AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family ...AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family history of gastric cancer in patients with gastric cancer, vs non-gastric cancer controls were retrieved. Studies with missed or non-extractable data, studies in children, abstracts, and duplicate publications were excluded. A meta-analysis of pooled odd ratios was performed using Review Manager 5.0.25. We performed subgroup analysis on Asian studies and a sensitivity analysis based on the quality of the studies, type of the outcome, sample size, and whether studies considered only first-degree relatives.RESULTSThirty-two relevant studies out of 612 potential abstracts (n = 80690 individuals) were included. 19.0% of the patients and 10.9% of the controls had at least one relative with gastric cancer (P < 0.00001). The pooled relative risk for the development of gastric cancer in association with a positive family history was 2.35 (95%CI: 1.96-2.81). The Cochran Q test for heterogeneity was positive (P < 0.00001, I² = 92%). After excluding the three outlier studies with the highest relative risks, heterogeneity remained significant (P < 0.00001, I² = 90%). The result was not different among Asian studies as compared to others and remained robust in several sensitivity analyses. In the 26 studies which exclusively analysed the history of gastric cancer in first-degree relatives, the relative risk was 2.71 (95%CI: 2.08-3.53; P < 0.00001).CONCLUSIONIndividuals with a first-degree relative affected with gastric cancer have a risk of about 2.5-fold for the development of gastric cancer. This could be due to genetic or environmental factors. Screening and preventive strategies should be developed for this high-risk population.展开更多
The diagnosis of gastric metastasis from lung cancer is relatively rare in living patients.We describe a case of Type 4 tumor-like metastasis due to primary lung cancer diagnosed with immunohistochemical staining whil...The diagnosis of gastric metastasis from lung cancer is relatively rare in living patients.We describe a case of Type 4 tumor-like metastasis due to primary lung cancer diagnosed with immunohistochemical staining while the patient was alive.A 68-year-old man was admitted to our hospital because of epigastric pain.Gastrointestinal endoscopy revealed a Type 4 tumor and the histological examination showed poorly differentiated adenocar-cinoma.His chest X-ray showed mass shadow in the right upper lung field.The resected specimens showed moderately differentiated adenocarcinoma.,The diagnosis of gastric metastasis from lung cancer was made by immunohistochemical staining of the lung and gastric tumors which showed positive staining for Thyroid transcriptional factor-1.Diagnosis of gastric metastasis,especially Type 4 metastasis by lung cancer is diff icult.However,immunohistochemical staining is very helpful for diagnosis of primary lung cancer metastasis at sites such as the gastrointestinal tract which are not normally prone to metastatis.展开更多
Primary ciliary dyskinesia(PCD)is a rare disorder characterized by extensive genetic heterogeneity.However,in the genetic pathogenesis of PCD,copy number variation(CNV)has not received sufcient attention and has rarel...Primary ciliary dyskinesia(PCD)is a rare disorder characterized by extensive genetic heterogeneity.However,in the genetic pathogenesis of PCD,copy number variation(CNV)has not received sufcient attention and has rarely been reported,especially in China.Next-generation sequencing(NGS)followed by targeted CNV analysis was used in patients highly suspected to have PCD with negative results in routine whole-exome sequencing(WES)analysis.Quantitative real-time polymerase chain reaction(qPCR)and Sanger sequencing were used to confrm these CNVs.To further characterize the ciliary phenotypes,high-speed video microscopy analysis(HSVA),transmission electron microscopy(TEM),and immunofuorescence(IF)analysis were used.Patient 1(F1:II-1),a 0.6-year-old girl,came from a nonconsanguineous family-I.She presented with situs inversus totalis,neonatal respiratory distress,and sinusitis.The nasal nitric oxide level was markedly reduced.The respiratory cilia beat with reduced amplitude.TEM revealed shortened outer dynein arms(ODA)of cilia.chr5:13717907-13722661del spanning exons 71–72 was identifed by NGS-based CNV analysis.Patient 2(F2:IV-4),a 37-year-old man,and his eldest brother Patient 3(F2:IV-2)came from a consanguineous family-II.Both had sinusitis,bronchiectasis and situs inversus totalis.The respiratory cilia of Patient 2 and Patient 3 were found to be uniformly immotile,with ODA defects.Two novel homozygous deletions chr5:13720087_13733030delinsGTTTTC and chr5:13649539_13707643del,spanning exons 69–71 and exons 77–79 were identifed by NGS-based CNV analysis.Abnormalities in DNA copy number were confrmed by qPCR amplifcation.IF showed that the respiratory cilia of Patient 1 and Patient 2 were defcient in dynein axonemal heavy chain 5(DNAH5)protein expression.This report identifed three novel DNAH5 disease-associated variants by WES-based CNV analysis.Our study expands the genetic spectrum of PCD with DNAH5 in the Chinese population.展开更多
Background:Intrapulmonary lipoma is extemely rare in children.So far,all reported pulmonary lipomas were from adult patients.Methods:We present herein a case of intrapulmonary lipoma in a child and a review of the rel...Background:Intrapulmonary lipoma is extemely rare in children.So far,all reported pulmonary lipomas were from adult patients.Methods:We present herein a case of intrapulmonary lipoma in a child and a review of the related literature.Results:A 13-month-old boy was hospitalized because of cough and fever.Chest CT showed patchy infiltration and round-shape,hypodense homogeneous lesions located in the lung.After 19 days of antibiotic treatment,his clinic symptoms disappeared,but the round lesions remained without any change.One month and one year later,he was examined by chest MRI with technique of fat suppression.The child was diagnosed as having an intrapulmonary lipoma without biopsy.Conclusions:Intrapulmonary lipoma is rare in children.Chest CT and MRI are very important for the correct diagnosis of intrapulmonary lipoma.展开更多
文摘AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family history of gastric cancer in patients with gastric cancer, vs non-gastric cancer controls were retrieved. Studies with missed or non-extractable data, studies in children, abstracts, and duplicate publications were excluded. A meta-analysis of pooled odd ratios was performed using Review Manager 5.0.25. We performed subgroup analysis on Asian studies and a sensitivity analysis based on the quality of the studies, type of the outcome, sample size, and whether studies considered only first-degree relatives.RESULTSThirty-two relevant studies out of 612 potential abstracts (n = 80690 individuals) were included. 19.0% of the patients and 10.9% of the controls had at least one relative with gastric cancer (P < 0.00001). The pooled relative risk for the development of gastric cancer in association with a positive family history was 2.35 (95%CI: 1.96-2.81). The Cochran Q test for heterogeneity was positive (P < 0.00001, I² = 92%). After excluding the three outlier studies with the highest relative risks, heterogeneity remained significant (P < 0.00001, I² = 90%). The result was not different among Asian studies as compared to others and remained robust in several sensitivity analyses. In the 26 studies which exclusively analysed the history of gastric cancer in first-degree relatives, the relative risk was 2.71 (95%CI: 2.08-3.53; P < 0.00001).CONCLUSIONIndividuals with a first-degree relative affected with gastric cancer have a risk of about 2.5-fold for the development of gastric cancer. This could be due to genetic or environmental factors. Screening and preventive strategies should be developed for this high-risk population.
文摘The diagnosis of gastric metastasis from lung cancer is relatively rare in living patients.We describe a case of Type 4 tumor-like metastasis due to primary lung cancer diagnosed with immunohistochemical staining while the patient was alive.A 68-year-old man was admitted to our hospital because of epigastric pain.Gastrointestinal endoscopy revealed a Type 4 tumor and the histological examination showed poorly differentiated adenocar-cinoma.His chest X-ray showed mass shadow in the right upper lung field.The resected specimens showed moderately differentiated adenocarcinoma.,The diagnosis of gastric metastasis from lung cancer was made by immunohistochemical staining of the lung and gastric tumors which showed positive staining for Thyroid transcriptional factor-1.Diagnosis of gastric metastasis,especially Type 4 metastasis by lung cancer is diff icult.However,immunohistochemical staining is very helpful for diagnosis of primary lung cancer metastasis at sites such as the gastrointestinal tract which are not normally prone to metastatis.
基金Shanghai Natural Science Foundation of Science and Technology Innovation Action Plan(Grant Number:21ZR1410200 and 21ZR1409900).
文摘Primary ciliary dyskinesia(PCD)is a rare disorder characterized by extensive genetic heterogeneity.However,in the genetic pathogenesis of PCD,copy number variation(CNV)has not received sufcient attention and has rarely been reported,especially in China.Next-generation sequencing(NGS)followed by targeted CNV analysis was used in patients highly suspected to have PCD with negative results in routine whole-exome sequencing(WES)analysis.Quantitative real-time polymerase chain reaction(qPCR)and Sanger sequencing were used to confrm these CNVs.To further characterize the ciliary phenotypes,high-speed video microscopy analysis(HSVA),transmission electron microscopy(TEM),and immunofuorescence(IF)analysis were used.Patient 1(F1:II-1),a 0.6-year-old girl,came from a nonconsanguineous family-I.She presented with situs inversus totalis,neonatal respiratory distress,and sinusitis.The nasal nitric oxide level was markedly reduced.The respiratory cilia beat with reduced amplitude.TEM revealed shortened outer dynein arms(ODA)of cilia.chr5:13717907-13722661del spanning exons 71–72 was identifed by NGS-based CNV analysis.Patient 2(F2:IV-4),a 37-year-old man,and his eldest brother Patient 3(F2:IV-2)came from a consanguineous family-II.Both had sinusitis,bronchiectasis and situs inversus totalis.The respiratory cilia of Patient 2 and Patient 3 were found to be uniformly immotile,with ODA defects.Two novel homozygous deletions chr5:13720087_13733030delinsGTTTTC and chr5:13649539_13707643del,spanning exons 69–71 and exons 77–79 were identifed by NGS-based CNV analysis.Abnormalities in DNA copy number were confrmed by qPCR amplifcation.IF showed that the respiratory cilia of Patient 1 and Patient 2 were defcient in dynein axonemal heavy chain 5(DNAH5)protein expression.This report identifed three novel DNAH5 disease-associated variants by WES-based CNV analysis.Our study expands the genetic spectrum of PCD with DNAH5 in the Chinese population.
文摘Background:Intrapulmonary lipoma is extemely rare in children.So far,all reported pulmonary lipomas were from adult patients.Methods:We present herein a case of intrapulmonary lipoma in a child and a review of the related literature.Results:A 13-month-old boy was hospitalized because of cough and fever.Chest CT showed patchy infiltration and round-shape,hypodense homogeneous lesions located in the lung.After 19 days of antibiotic treatment,his clinic symptoms disappeared,but the round lesions remained without any change.One month and one year later,he was examined by chest MRI with technique of fat suppression.The child was diagnosed as having an intrapulmonary lipoma without biopsy.Conclusions:Intrapulmonary lipoma is rare in children.Chest CT and MRI are very important for the correct diagnosis of intrapulmonary lipoma.
