Abstract:
RATIONALE:Supernumerary teeth are those that teeth in excess number than the normal count. It is usually associated with genetic syndromes when present in more numbers. Several causal genes, such as APC, NHS, TRPS1, EVC and RUNX2, have been identified. However, etiology of supernumerary teeth remains largely unclear. PATIENT CONCERNS:A family with the clinical diagnosis of supernumerary teeth, short stature and craniofacial dysplasia was examined. DIAGNOSES:Molecular genetic analysis found that mutation occurred in the RUNX2 gene. On the basis of this finding and clinical manifestations, the final diagnosis of cleidocranial dysplasia was made. INTERVENTIONS:Whole exome sequencing (WES) of DNA samples was performed to identify the disease-causing mutation, including the affected child and mother as well as the healthy father. OUTCOMES:A novel mutation of RUNX2 (c.473C>A; p.A158E) was identified in both patients, but not in normal family member and in-house database containing 3,000 Chinese Han individuals WES. This mutation was further confirmed by Sanger sequencing and predicted to be deleterious by several commonly used algorithms, including SIFT, PPT-2, MutationTaster and Proven. Furthermore, phenotype-genotype correlation analyses of all published 239 cases with different mutations in RUNX2 revealed significant association of supernumerary teeth and facial dysplasia with the Runt domain of the encoded protein. LESSONS:This is the first WES study to identify genetic cause in Chinese patients with a novel RUNX2 mutation. Our findings expanded the mutation spectrum and clinical features of the disease and facilitated clinic diagnosis and genetic counseling.
journal_name
Medicine (Baltimore)journal_title
Medicineauthors
Ma D,Wang X,Guo J,Zhang J,Cai Tdoi
10.1097/MD.0000000000011328subject
Has Abstractpub_date
2018-08-01 00:00:00pages
e11328issue
32eissn
0025-7974issn
1536-5964pii
00005792-201808100-00001journal_volume
97pub_type
杂志文章,评审相关文献
MEDICINE文献大全abstract:BACKGROUND:Coronavirus disease 2019 (COVID-19) is a global pandemic caused by the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2). There is no specific cure for this disease, and the clinical management mainly depends on supportive treatment. Traditional Chinese medicines (CHM) is widely used in treating C...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000020157
更新日期:2020-05-29 00:00:00
abstract:INTRODUCTION:Cardiac myxomas are the most frequent primary cardiac tumor in adults. The incidence in pediatric patients is extremely low. Heavy calcification of an atrial myxoma is uncommon in children. CASE PRESENTATION:An 18-month-old boy was admitted for a significant precordial systolic murmur. Transthoracic echoc...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000011073
更新日期:2018-06-01 00:00:00
abstract:BACKGROUND:Epithelial ovarian cancer (EOC) has been classified into four molecular subtypes, of which the mesenchymal subtype has the poorest survival. Our goal is to develop an immune-based prognostic signature by incorporating molecular subtypes for EOC patients. METHODS:The gene expression profiles of EOC samples w...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000022549
更新日期:2020-10-09 00:00:00
abstract::To compare immunonutrition versus standard high calorie nutrition in patients undergoing elective colorectal resection within an Enhanced Recovery After Surgery (ERAS) program.Despite progress in recent years in the surgical management of patients with colorectal cancer (ERAS programs), postoperative complications are...
journal_title:Medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1097/MD.0000000000003704
更新日期:2016-05-01 00:00:00
abstract::Previous studies on the relationship between obesity and depression have produced conflicting results. And only a limited number of studies have been conducted in Asians, and few large-scale nationwide studies have been conducted in Korean populations.We investigated the relationship between obesity and depression in ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000009478
更新日期:2017-12-01 00:00:00
abstract:RATIONALE:Sarcomatous or anaplastic carcinoma mural nodules presenting in ovarian mucinous cystic tumors are very rare. Here, we reported the ultrasonic and pathological features of 2 such cases. PATIENT CONCERNS:A 60-year-old woman presented with a complaint of lower abdominal pain. Physical examination revealed a ha...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000008636
更新日期:2017-11-01 00:00:00
abstract::Systemic activation of hemostasis and thrombosis has been implicated in tumor progression and metastasis. D-dimer has been used as an indicator for the thrombosis. Here, we investigated the role of the activation of coagulation in patients with metastatic gastric cancer by measuring D-dimer level.We conducted an obser...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000000951
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVES:To conduct a meta-analysis of studies comparing the renoprotective effects of angiotensin-converting enzyme inhibitor/angiotensin receptor blocker (ACEI/ARB) combined with either calcium channel blocker (CCB) or diuretic, but not both, in hypertensive patients. DATA SOURCES:Pubmed, Embase, Medline, and Coch...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000004167
更新日期:2016-07-01 00:00:00
abstract:RATIONALE:Germinomas are sensitive to radiation therapy and chemotherapy; therefore, correct imaging diagnosis is crucial for them. However, the imaging findings of germinomas originating from off-midline regions displayed different patterns from those originating from midline areas. PATIENT CONCERNS:The objective of ...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000005543
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND:Readmission is a common postoperative adverse event. This study aimed to analyze potential risk factors for the incidence of postoperative 30-day readmission after discharge for gastric cancer patients with surgical treatment. METHODS:Those studies that reported the risk factors of gastric cancer patients w...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000014639
更新日期:2019-03-01 00:00:00
abstract::Human infection with avian influenza A virus (H7N9) is a concern because of the mortality rate. Previously, we characterized immunological responses during active infection with it and reported evidence of impaired antigen-presenting capability, particularly in severely affected individuals. Here we describe an invest...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000002606
更新日期:2016-02-01 00:00:00
abstract::We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafnes...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000007149
更新日期:2017-06-01 00:00:00
abstract::Prolonged inspiratory to expiratory (I:E) ratio ventilation has been researched to reduce lung injury and improve oxygenation in surgical patients with one-lung ventilation (OLV) or carbon dioxide (CO2) pneumoperitoneum. We aimed to confirm the efficacy of the 1:1 equal ratio ventilation (ERV) compared with the 1:2 co...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000003269
更新日期:2016-03-01 00:00:00
abstract:INTRODUCTION:Stroke is the leading cause of disability-adjusted life years in neurological diseases and has become one of the top 3 fatal diseases in the world. Cerebral hemorrhage accounts for approximately 18% to 24% of all strokes in Asian countries. Cerebral hemorrhage is one of the most destructive subtypes of str...
journal_title:Medicine
pub_type: 杂志文章,多中心研究
doi:10.1097/MD.0000000000024214
更新日期:2021-01-15 00:00:00
abstract::This study was aimed to evaluate whether silver-containing dressings were superior to other types of dressings in the treatment of venous leg ulcers (VLU) and their specific advantages.Eight databases (Cochrane Library, PubMed, Web of Science, Ovid-Medline, Wanfang, VIP, China Biology Medicine, and China National Know...
journal_title:Medicine
pub_type: 杂志文章,meta分析
doi:10.1097/MD.0000000000022164
更新日期:2020-09-11 00:00:00
abstract:RATIONALE:Hepatoblastoma is a rare malignancy. Approximately 100 cases are diagnosed yearly in the United States. The highest incidence occurs in infants and in children younger than 5 years. Cases involving patients older than 5 years are very rare. We describe the case of a patient who was diagnosed with hepatoblasto...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000005858
更新日期:2017-01-01 00:00:00
abstract:RATIONALE:Chronic subdural hematoma (CSDH) is one of the most common neurosurgical diseases. However, complicated subdural empyema rarely occurs after trepanation and drainage of chronic subdural hematoma. PATIENT CONCERNS:A male patient (77 years old) was admitted to the hospital on the 2nd day of fever after an unde...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000018587
更新日期:2019-12-01 00:00:00
abstract::Calcific aortic valve disease (CAVD) is highly prevalent in our aging world and has no effective pharmaceutical treatment. Intense efforts have been made but the underlying molecular mechanisms of CAVD are still unclear.This study was designed to identify the critical genes and pathways in CAVD by bioinformatics analy...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000021286
更新日期:2020-07-17 00:00:00
abstract::We reviewed the clinical manifestations of mesenteric vasculitis due to giant cell arteritis (GCA) and considered features of the mesenteric anatomy in relationship to disease expression. We compiled and reviewed a case series by systematic identification of patients previously reported in the English-language literat...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0b013e3181646118
更新日期:2008-01-01 00:00:00
abstract:RATIONALE:The plantar fascia (PF) is an important anatomical structure that stabilizes the longitudinal arch of the foot. While plantar fasciitis is a common pathology affecting the foot, tears of the PF are uncommon injuries characterized by acute pain in the plantar aspect of the foot. The main purpose of this paper ...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000018428
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:With the aging of the population and the use of video terminals, the incidence of Conjunctivochalasis is getting higher, and related research is increasing. So our research aimed to use visualization software to display the research trends of Conjunctivochalasis. METHODS:Retrieved the document (from 1986 to...
journal_title:Medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/MD.0000000000012643
更新日期:2018-09-01 00:00:00
abstract:RATIONALE:Acute chest pain remains one of the most challenging complaints of patients presenting to emergency departments (EDs). The diverse etiologies of chest pain frequently lead to diagnostic and therapeutic challenges. Esophageal perforation is a rare but potentially life-threatening disease. It results in delayed...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000018765
更新日期:2020-01-01 00:00:00
abstract::The association between menstrual cycle irregularities and system disease has been evaluated in previous studies. However, the association between periodontal disease and menstrual cycle irregularity has not been fully investigated. The study aimed to evaluate the relationship between periodontal disease and tooth los...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000002791
更新日期:2016-02-01 00:00:00
abstract::The prognostic implication of Barcelona Clinic Liver Cancer (BCLC) substages in Asian patients with hepatocellular carcinoma (HCC) is still obscure.The aim to this study is to compare the prognoses among HCC patients in different substages of the BCLC stage 0 and A.We enrolled 1265 treatment-naive HCC patients with BC...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000001929
更新日期:2015-10-01 00:00:00
abstract:RATIONALE:Acinar cell carcinomas (ACCs) and mixed acinar-endocrine carcinomas (MAECs) of the pancreas are rare, accounting for only 1% of pancreatic tumors. Although both typically present at an advanced stage, chemotherapeutic regimes have not yet been standardized. PATIENT CONCERNS:A 65-year-old man presented with a...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000008534
更新日期:2017-11-01 00:00:00
abstract::This study aimed to evaluate the characteristics of parathyroid carcinoma and to validate the diagnostic value of Tc-methoxyisobutylisonitrile (MIBI) single photon emission computed tomography/x-ray computed tomography (SPECT/CT) for differentiating between parathyroid carcinoma and hyperparathyroidism. Four consecuti...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000012578
更新日期:2018-10-01 00:00:00
abstract::The association between the hepatitis C virus (HCV) infection and the risk of myocardial infarction (MI) and stroke has been previously investigated. However, the association between the HCV infection and the risk of venous thromboembolism (VTE) has not been extensively discussed. Using the Longitudinal Health Insuran...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000001585
更新日期:2015-09-01 00:00:00
abstract:RATIONALE:Infertile male carrying balanced translocations can be broadly divided into two types: pregestational and gestational infertility. Chromosome and breakpoints involved translocation should be considered in genetic counselling for these patients. To date, > 100 cases have been described with carrying balanced t...
journal_title:Medicine
pub_type: 杂志文章,评审
doi:10.1097/MD.0000000000010452
更新日期:2018-04-01 00:00:00
abstract::The purpose of this study is to confirm and complement previous data regarding an association between gastroesophageal reflux disease and appendectomy.The Korean National Health Insurance Service-National Sample Cohort includes data from people ≥ 20 years old collected from 2002 to 2013. A total of 13,484 participants...
journal_title:Medicine
pub_type: 杂志文章
doi:10.1097/MD.0000000000013700
更新日期:2018-12-01 00:00:00
abstract::The aim of the study was to examine whether depression impacts medication nonadherence (MNA) over time and determine if race has a differential impact on MNA in patients with type 2 diabetes and comorbid depression.Generalized estimating equations were used with a longitudinal national cohort of 740,197 veterans with ...
journal_title:Medicine
pub_type: 杂志文章,多中心研究
doi:10.1097/MD.0000000000003983
更新日期:2016-06-01 00:00:00