet syndrome, and SCN1A mutations are found in more than 85% of the patients.In recent years, with the development of genetic testing technology and the accumulation of cases, the understanding of the characteristics of epileptic seizures, comorbidities and SCN1A gene mutation characteristics in Dravet syndrome has gradually deepened.In addition to conventional antiepileptic drugs, new antiepileptic drugs(cannabidiol, fenfluramine)have also shown good antiepileptic effects and are expected to become second-line drugs for the treatment of Dravet syndrome seizures.This article mainly reviews the research progress of unique clinical phenotype, SCN1A gene mutation characteristics and new antiepileptic drugs of Dravet syndrome, in order to deepen clinicians′ understanding of the disease.

Abnormal expression and dysfunction of voltage-gated Calcium channels (VGCCs) can give rise to a variety of neurological disorders in children, including epilepsy, migraine and ataxia.In the past, only CACNA1A, CACNA1H, CACNA2D2 and CACNB4 were considered associated with epilepsy in children.In recent years, an increasing number of VGCCs gene associated with epilepsy in children have been found, especially developmental and epileptic encephalopathy genes.This study aims to review the research progress of VGCCs gene mutations associated with epilepsy in children.

Metabolomics analyzes the physiological or pathological states of an organism by evaluating small molecules in various biological fluids or tissues. The early diagnosis, differentiation and evaluation of pituitary adenoma are difficult and lack of special biological markers. In recent years, in order to search for specific biological markers and their molecular biological mechanisms, many scholars have applied a variety of metabolomics analysis techniques to study the metabolites in the pathological tissues of pituitary adenoma and the serum, urine and other biological fluids of the patients. This paper reviews the progress and achievements of metabolomics in pituitary adenoma.

Pericytes are a kind of microvascular parietal cells, which constitute neurovascular units together with neurons, astrocytes, microglia, vascular endothelial cells and vascular smooth muscle cells to maintain the basic function of the brain. Pericyte dysfunction can lead to cerebral microcirculation dysfunction, which is related to the occurrence and development of a variety of nervous system diseases. This article reviews the characteristics, identification and subtypes of pericytes, their relations with cerebral microcirculation, and their correlation with central nervous system diseases.

Microglia are the main immune cells of the central nervous system and an important part of neurovascular unit (NVU). Together with endothelial cells, pericytes, vascular smooth muscle cells, astrocytes and neurons, microglia form NVU. They play an important role in maintaining the integrity of blood-brain barrier (BBB), regulating cerebral blood flow (CBF) and maintaining basic brain function. Neuroinflammation mediated by microglia can lead to cerebral circulation disorder, which is related to the occurrence and development of a variety of nervous system diseases. This paper reviews the characteristics and subtypes of microglia, the relations of microglia with brain microinflammation and cerebral microcirculation, and the correlation of microglia with central nervous system diseases.

In surgery of patients with hypertensive intracerebral hemorrhage, precise positioning and minimally invasive operation provide a strong guarantee for overall curative effect. As an emerging visualization software, 3D-Slicer can optimize surgical approach, achieve precise intraoperative positioning, and accurately measure hematoma volume to guide treatment plan implementation. This article reviews the application of 3D-Slicer in surgery of patients with hypertensive intracerebral hemorrhage.

Pituitary neuroendocrine tumors (PitNETs) are benign tumors arising from the adenohypophysis and can destroy the surrounding dura mater and invade adjacent structures. Dural invasion, as an important biological manifestation of PitNETs invasiveness and an important basis for PitNETs pathological classification, has become an important part in invasive study of PitNETs. In this paper, the research progress of dural invasion of PitNETs carried out at home and abroad in recent years has been reviewed from aspects of anatomical structure, imaging manifestations and histopathology, and the latest results of dural invasion in PitNETs invasion are summarized.

Gallbladder carcinoma is the most common malignant tumor of the biliary tract system. It is characterized by atypical early clinical manifestations, rapid progress and poor prognosis. There is no specific marker for gallbladder cancer, and its preoperative diagnosis mainly relies on imaging examination, while pet-ct is more advantageous in detecting the metastasis of locally advanced gallbladder cancer. Surgical treatment is still the main treatment, but most patients have lost the opportunity of surgical resection by the time of treatment. In recent years, there have been a lot of researches on the diagnosis and treatment of gallbladder cancer at home and abroad. This paper reviews the diagnosis and treatment of gallbladder carcinoma.

Objective:To explore the predictive value of platelet-albumin-bilirubin(PALBI)score for tumor recurrence after liver transplantation(LT)in patients with hepatocellular carcinoma(HCC).Methods:Clinical data were retrospectively reviewed for 102 HCC patients undergoing LT from January 2010 to December 2020.The predictive value of PALBI score for tumor recurrence after LT and the risk factors for tumor recurrence after LT were examined by receiver operating characteristic(ROC)curve, Kaplan-Meier method and univariate/multivariate Cox regression.Results:The optimal cutoff value of preoperative PALBI score for predicting recurrence was -3.82 with ROC curve, Youden's index 0.317 and area under the ROC curve 0.679.Survival analysis was performed using a PALBI cutoff value of -3.82 as boundary group.The results showed that significant differences existed in 1/3/5-year tumor recurrence rates(17.9% vs.50.0%, 26.9% vs.62.5%, 29.5% vs.62.5%)after low PALBI and high PALBI( P<0.05 for all). Univariate analysis indicated that preoperative tumor maximal diameter, tumor number, Milan criteria, alpha fetoprotein(AFP)level, microvascular invasion, portal venous tumor thrombus, and PALBI score were significantly associated with postoperative tumor recurrence( P<0.05 for all). And multivariate analysis revealed that Milan criteria, AFP level and PALBI score were independent risk factors for postoperative tumor recurrence( P<0.05). Conclusions:Preoperative PALBI score offers some predictive value for postoperative tumor recurrence in HCC patients post-LT.When preoperative PALBI score ≥-3.82 in HCC patients, postoperative tumor recurrence rate is relatively high.

Hilar cholangiocarcinoma(HCCA) is a hotpot and a difficult point in the field of hepatobiliary surgery. HCCA is the most common type of cholangiocarcinoma and is characterized by atypical early clinical manifestations, rapid progression and poor prognosis. There is no specific marker for HCCA and its preoperative diagnosis and evaluation mainly relies on imaging examination. Surgical treatment is still the main treatment, but most patients have lost the opportunity of surgical resection by the time of treatment. In recent years, a large number of studies have been conducted on the diagnosis and treatment of HCCA at home and abroad, and the efficacy of HCCA has been improved. Perioperative management, including the selection of preoperative drainage and perioperative chemoradiotherapy and others, improved postoperative survival. Among them, the application of preoperative radiotherapy and chemotherapy in the field of liver transplantation has achieved quite good results. Targeted therapy and immunotherapy have provided new treatment methods for HCCA. This paper reviews the diagnosis and multimodal treatment of HCCA.