With the development of genomics and the accomplishments of human genomic sequencing, polymorphic markers and their analytic approaches are more and more important, and much attention has been paid to the fact that the analysis of single nucleotide polymorphisms utilizing matrix-assisted laser desorption/ionization time-of-flight mass spectrometry(MALDI-TOF MS) is a high-throughput approach. MALDI-TOF MS can also mini-sequence and genotype short tandem repeat. The approaches to analyzing single nucleotide polymorphisms are primer oligonucleotide base extension, ligase reaction, peptide nucleotide acid, invader assay, and so on.
Genotype ; Humans ; Microsatellite Repeats ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Reproducibility of Results ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; methods

The infection of Hepatitis B virus (HBV) can result in severe consequences, including chronic hepatitis, liver fibrosis, cirrhosis, and even liver cancer. Effective antiviral treatment has the potential to slow down the progression of the disease. HBV serum biomarkers play a crucial role in the dynamic management of chronic hepatitis B (CHB) patients. However, the conventional hepatitis B virus markers, such as hepatitis B serologic testing and HBV DNA, are insufficient to meet the clinical requirements. This review provided a comprehensive overview of the current research on the quantification of HBsAg and anti-HBc, HBV RNA and HBV core-associated antigen, which summarized the crucial role these markers play in the administration of antiviral medications, predicting the efficacy of treatment and anticipating the likelihood of virologic rebound following drug cessation, as well as assessing disease progression in CHB patients.
Humans ; Hepatitis B virus/genetics* ; Clinical Relevance ; Hepatitis B, Chronic/drug therapy* ; Hepatitis B Core Antigens/therapeutic use* ; Biomarkers ; Liver Cirrhosis/drug therapy* ; Antiviral Agents/therapeutic use* ; Hepatitis B Surface Antigens/therapeutic use* ; DNA, Viral/therapeutic use* ; Hepatitis B e Antigens/therapeutic use* ; Hepatitis B/drug therapy*

Epilepsy is a group of disorders characterized by recurrent seizures. The etiologies of idiopathic epilepsy commonly have a genetic basis. Gene mutations causing several of the inherited epilepsies have been mapped. In this review, the authors summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability and gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function.
Epilepsy ; genetics ; Humans ; KCNQ2 Potassium Channel ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins ; genetics ; Potassium Channels ; genetics ; Potassium Channels, Voltage-Gated ; Receptors, Nicotinic ; genetics ; Research ; trends ; Research Design ; Sodium Channels ; genetics ; Voltage-Gated Sodium Channel beta-1 Subunit

To date, nearly 28 distinct genetic loci of autosomal dominant cerebellar ataxias have been identified, among them 18 disease-causing genes have been cloned. Of these, Machado-Joseph disease (MJD), also named as spinocerebellar ataxia type 3 (SCA3), is perhaps the most common subtype among different races and origins in the world. It is a neurodegenerative disease caused by the expansion of a CAG repeat in the coding region of the MJD1 gene, with obvious clinical and genetic heterogeneity. In this review, authors covered the recent advances in molecular genetic of SCA3/MJD.
Ataxin-3 ; Humans ; Machado-Joseph Disease ; genetics ; Molecular Biology ; Mutation ; Nerve Tissue Proteins ; chemistry ; genetics ; metabolism ; Nuclear Proteins ; chemistry ; genetics ; metabolism ; Repressor Proteins ; chemistry ; genetics ; metabolism

Pain management plays a fundamental role in enhanced recovery after surgery pathways. The concept of multimodal analgesia in providing a balanced and effective approach to perioperative pain management is widely accepted and practiced, with regional anesthesia playing a pivotal role. Nerve block techniques can be utilized to achieve the goals of enhanced recovery, whether it be the resolution of ileus or time to mobilization. However, the recent expansion in the number and types of nerve block approaches can be daunting for general anesthesiologists. Which is the most appropriate regional technique to choose, and what skills and infrastructure are required for its implementation? A multidisciplinary team-based approach for defining the goals is essential, based on each patient's needs, and incorporating patient, surgical, and social factors. This review provides a framework for a personalized approach to postoperative pain management with an emphasis on regional anesthesia techniques.

OBJECTIVETo investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT).

METHODSMutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients.

RESULTSA missense mutation of 1346(G>C) in exon 11, which was a homozygotic mutation, was identified in one patient; a nonsense mutation of 610 (G>T) in exon 6 combined with a missense mutation of 6679 (C>T) in exon 47, which was a compound heterozygotic mutation, were identified in the other patient. They were co-segregated with the disease and were localized within the functional domain of ATM gene.

CONCLUSIONTotally three novel ATM gene mutations were identified in two Chinese AT patients.

Ataxia Telangiectasia Mutated Proteins ; Base Sequence ; Cell Cycle Proteins ; genetics ; Child ; China ; Codon, Nonsense ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Gene Frequency ; Humans ; Male ; Mutation ; Mutation, Missense ; Protein-Serine-Threonine Kinases ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Spinocerebellar Ataxias ; genetics ; Tumor Suppressor Proteins ; genetics

At present, the incidence of Parkinson's disease (PD) is gradually increasing. This seriously affects the quality of life of patients, and the burden of diagnosis and treatment is increasing. However, the disease is difficult to intervene in early stage as early monitoring means are limited. Aiming to find an effective biomarker of PD, this work extracted correlation between each pair of electroencephalogram (EEG) channels for each frequency band using weighted symbolic mutual information and k-means clustering. The results showed that State1 of Beta frequency band ( P = 0.034) and State5 of Gamma frequency band ( P = 0.010) could be used to differentiate health controls and off-medication Parkinson's disease patients. These findings indicated that there were significant differences in the resting channel-wise correlation states between PD patients and healthy subjects. However, no significant differences were found between PD-on and PD-off patients, and between PD-on patients and healthy controls. This may provide a clinical diagnosis reference for Parkinson's disease.
Humans ; Parkinson Disease/diagnosis* ; Quality of Life ; Cluster Analysis ; Electroencephalography ; Healthy Volunteers

Objective     To analyze the etiologies, surgical treatment and outcomes of retrograde type A aortic dissection (RTAD) after thoracic endovascular aortic repair (TEVAR) for Stanford type B aortic dissection. Methods     The clinical data of patients with RTAD after TEVAR for Stanford type B aortic dissection receiving operations in Changhai Hospital from March 2014 to August 2018 were analyzed. All patients were followed-up by clinic interview or telephone. Results     A total of 16 patients were enrolled, including 13 males and 3 females with a mean age of 49.1±12.2 years. The main symptoms of RTAD were chest pain in 12 patients, headache in 1 patient, conscious disturbance in 1 patient, and asymptomatic in 2 patients. All the 16 patients received total arch replacement with the frozen elephant trunk technique. Bentall procedure was used in 2 patients, aortic root plasticity in 10 patients and aortic valve replacement in 1 patient. The primary tear in 10 patients was located in the area which were anchored by bare mental stent, and in the other 6 patients it was located in the anterior part of ascending aorta. The mean cardiopulmonary bypass time was 152.2±29.4 min, aortic cross-clamping time was 93.6±27.8 min and selective cerebral perfusion time was 29.8±8.3 min. There was no death in hospital or within postoperative 30 days. The follow-up period was 32-85 (57.4±18.3) months. No death occurred during the follow-up period. One patient underwent TEVAR again 3 years after this operation and had an uneventful survival. Conclusion     Total arch replacement with the frozen elephant trunk technique is a suitable strategy for the management of RTAD after TEVAR for Stanford type B aortic dissection.

Esophageal cancer is an aggressive malignancy with high morbidity and poor prognosis. Symptoms of early esophageal cancer are insidious and difficult to detect, while advanced esophageal obstruction, lesion infiltration and metastasis seriously affect patients’ quality of life. Early detection and treatment can help to increase the survival chance of patients. Recently, artificial intelligence (AI) has shown remarkable success in diagnosis of esophageal cancer, highlighting the great potential of new AI-assisted diagnostic modalities. This paper aims to review recent progress of AI in the diagnosis of esophageal cancer and to prospect its clinical application.

The shoulder joint is the most prone to dislocation in the whole body, and more than 95% of them are anterior dislocation. Improper treatment after the initial dislocation is easy to lead to recurrent anterior dislocation or anterior shoulder instability, and the outcomes following conservative treatment is poor. Anterior shoulder instability can damage the soft tissue structure and bone structure that maintain the stability of shoulder joint, among which bone structure is the most important factor affecting the stability of shoulder joint. Diagnosis should be combined with medical history, physical examination, and auxiliary examination. Currently, three-dimensional CT is the most commonly used auxiliary examination means. However, various bone defect measurement and preoperative evaluation methods based on three-dimensional CT and the glenoid track theory have their own advantages and disadvantages, and there is still a lack of gold standard. Currently, the mainstream treatment methods mainly include Bankart procedure, coracoid process transposition, glenoid reconstruction with free bone graft, Bankart combined with Remplissage procedure, and subscapular tendon binding tamponade, etc. Each of these procedures has its own advantages and disadvantages. For the diagnosis and treatment of anterior shoulder instability, there are still too many unknown, further research and exploration need to be studied.
Humans ; Shoulder Joint/surgery* ; Shoulder Dislocation/surgery* ; Shoulder ; Joint Instability/surgery* ; Scapula ; Joint Dislocations ; Recurrence ; Arthroscopy/methods*