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Multiple sclerosis (MS) is a demyelinating disease of central nervous system, which often affects ocular region and causes structural and functional changes of eyes. Therefore, there have been plenty of researches on the alteration of motor and structures of eyes by MS. This paper reviews and summarizes the progress of MS-related changes of ocular motor, cornea, structure and blood flow of retina, and optic nerve, and may provide a new insight for related clinical researches. (Chin J Ophthalmol, 2020, 56: 711-715) .

Zirconia material has a color closer to human natural teeth, and has excellent mechanical properties and good biocompatibility, therefore it is expected to become an ideal material for dental implants. In order to improve the osteogenic properties of zirconia implants, a variety of surface treatment techniques emerge in two categories: non-coating method and coating method. Different surface treatment technologies have their advantages and disadvantages. In this paper, the recent progress of zirconia surface treatment technology is reviewed.

Objective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. Methods: The clinical data of 2 children with HHT who were admitted to Beijing Children's Hospital, Capital Medical University from February 2017 to June 2018 were retrospectively analyzed. Meanwhile, the relevant papers published before December 2019 in Wanfang and Pubmed database were searched with the key words of "hereditary hemorrhagic telangiectasia" in Chinese and English, and reviewed. Results: The first case was an 11-year-old boy, presented with fever and cough for 6 days. His past history revealed 3 times of left pneumonia and mild epistaxis. Ultrasound of the chest soft tissue found hemangioma and vascular malformation. Enhanced CT with vascular reconstruction suggested pulmonary arteriovenous malformation and multiple arteriovenous fistulas in the liver. After being treated with interventional pulmonary arteriovenous fistula embolization, his condition improved. The second case was a 12-year-old girl, presented with iron deficiency anemia during the past 3 years. Endoscopic resection of polyps had been performed before due to multiple polyps in the colon. High-resolution lung CT revealed multiple ground-glass nodules in bilateral lungs. Ultrasound of the digestive tract suggested small intestine polyps and secondary chronic loose intussusception. After admission, small bowel intussusception reduction was performed, and the polyps were ligated. Her whole exon gene testing suggested SMAD4 heterozygous variation. In the large number of reported cases, HHT1 and HHT2 are the main type. Conclusions: Children with HHT may present with anemia and repeated intestinal polyps. It is worth noting that visceral arteriovenous malformations, such as pulmonary arteriovenous malformations, which is easily misdiagnosed as recurrent pneumonia, can also occur in children with HHT. Enhanced CT with vascular reconstruction can help find pulmonary arteriovenous malformation, and timely genetic test can confirm the diagnosis.

Objective: To study the clinical characteristics and current treatment of neonatal capillary malformation-arteriovenous malformation (CM-AVM). Methods: Clinical data of a newborn diagnosed with neonatal CM-AVM caused by RASA1 gene variation admitted to Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine was retrospectively analyzed, and related literature was reviewed. Databases of CNKI, WanFang, and Pubmed were searched for the literature from January 1, 2009 to December 31, 2018, with the keywords of "capillary malformation-arteriovenous malformation" "neonatal" and "RASA1 gene" . The clinical features of neonatal CM-AVM were summarized. Results: A one-day-old male infant was admitted to hospital due to swelling of both lower extremities with erythema with elevated skin temperature, who later presented with acute heart failure on the third day of hospitalization. A giant spinal arteriovenous fistula was identified by abdominal contrast-enhanced computed tomography and digital subtraction angiography. After surgical ligation of two feeding arteries, both heart failure and lower limb swelling improved. Genetic testing detected a novel paternal heterozygous variation of RASA1 gene. Digital subtraction angiography showed that spinal AVM still exist at the age of 6 months, but the heart function was good. A total of 4 cases of neonatal CM-AVM had been reported in 3 papers. According to these 5 cases, the clinical manifestations of neonatal CM-AVM were summarized: multiple dermal capillary malformation (5 cases), limb swelling or head circumference enlargement (5 cases), arteriovenous malformation (5 cases), congestive heart failure (4 cases) and positive family history (5 cases). Conclusions: CM-AVM is a rare disease and could present early in neonatal period. Capillary malformation and congestive heart failure of unknown origin in infants may indicate the existence of CM-AVM, and timely imaging and genetic test will help early diagnosis and treatment, and improve prognosis.

Neuroendocrine neoplasms (NENs) are relatively rare heterogeneous tumors that originate from peptidergic neurons and neuroendocrine cells and have been referred to as "carcinoids" in the past. Although this type of tumor had been previously considered to be indolent tumor with a low degree of malignancy, with the development of medicine and clinical study, researchers found that NENs had the potential to metastasize. They can occur in any part of the body where neuroendocrine cells are distributed and gastro-entero-pancreatic neuroendocrine neoplasms (GEP-NENs) are the most common type of NENs.Due to the improvement of techniques such as endoscopy and imaging, the incidence of rectal neuroendocrine tumors(R-NENs) and the number of related clinical researches have both increased significantly in recent years. Although researches in Chinese and foreign medical centers are mostly retrospective studies of small samples and the efficacies of different treatment methods are still under debating and lack of sufficient medical evidence to support, the diagnosis and treatment of this disease is gradually becoming standardized according to the proposal of corresponding guidelines. The recent advances in the epidemiology, diagnosis and treatment of rectal neuroendocrine neoplasms are reviewed in this paper.

In the implant restoration of aesthetic area, the contour design of restoration has an important influence on the esthetic effect. The shape of subgingival portion of prosthesis, that is, the emergence profile plays an important role in aesthetic effect and health of the soft tissue. There are few studies on the contour design, indications, influencing factors of the emergence profile of the implant prosthesis. Most of the theoretical support for the contour design of implant restorations comes from the natural teeth restoration, but the design of implant and natural teeth restorations is not the same. This paper mainly reviews the design of emergence profile for implant restorations in the esthetic area, and provides and provides reference for clinical doctors.

The outbreak of 2019 novel coronavirus disease (COVID-19) is spreading rapidly. In order to prevent cluster outbreaks, the government strengthened the management and control of personnel mobility, which had a great impact on the examination and treatment of breast cancer patients. This paper discusses how to realize scientific health management of breast cancer patients outside the hospital based on the existing epidemic situation, characteristics of breast cancer patients and public health safety factors. The breast cancer patients should synthetically consider the epidemic prevention situation of inhabitance, the disease stage and previous therapeutic schedule to decide the next therapeutic schedule. If necessary, after professional discussion and communication between doctors and patients online or offline, the hospital visiting time should be delayed through seeking alternative treatment schemes, and psychological counseling for patients should be paid attention to at the same time.

MicroRNA (miRNA) are a class of small non-coding single-stranded RNA that exert their biological effects by binding to target messenger RNA (mRNA). There is new evidence that miRNA may play an important role in regulating the growth and development of mandibular condylar cartilage. In this paper, the production and mechanism of miRNA are reviewed, and the progress of studies on the growth and development of mandibular condylar cartilage, which is helpful to further study the growth and development of mandibular condylar cartilage.

Respiratory support is a very important technique for saving severe 2019-nCoV pneumonia patients who suffering respiratory failure, which can improve oxygenation, reduce mortality. Therefore, how to reasonable using respiratory support technique is the key point that relating success or failure. In this paper, the authors introduce their experience on treating severe 2019-nCoV pneumonia, it is hopeful for current fighting against 2019-nCoV in China.

Objective: To analyze the clinical , immunological and genetic features of a child with BCL11B mutation induced neurodevelopmental disorder. Methods: The clinical data and genetic test of a child with BCL11B mutation hospitalized in the Department of Rheumatology and Immunology in Children's Hospital of Chongqing Medical University in December 2018 were extracted and analyzed. The literature was searched with "BCL11B mutation" and "immunodeficiency 49" as key words in Chinese databases and Pubmed until January 2019 was reviewed. Results: A male patient aged 3 years and 11 months with facial dysmorphisms and delayed language and motor development was admitted due to neurodevelopmental retardation over two years. Laboratory tests showed normal human immunoglobulin (IgG 12.90 g/L, IgA 1.02 g/L, IgM 1.15 g/L, IgE 532 000 U/L), Trec (228) and proliferation of T and B cells. The lymphocyte subsets revealeda reduced percentage of B cells (0.108) but normal absolute numbers (0.574×10(-3)/L), and an increased percentage (0.828) as well as absolute numbers (4.415×10(-3)/L) of T cells. A heterozygous BCL11B mutation was detected by sanger sequencing, showing a de novo frameshift mutation c.1887_c.1893delCGGCGGG in exon 4. Two papers were found which were all in English, with total of 14 patients(13 patients with complete information). Thirteen mutations were reposed, including 7 frameshift, 2 nonsense, 2 missense, and 2 chromosomal rearrangements; Thirteen patients had heterozygous mutations. All patients had delayed language and motor development and facial dysplasia which were mainly hypertelorism, thin eyebrows and small palpebral fissures. Some patients had dental anomalies, ametropia and allergy, and a few were combined with immune impairment, but without overt signs of immunodeficiency. Only one patient had multisystem anomalies and profound immune deficiency. Conclusions: BCL11B is essential for development of the nervous and the immune system. In this study, the de novo mutation of BCL11B gene resulted in neurodevelopmental and immunological disorders.

During a short period of time, the outbreak of pneumonia caused by a novel coronavirus, named Novel Coronavirus Pneumonia (NCP), was first reported in China, spreading to 24 countries and regions rapidly. The number of confirmed cases and deaths continued to rise. World Health Organization (WHO) announced that the outbreaks of the novel coronavirus have constituted a Public Health Emergency of International Concern. Efficient infection control can prevent the virus from further spreading, which makes the epidemic situation under control. Due to the specialty of oral healthcare settings, the risk of cross infection is severe among patients and oral healthcare practitioners. It's more urgent to implement strict and efficient infection control protocols. This paper, based on existing guidelines and published researches pertinent to dental infection-control principles and practices, mainly discusses epidemiological characteristics of NCP and the features of nosocomial infection in oral healthcare settings, and furthermore provides recommendations on patient's evaluation, and infection control protocols in department of stomatology under current circumstance..

With the improvement of people's living standards and oral health education, the demand for orthodontic treatment is increasing. The comprehensive goal of orthodontic treatment is not only to obtain esthetic dentition and appearance, but also to obtain oral health, general health and mental and psychological health. Therefore, how to effectively prevent the risks in orthodontic treatment is particularly important, and it is also an important content that orthodontists must master. In this paper, the prevention of related risks in orthodontic treatment was discussed.

In recent years, more and more female adult patients complained the aesthetic problems such as the decline of face fullness during the treatment. In the course of 2-3 years of orthodontic treatment, the age-related change of the facial bone structure in the adult is limited, and therefore, the shape change mainly depends on the change of the soft tissue. In this paper, the factors such as age-increasing factors, the structural factors of the face,the width of the arch and the change of the occlusal height were analyzed to explore the changes of facial soft tissue and related factors in the treatment with a view to providing a reference for clinical application.

Temporomandibular joint (TMJ) related signs and symptoms are frequently found in adolescent and adult orthodontic patients. TMJ health has long been considered important in orthodontic treatment for many decades, and routine screening and management of TMJ problems should be emphasized in orthodontic population. This paper was to review the TMJ problems in orthodontic patients and to set the strategy in clinical orthodontics.

Objective: To investigate the clinical and genetic characteristics of 3 patients with mucolipidosis and to perform literature review. Methods: A retrospective analysis was made on the clinical data and genetic test results of 3 pedigrees with mucolipidosis. The patients were followed up at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from February 2016 to August 2018. A neonatal inherited metabolic diseases gene panel including GNPTAB, GNPTG, MCOLN1, etc. was used for next-generation sequencing (NGS) based testing. Sanger sequencing was subsequently used to confirm the suspected pathological variants in the patients and their family members. Original papers on mucolipidosis published up to December 2018 were retrieved from PubMed, CNKI and WanFang databases by using the key words "mucolipidosis" AND "Chinese" . Results: The onset ages ranged from (9-90) days. The common clinical characteristics of the 3 patients are developmental delay and skeletal abnormalities. Targeted NGS revealed 5 different variations all in GNPTAB including p.Arg364Ter, p.Ser385Leu, p.Try404Ter, p. Arg587Ter, c.1284+1G>T. Two variants p.Ser385Leu and c.1284+1G>T were novel. Twenty-six cases of mucolipidosis have been reported in Chinese from 8 papers, which included 11 type ML Ⅱα/β, 11 type ML Ⅲ α/β and 4 type ML Ⅲ γ. c.2715+1G>A and p.Arg364Ter variants are likely the hot variants in Chinese ML patients. Conclusions: Mucolipidosis is a rare autosomal recessive disorder characterized by developmental delay and skeletal abnormalities. NGS plus Sanger sequencing detection is effective and accurate for making genetic diagnosis. p.Ser385Leu and c.1284+1G>T of GNPTAB gene are identified as novel pathogenic variants. GNPTAB gene is the main disease causing gene among Chinese ML patients, and c.2715+1G>A and p.Arg364Ter are the most common variants.

Objective: To summarize the clinical characteristics of patients with haploinsufficiency of A20 (HA20). Methods: The clinical manifestations, laboratory examinations, treatment, outcome and genetic analysis of 4 cases with HA20 hospitalized in Peking Union Medical College Hospital were analysed.Further literature review was done after searching articles in PubMed and Wangfang databases with the key words "HA20" "A20 haploinsufficiency" "TNFAIP3" up to the date of September 2019. Results: The 4 patients were a father and a daughter, as well as a mother and a daughter. Their phenotypes were quite variable, but all of them have been suffering from recurrent oral ulcer since childhood. Elevation of C-reactive protein (13-33 mg/L) and erythrocyte sedimentation rate (21-60 mm/1h) were found in these 4 patients, and there was positive antinuclear antibody in proband 1.The father in pedigree 1 and the 2 patients in pedigrees 2 have been diagnosed with Behçet disease and the proband 1 with undifferentiated connective tissue disease. The 2 patients in pedigree 1 have developed Hashimoto's thyroiditis. After gene sequencing analysis, it was found that all the 4 patients have heterozygous nonsense mutations in TNFAIP3 gene, that is, c.811C>T, p.R271X in pedigree 1 and c.133C>T, p.R45X in pedigree 2.The diagnosis of HA20 was eventually established when sequencing results and their clinical manifestations were both compatible with this disease.A total of 21 articles were retrieved, all in English, with a total of 91 cases from 39 families (including the 4 cases reported in this paper). HA20 was reported more often in female (57, 64.8%). Most patients develop symptoms from childhood, but as many as 53.4% (47 cases) are not correctly diagnosed until adulthood. Oral ulcers, genital ulcers, periodic fever, gastrointestinal symptoms, rashes, and arthritis are the primary manifestations.Hashimoto's thyroiditis is the most common autoimmune diseases that HA20 patients coexist with. Laboratory tests were characterized by significantly elevated inflammatory markers and low to moderate titers of autoantibodies in some patients.Most HA20 patients were reported to have nonsense mutations or shift mutations of TNFAIP3 gene, which leads to truncation of A20 protein, and only a small number of patients have missense mutation. In terms of treatment, anti-TNF treatment and anti-interleukin 1 is believed to be an effective and the most optimal therapy. The treatment effect is variable and requires long term observations. Conclusions: The clinical phenotypes of HA20 are complex. For patients with both autoinflammatory and autoimmune characteristics, family history should be inquired in detail and gene sequencing should be performed if necessary.

Orbital blowout fractures can easily lead to defects of the orbital wall. In order to restore the continuity of the bone wall and avoid a series of clinical symptoms caused by orbital contents herniation or incarceration, the site of the defect should be reconstructed. The effect of reconstruction depends on the choice of surgical plan and repair material. The typical materials for bone wall defect repair include bone sheet, high density porous polyethylene, titanium mesh, absorbable polymer, bioactive ceramics and tissue engineering bone. This paper reviews the research findings and application of material for repairing of orbital blowout fracture. (Chin J Ophthalmol, 2019, 55: 876-880) .

Objective: To summarize the clinical features of leukoencephalopathy with vanishing white matter disease (VWM) in children. Methods: A retrospective cohort study was performed on 54 genetically diagnosed VWM patients in Peking University First Hospital from January 2007 to March 2019. Paper registration form and electronic medical record system were used to collect the data,and the children were divided into five groups according to the age of disease onset:<1 year, 1-<2 years, 2-<4 years, 4-<8 years and 8-<18 years respectively. The progression of motor function, episodic aggravation, epileptic seizures, survival time, brain magnetic resonance imaging (MRI) and genotype features were analyzed and compared. Non-parametric test, χ(2) test or Fisher's exact test were used for comparison among groups; Kaplan-Meier survival curve was adopted to delineate the survival status of the children. Results: Fifty-four VWM patients were included in the study, including 34 males and 20 females.The age of disease onset was 2 years and 8 months (ranged from 6 months to 9 years and 7 months). Onset age was less than 1 year in 5 cases; onset age was 1-<2 years in 12 cases; onset age was 2-<4 years in 25 cases; onset age was 4-<8 years, in 10 cases; onset age was 8-<18 years in 2 cases; 94% (51/54) of patients had complaint of motor regression at the first visit; 87% (47/54) of patients suffered from episodic aggravation. Episodic seizures occurred in 43% (23/54) patients. In survivors with disease durations of 1-3 years, in 38% (9/24) patients the disease was classified as grades Ⅳ-Ⅴ by gross motor function classification system (GMFCS). For the onset age 1-<2 years group, 1 patient was classified as GMFCS Ⅳ among 3 survivors with disease durations of 1-3 years. As for the 2-<4 years group, 6 patients were classified as GMFCS Ⅳ-Ⅴ among 15 patients with disease durations of 1-3 years, whereas 1 patient was classified as GMFCS Ⅳ-Ⅴ among 4 patients with disease durations of 1-3 years in the 4-<8 years group. Lesions, liquefaction and diffusion restriction in brain MRI were compared among different groups, and it was revealed that the earlier the age of disease onset was, the more likely the subcortical white matter (frontal lobe P< 0.01,temporal and parieto-occipital lobe both P= 0.002), internal capsule (anterior limb P< 0.01, posterior limb P= 0.00) and brain stem (midbrain P= 0.001, pons P< 0.01) were to be involved. In addition, internal capsule (anterior limb P= 0.002, posterior limb P= 0.005) and brain stem (midbrain P= 0.001, pons P= 0.003) showed more diffuse restricted diffusion. Moreover, the subcortical white matter (frontal and parieto-occipital lobe both P< 0.01, temporal lobe P= 0.005) showed earlier rarefaction. The 1-year and 2-year survival rates of the overall patients were 81% and 75% respectively, while the 15-year survival rate was 45%. EIF2B5 gene variation was the most common, which accounts for 43% (23/54), followed by EIF2B3 (22%, 12/54). Conclusions: The majority of VWM patients complained of motor regression at the first visit, episodic aggravation and epileptic seizures are common in the course. Earlier age at onset is associated with more rapid clinical progression, shorter survival time as well as more extensive lesions, liquefaction and diffusion restriction in brain MRI. The most common variant gene is EIF2B5, followed by EIF2B3.

Depth of invasion is a newly added index for TNM staging of oral cancer in the eighth edition. Preoperative evaluation of depth of invasion not only provides a reference for surgical margin, but also serves as an independent prognostic factor for predicting lymph node metastases. At present, the main methods for assessing the depth of invasion of tongue squamous cell carcinoma include ultrasound examination, MRI, CT, positron emission tomography (PET) and histopathological examination. This paper summarizes the evaluation method and clinical effect of depth of invasion of tongue cancer, and analyzes its advantages and boundedness. In addition, this study is expected to provide a reference for the surgical treatment of tongue squamous cell carcinoma.

Graphene derivatives are the new bioactive material with good physical and chemical properties and excellent biocompatibility. It has been found that graphene derivatives can improve the mechanical properties of biomaterials and promote the adhesion, proliferation and differentiation of osteoblast-related cells, so as to promote implant-bone bonding and repair of bone defects. This makes it a research hotpot in the field of bone tissue regeneration. In this paper, the mechanism of graphene derivatives promoting bone regeneration and their application in the oral field were reviewed, so as to provide theoretical basis for their application in basic and clinical research.

The development of computer hardware allows rapid accumulation of medical imaging data. Deep learning has shown great potential in medical imaging data analysis and establish a new area of machine learning. The commonly used deep learning models were firstly introduced in the paper, and then, summarized with the application of deep learning in the detection, classification, diagnosis, segmentation, identification of medical imaging. The application of deep learning in oral and maxillofacial radiology and other discipline of stomatology was proposed. At the end, the paper discussed the problems of deep learning in medical imaging research.

With the rapid development of global perinatal medicine and neonatal medicine, the survival rate of high-risk neonates (premature, and those who suffer neurologic lesion during or shortly after birth, et al.) improved significantly, however the incidence of cerebral visual impairment (CVI) also rose, which has become the most common cause of visual impairment in children in developed countries. Studies found that visual abnormalities of patients with CVI can be various. Since children's cognition and motor development are inseparable from visual functions, children with CVI are usually characterized by abnormalities in sensory perception, cognition and even movement, other than visual impairment itself. Due to the characteristics of CVI, such as early onset, complex etiology, difficulty in diagnosis and treatment, and involvement with ophthalmology, pediatrics, rehabilitation medicine, genetic epidemiology and other multi-disciplinary content, current domestic research on CVI is limited. From the perspective of ophthalmologist, this paper reviews the progress of ophthalmology diagnosis and treatment in children with CVI in recent years, aiming to have better early recognition and individualized intervention, so as to help pediatrician and rehabilitation physicians to improve survival skills for CVI children and their quality of life. (Chin J Ophthalmol, 2019, 55:469-474) .

Objective: To investigate the translucency parameters (TP) and the color parameters of computer-aided design and computer-aided manufacturing (CAD/CAM) materials for veneer restorations in order to guide clinical practice. Methods: Eleven groups of CAD/CAM materials (A2 shade) were included in this study: IPS e.max CAD HT/LT, IPS Empress CAD HT/LT, Lava(TM) Ultimate HT/LT, VITA SUPRINITY HT/T, VITA ENAMIC HT/T, VITABLOCS Mark Ⅱ, and were named as Group A, B, C, D, E, F, G, H, I, J, K. Each material was designed and milled to disk-shaped specimens (10.0 mm×8.0 mm×0.7 mm) ( n= 6). The specimens were polished with silicon carbide paper and the thickness of specimens were adjusted into (0.60±0.03) mm. The color parameters of specimens were individually measured with the colorimeter against black and white ceramic tiles background to obtain the TP values. The color parameters of the specimens against the composite resin background were also measured and the color differences (ΔE values) between specimens and the A2 shade tab were calculated. Results: One-way ANOVA showed that the translucency parameters of the 11 groups of materials were statistically significant ( F= 253.69, P< 0.05). The ΔE values of CAD/CAM material groups ranged from 1.78 to 4.12 (ΔE values<5.5). Conclusions: The microstructure of CAD/CAM materials and the types of material translucency influence the optical properties. The CAD/CAM materials in this experiment have achieved color matching with the A2 shade tab.

Oral microecosystem comprises the different anatomic microniches of the oral cavity, oral microbiome living in them and the bathing fluid, saliva. Dynamic balance of the ecosystem plays an important role in keeping human health whereas disease conditions supervene when the microbial equilibrium is broken. Hence, the researchers have focused more attention on it recently. In this paper, the relationship between oral microecological homeostasis and general health was systematically reviewed from such aspects as the composition of oral microecosystem, the effects of its imbalance on oral and general health, and the methods currently used to modulate the oral microecology.

In recent years, the range of indications for dental implants has undergone many modifications and has been widened. In the past, oral lichen planus was regarded as contraindication for the placement of implants. According to recent literature, some patients with oral lichen planus have been selected for dental implantology, indicating comparable implant survival rate to patients without oral lichen planus. Nevertheless, clinical information on this topic is still scarce and evidence-based treatment guidelines are not available. This paper reviews the research progress of dental implant in patients with oral lichen planus, discusses the benefits and risks of implant rehabilitation in this group of patients and proposes treatment recommendations based on existing studies.

World Workshop on the Classification of Periodontal and Peri-implant Diseases and Conditions was held in Chicago on November 9 to 11, 2017. More than one hundred experts from all over the world attended the conference and updated the 1999 classification of periodontal diseases and conditions, and developed a similar scheme for peri-implant diseases and conditions. The case definitions and diagnostic criteria were also established to aid clinicians in the use of the new classification. Nineteen review papers and four consensus reports covering relevant areas in periodontology and implant dentistry were simultaneously published in special issue of Journal of Periodontology and Journal of Clinical Periodontology in June 2018. This paper summarizes the new classification of periodontal and peri-implant diseases and conditions, and briefly introduce the changes made to the 1999 classification.

Objective: To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review. Methods: The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed. Results: The patient was a 15 months old girl with acute onset of bilateral ptosis after upper respiratory tract infection, which was rapidly progressed to systemic myasthenia and accompanied with recurrent respiratory tract infection during the treatment. The patient poorly to responded immunomodulatory therapy and anti-infection therapy. Laboratory tests demonstrated decreased complement C3 and NK cell (CD3(-)CD56(+)), increased anti-thyroglobulin, thyroid peroxidase antibody and B lymphocyte (CD3(-)CD19(+)), and slightly increased anti-acetylcholine receptor antibody. Genetic analysis showed the homozygous variation of ORAI1 gene exon l c.12 G>T (p.E4D), with heterozygostty of both parents. There were only 4 papers reporting this disease in the literature review. A total of 7 patients with ORAI1 gene variation were reported, including 3 homozygous variations, 2 heterozygous variations and 2 complex heterozygous variations. The clinical manifestations included early onset recurrent infection, congenital hypotonia, elevated serum IgA and IgM, decreased NK cells, and family history of hereditary diseases. Four of the 7 reported cases died of pulmonary infection and sepsis, and the other 3 survived with low muscular tone and poor self-care ability. Conclusions: The most common clinical manifestations of ORAI1 variation caused combined immunodeficiency are recurrent infection and congenital hypotonia. Myasthenia induced recurrent respiratory tract infection is an important factor of poor prognosis in severe patients. There is a lack of effective treatment for this disease, and the prognosis is poor.

Esophageal cancer is one of the most prevalent cancers in China. Lymph node metastasis is one of the most important prognostic factors and severely affect the long-term survival after surgical treatment. Therefore, systemic two-field lymph node dissection including thoracic and abdominal draining nodes of the esophagus during surgery is essential in order to improve the long-term survival for the patients with thoracic esophageal cancer, and it is also the basis for precise staging and postoperative adjuvant treatment regimen- making. As reported in the literature, lymph node metastases along bilateral recurrent laryngeal nerve was the highest, therefore, the lymph node dissection along bilateral recurrent laryngeal nerve is the most important manipulation during esophagectomies, however, it is also the most technically difficult procedure during operation. It usually results in postoperative complications especially the respiratory complications due to paralysis of recurrent laryngeal nerves caused by lymph node dissection. Therefore, the gain and loss of lymph node dissection along bilateral recurrent laryngeal nerve has been a disputed and entangle topic for thoracic surgeons, and the purpose of this paper is to summarize author's experience and the key technology to prevent the associated complications in lymph node dissection along recurrent laryngeal nerve during esophagectomies for the patients with thoracic esophageal cancer.

Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed. "ICF syndrome" "immunodeficiency, centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018, and the literature was reviewed. Results: A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year. Laboratory tests showed humoral immune deficiency with IgG<1.34 g/L, IgA<0.060 g/L, and IgM<0.179 g/L, but normal cellular immunity (total T lymphocyte 0.503, hepler T lymphocyte 0.328, cytotoxic T lymphocyte 0.166, natural killer cell 0.184, total B lymphocyte 0.276). Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A>G in intron 8, and a de novo heterozygous missense mutation c.2477G>A in exon 23 of DNMT3B gene. Chromosome karyotype analysis showed 46, XX, with 64 out of 100 karyotypes showing centromere instability in chromosome 1. Five papers were found which were all in English, with total of 29 patients. Forty-three mutations were reported, including 34 missense, 2 deletion, 1 insertion, 6 splice site mutations. Eleven patients had complex heterozygosis mutations. All patients had centromere instability, humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears. Most patients had language and motor development delay, and a few were combined with mental retardation. Conclusions: ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations. De novo mutation of DNMT3B gene is one of etiologies according to genetic test.

Maxillary sinus augmentation is an effective procedure to gain bone height for implant placement in an atrophic posterior maxilla. But maxillary sinus diseases are prevalent in patients scheduled for sinus lift procedures. The presence of these diseases may increase the difficulties in performing the surgery and the risk of developing postoperative complications. This paper summarizes and introduces the common maxillary sinus mucosa diseases related to maxillary sinus augmentation.

With the rapid development of cell biology and biological materials, the dentine-pulp complex regeneration research has gone further. Scaffolds play important roles in the construction of tissue engineered dentine-pulp complex. At present, scaffolds used in dentine-pulp complex regeneration include not only natural biological materials and synthetic biomaterials, but also various composite materials and cell- or body-based carrier materials. In this paper, the latest research status of various scaffolds for dentine-pulp complex regeneration were reviewed. The advantages and problems of these scaffolds were analyzed. The future development direction was predicted.

Non-small cell lung cancer (NSCLC) is one of the malignant diseases with high morbidity, high mortality and poor prognosis in China and worldwide, and the progression of which is significantly related to abnormal angiogenesis. Bevacizumab, a monoclonal antibody targeting vascular endothelial growth factor (VEGF), inhibits angiogenesis during tumor progression. It has been widely demonstrated to improve the survival of NSCLC patients. Therefore, bevacizumab is approved and recommended as the first-line treatment of advanced NSCLC by a number of countries and regions. In this paper, various large-scale clinical trials are analyzed to highlight the current clinical applications of bevacizumab in advanced NSCLC, especially patients with EGFR mutations. In addition, this review focuses on the efficacy, safety and predict factors of bevacizumab as anti-angiogenic therapy, in order to screen the patients who can acquire the maximal benefit.

FimA has been characterized as an important virulence factor for Porphyromonas gingivalis (Pg). These structures play a major role in the mechanisms of adhesion and invasion of Pg to host cells, and can induce cellular activation and cytokines release. FimA can also promote biofilm formation and induce immuno-inflammatory response of host cells. Many studies have characterized FimA to be associated with periodontitis and cardiovascular disease. Pg strains are classified into six types based on divergent nucleotide sequences of the fimA gene (types Ⅰ、Ⅰb、Ⅱ、Ⅲ、Ⅳ andⅤ). The expression of fimbriae is regulated by the fimA gene, which may be the key factor that leads to virulence diversities of Pg, At present, the research on the pathogenesis of FimA mainly focuses on periodontitis and atherosclerosis, which is of great significance for the prevention and treatment of diseases. This paper reviewed the pathogenic effect of FimA in the development of above mentioned two diseases and its application in the prevention.

Root canal treatment of primary teeth is the most common treatment method for pulpitis and periapical periodontitis in pediatric dentistry. Effective root canal treatment could prevent the teeth from occurring of periapical infection or promote the healing of periapical lesions of teeth with periodontitis for preserving the decayed tooth, preventing early loss of primary teeth and inducing the formation of normal permanent dentition. The material selection for root canal filling is one of the most important factors influencing the treatment outcome of root canal treatment. So far, there has been various root canal filling materials used in clinic. This paper summarized the characteristics and clinical applications of currently used root canal filling materials in treatment of primary teeth.

Objective: To report the use of implantable diaphragm pacer (IDP) in a patient with high cervical spinal cord injury(HCSCI). Methods: A 14-year-old male patient, who suffered from a HCSCI at C2 neurological level and had been on a ventilator for 2 years, received IDP in August 2017 at China Rehabilitation Research Center. A systematic literature review was performed on IDP in patients with HCSCI in Pubmed, CNKI, and Wanfang databases, using the keywords: phrenic nerve and electrical stimulation and spinal cord injury; IDP and spinal cord injury; breathing pacemaker system and spinal cord injury. All fields were covered from 1970/01/01 to 2018/01/01 in Pubmed, from 1981/01/01 to 2018/01/01 in CNKI, and from 1900/01/01to 2018/01/01 in Wanfang. Results: No spontaneous breathing was observed preoperatively in the patient. The electrical response of phrenic nerves was intact on the right, but unresponsive on the left. We got started with the IDP at 4 weeks after surgery. The threshold voltage of the right hemidiaphragm pacing was 0.1 V and at the level of 0.7 V with an optimal effect. No significant diaphragmatic contraction was found at left side with the extent up till 0.7 V. The maximum tidal volume was 840 ml when electrical stimulation was given at an intensity of 0.7 V bilaterally. The bilateral stimulation voltage at 0.1-0.2 V, pacing frequencies at 9 beats/min in bed, or at 12 beats/min on wheelchair, were set to maintain the tidal volume at the level of (435±32) ml. After 2-week adaptive training, the patient could wean from the ventilator for 12 hours and had a normal blood gas analysis. At 6 week after surgery, with the aid of IDP, the patient could get out in wheelchair for outdoor activities. By literature review, we found 78 English papers, including 6 clinical trials, 10 reviews, and 11 Chinese papers, consisting of 8 reviews, 1 study in animal, and 2 news reports. Extensive contents, such as preoperative evaluation, preoperative preparation, surgical procedures, complications, surgical outcomes, and animal model studies of IDP were involved. The indications of IDP reported by literature were: (1) central alveolar hypoventilation; (2) Sleep apnea syndrome (Biot's respiration); (3) Respiratory failure induced by brainstem injury or disease; (4) Respiratory failure induced by spinal cord injury or disease above C3 level. Conclusion: Our case study confirmed the therapeutic effect of IDP on patients with respiratory failure caused by HCSCI.

Lemierre syndrome is a rare, potentially fatal condition characterized by internal jugular vein thrombosis following an acute oropharyngeal infection, often accompanied with cervical necrotizing fasciitis. This paper reviews 5 cases of Lemierre syndrome with cervical necrotizing fasciitis, extensive cervical drainage and sufficient antibiotics is crucial treatment for Lemierre syndrome, anticoagulation combined with antibiotics is safe and effective for propagation or nonresolution of the thrombus.

The successful research and application of robotic techniques will promote more dental practitioners to operate robotic simulation systems in various aspects as clinical practice, teaching and scientific research. This paper reviews the history and development of dental robotics in a systematic way. We specifically introduce the application conditions and estimate the future development of dental robotics. Besides, we also foresee the potential impact and change brought by dental robotic techniques.

Objective: To investigate the clinical and genetic characteristics of a Chinese boy with Verheij syndrome and review the literature. Methods: The clinical and genetic data of a Chinese boy with Verheij syndrome, who was admitted to the Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in May 2017 were analyzed. Original papers on Verheij syndrome published up to January 2018 were retrieved at PubMed, Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man(OMIM), CNKI and WanFang databases by using the key words "Verheij syndrome" and "PUF60" . Results: The male patient (at the age of 14 years and 3 months) visited us because of growth retardation for 13 years. Atrial septal defect was repaired at the age 3. Congenital amblyopia and hyperopia were diagnosed at the age 4. On physical examination, serious growth retardation and delayed psychomotor development was noted. His height was 142.5 cm (-3.26 SDS). He had poor academic performance at school. Facial features included: webbed neck, hypertelorism, down-slanting palpebral fissures, long philtrum, thin upper lip, and high palate. Palmar crease was found in the right hand. His bone age was 10 years. Growth hormone stimulation test indicated partial growth hormone deficiency (growth hormone (GH) peak 6.63 μg/L). The level of insulin like growth factor 1 (IGF1) and insulin like growth factor binding protein 3 (IGFBP3) was lower than normal, 73.20 μg/L and 2 500 μg/L respectively. Abdominal ultrasound showed that the volumes of bilateral kidneys were small. The size of the left and right kidney was 8.5 cm × 3.3 cm and 8.4 cm × 4.3 cm respectively. Karyotype was normal (46, XY). MRI of pituitary showed partial empty sella turcica. Ten genes associated with Noonan syndrome (PTPN11, SOS1, RASA2, KRAS, RAF1, NRAS, SHOC2, BRAF, RIT1, A2ML1) were analyzed and no genetic mutations were found. Whole exome-sequencing analysis identified a de novo heterozygous frame shift mutation of PUF60 gene (c.931&#95;934del, P.P.T 311Qfs*47). According to ACMG guidelines in 2015, the mutation is pathogenic and has not been reported in the above databases. Conclusions: This is the first case report of Verheij syndrome caused by mutation of PUF60 gene in Chinese population. It is difficult to discriminate Verheij syndrome from Noonan syndrome, both have clinical manifestations such as severe growth retardation, psychomotor retardation, and congenital heart disease. In addition to Noonan syndrome, PUF60 genetic analysis was recommended for avoiding missed diagnosis with such clinical manifestations of patients.

Orbital venous malformation (OVM) ranks as the most common form of vascular lesions in the orbit. OVM may cause functional impairment as well as disfigured appearance in orbital and periorbital regions. A variety of treatment methods has been used to deal with OVM, including sclerotherapy, laser therapy, embolization, surgical resection. The treatment scenario should be made based on hemodynamics, location and extent of lesions in order to achieve encouraging results. With increased understanding on hemodynamics of OVM and application of newly proposed techniques, a combined modality of multiple approaches with defined order has been advocated to be applied in the treatment of OVM. In this paper, the latest advancement in treatment of OVM is reviewed. (Chin J Ophthalmol, 2018, 54: 548-550) .

V-raf murine sarcoma viral oncogene homolog B1 (BRAF) is a pro-oncogene, which is one member of the RAF family. Mutated BRAF is found in approximately 8% of human tumors. BRAF gene mutations lead to continuous activation of the mitogen-activatd protein kinase (MAPK) pathway, which resulting in abnormal cell proliferation and tumorigenesis. In recent years, recurrent MAPK signaling mutations were identified in ameloblastoma, among which BRAF-V600E is the most prominent type. This provides new strategies for the targeted treatment of ameloblastoma. This paper reviewed the latest advances in BRAF gene mutation associated with ameloblastoma and its potential clinical significance.

Objective: To systematically analyze the innovation and development trend in the field of ophthalmology. Methods: The latest ophthalmology funding program from the National Eye Institute and National Natural Science Foundation of China, and funding project for 2012 to 2016 from the National Institutes of Health, National Natural Science Foundation of China and National key research and development plan of China was collected. Using the comparative analysis method, the major ophthalmology funding areas at home and abroad were analyzed. Papers published in 2012 to 2016 in the field of ophthalmology were collected from the Web of Science Core Collection, among which ESI highly cited papers and hot papers were particularly selected. Using bibliometric methods, the time trend of the number of papers and the citation frequency were analyzed. Using the co-occurrence cluster analysis method, the continued focuses and emerging concerns of ophthalmology papers was analyzed. Results: The funding plan of the National Eye Institute mainly covers nine major diseases in ophthalmology. NSFC focuses on retinal damage and repair mechanisms. The National Key Research and Development Program of China focuses on research on high-end ophthalmic implants. NIH continues to focus on the molecular mechanisms of blinding eye disease such as diabetic retinopathy, age-related macular degeneration, glaucoma, corneal disease and cataracts, basic research in genetics, and advanced diagnostic techniques such as imaging. Latest areas of interest involve gene editing techniques and the application of stem cell technology in ophthalmology. In China, research and application of stem cells in ophthalmic diseases, intraocular sustained-release drug carrier, and precision medicine research in ophthalmology are emerging areas of funding. In 2012 to 2016, research topics of 168 papers collected by ESI focused on macular degeneration, retinal diseases, glaucoma and other eye diseases. How to quickly promote new drugs and new technological achievements to the clinical application is a problem in the field of ophthalmology. How to change the ophthalmology clinic model, so as to provide patients with convenient and quality service, has become a research topic that needs to be given attention to. Conclusions: Based on the multidimensional analysis of innovation and development in the field of ophthalmology, cross application and integration of ophthalmology and high - tech fields such as advanced imaging technology, stem cell technology, gene editing technology, molecular targeting, and artificial intelligence will provide a strong basis for the enhancement of China's ophthalmology research innovation and international competitiveness. Research efforts for ophthalmic transformation should be strengthened, in order to realize the clinical application of the achievements as soon as possible. (Chin J Ophthalmol, 2018, 54: 452 - 463) .

The excellent magnification and illumination of the operating microscope not only helps to improve the quality of conventional root canal therapy, but also plays an important role in the diagnosis and treatment of the difficult cases of endodontic diseases. It has an irreplaceable position over other equipment especially for the treatment of root canal therapy complications and the apical surgery. The structure and operation of the operating microscope are relatively complicated. The proficiency of the dentist may influence the evaluation of its clinical application effect. Based on the review of literature and author's clinical experience, this paper evaluates the role of operating microscope in the diagnosis and treatment of endodontic diseases.

Objective: To explore the reference intervals of thyrotropin (TSH) and free thyroxine (FT(4)) in normal pregnant women. Methods: Prospective and longitudinal sequential collection of the cases were performed. A total of 155 singleton pregnant women who had regular prenatal examination and delivery in West China Second Hospital of Sichuan University from January 2015 to December 2015 were included as the research group. Blood samples were sequentially collected from the pregnant women at the first (9-13(+6) weeks) , the second (24-27(+6) weeks) , the third (32-36 weeks) trimesters, respectively. Another 155 non-pregnant women were selected as the control group simultaneously, in an effort to establish a range of reference intervals of thyroid index in each period of pregnancy. Meanwhile, neonatal plantar blood were also collected on special filter paper and TSH levels were measured. Results: (1) TSH reference intervals [percentile 2.5-percentile 97.5 ( P (2.5)- P (97.5)) ] were 0.08-3.29 mU/L, 0.59-4.22 mU/L and 0.81-4.33 mU/L in three trimesters respectively. FT(4) reference intervals were 11.88-20.06 pmol/L, 9.89-15.80 pmol/L and 9.22-15.77 pmol/L in three trimesters respectively. (2) The median serum TSH in the first trimester (1.35 mU/L) was lower than that in the second trimester (2.15 mU/L) , the third trimester (2.19 mU/L) , and the control group (2.19 mU/L) . The differences were all statistically significant ( P< 0.05) . There was no significant difference in median serum TSH between the second trimester and the third trimester, the second trimester and the control group, and the third trimester versus the control group. (3) The median serum FT(4) in the first trimester (15.16 pmol/L) was higher than that in the second trimester (12.39 pmol/L) and the third trimester (12.26 pmol/L) . The differences were both statistically significant ( P< 0.05) . The median FT(4) in the second trimester and the third trimester was lower than that in the control group (15.64 pmol/L) , and the differences were both statistically significant ( P< 0.05) . (4) In the first trimester, the median serum total triiodothyronine (TT(3)) level (2.32 nmol/L) was higher than that in the control group (1.56 nmol/L) , total thyroxine (TT(4)) level (154.60 nmol/L) was also higher than that in the control group (98.25 nmol/L) , and free triiodothyronine (FT(3)) level (4.70 pmol/L) was lower than that in the control group (4.84 pmol/L) , the differences were all statistically significant ( P< 0.05) . (5) The TSH levels of all neonatus were normal [ (2.1±1.3) mU/L]. Conclusions: The thyroid hormone levels between pregnant women and non-pregnant women are significantly different. Moreover, the reference intervals are vary with pregnancy period. It is important to establish the specific reference intervals of thyroid hormones in the first, second and third trimester of pregnancy specific to local region or unit.

Retinal degeneration (RD) is a common eye disease which may result in blindness. At present, there is no effective clinical treatment for RD. It is known that apoptosis causes the occurrence and development of retinal degeneration, therefore antiapoptotic/antioxidative treatment has always been the focus in the treatment of RD. There are many kinds of antioxidant drugs, among which natural antioxidants are featured with reliable sources, high safety and less side effects. Hence researchers across the world made tremendous efforts in finding the safe and effective natural antioxidants. This paper focuses on the research progress of natural antioxidants in the treatment of retinal degeneration, in an effort to provide some valuable reference for clinical research. (Chin J Ophthalmol, 2018, 54: 312-315) .

In recent years with the rapid development of digital technology for stomatology, the application field, application model, technical features and technical connotation of the chair-side digital technology has got development and change. The open modular system has gradually replaced the traditional closed system, and the application field of digital technology is no longer limited to chair-side dental restoration, it also has been extend to various kinds of chair-side digital treatment-assisted technology. In this paper, from the engineering point of view, the up to date general connotation of chair-side digital technology was explained, the characteristics and the development of each unit in chair-side digital technology were analyzed, and the application pattern and the localization status were also discussed in this paper. The aim of this paper was to introduce the trend of chair-side digital technological to readers and to better guide clinical application.

Florid cemento-osseous dysplasia (FLCOD) is a rare, extensive bone metabolism disorder, which occurs only in the jaw bone. It is usually asymptomatic for a long time and discovered incidentally during a radiological examination. The characteristics of FLCOD in the initial stages are similar to those of periapical granuloma or jaw cyst, which may lead to misdiagnosis. After the lesion is mature, the imaging findings show that radiopaque with a thin radiolucent peripheral halo, which is crucial for the diagnosis of FLCOD, but other jaw lesions have similar imaging findings. Due to the poor blood supply of the lesion, the alveolar bone of root apices of vital teeth is slow to heal after trauma, increasing the chance of infection, which can lead to the osteomyelitis of the jaws and emerge sequestrum. This paper reviews the aspects of pathogenesis, clinical characteristics, diagnosis, differential diagnosis and treatment.

With the rapid development of the chair-side computer aided design and computer aided manufacture (CAD/CAM) technology, its accuracy and operability of have been greatly improved in recent years. Chair-side CAD/CAM system may produce all kinds of indirect restorations, and has the advantages of rapid, accurate and stable production. It has become the future development direction of Stomatology. This paper describes the clinical application of the chair-side CAD/CAM technology for anterior aesthetic restorations from the aspects of shade and shape.

Computer aided design and computer aided manufacture (CAD/CAM) technology is a kind of oral digital system which is applied to clinical diagnosis and treatment. It overturns the traditional pattern, and provides a solution to restore defect tooth quickly and efficiently. In this paper we mainly discuss the clinical skills of chair-side CAD/CAM system, including tooth preparation, digital impression, the three-dimensional design of prosthesis, numerical control machining, clinical bonding and so on, and review the outcomes of several common kinds of materials at the same time.

The standardization of clinical diagnosis and treatment of glaucoma is crucial to ensuring the quality of medical treatment and yielding high quality results in clinical research. Based on the results of a questionnaire survey, this paper analyzes the reasons for the gap between the current situations of glaucoma diagnosis and treatment in China and the international and domestic guidelines and consensus, emphasizes the importance of standardization in clinical diagnosis and treatment, and discusses the feasible strategies for improving the standardization of diagnosis and treatment.The goal is to improve glaucoma diagnosis and treatment service capability, bridge the gap between reality and domestic and international guidelines and consensus, and further standardize the management of glaucoma as a chronic disease, through efforts in strengthening training and promoting standardization. (Chin J Ophthalmol, 2018, 54: 161-163) .

Migraine is a common primary headache disorder. The estimated annual prevalence rate of migraine in China is 9.3%. Migraine is typically involved with a series of ocular symptoms including glaucoma, visual performance tests relevant to glaucoma exhibited correlation between glaucoma and migraine. Even though migraine patients exhibit no glaucoma-related signs during intermissions of migraine attacks, the results of visual function tests (visual field, electrophysiology, ocular imaging) relevant to glaucoma still indicate abnormalities. It is fairly typical that most of the patients may neglect their ocular problems when migraine breaks out. Epidemiological data suggests an increasing prevalence of migraine patients with glaucoma, particularly normal tension glaucoma. This paper reviews and discusses the effect of migraine on the clinical assessment and diagnosis of glaucoma. (Chin J Ophthalmol, 2018, 54: 224-228) .