BACKGROUND For the prognosis of patients with early gastric cancer(EGC),lymph node metastasis(LNM)plays a crucial role.A thorough and precise evaluation of the patient for LNM is now required.AIM To determine the fact...BACKGROUND For the prognosis of patients with early gastric cancer(EGC),lymph node metastasis(LNM)plays a crucial role.A thorough and precise evaluation of the patient for LNM is now required.AIM To determine the factors influencing LNM and to construct a prediction model of LNM for EGC patients.METHODS Clinical information and pathology data of 2217 EGC patients downloaded from the Surveillance,Epidemiology,and End Results database were collected and analyzed.Based on a 7:3 ratio,1550 people were categorized into training sets and 667 people were assigned to testing sets,randomly.Based on the factors influencing LNM determined by the training sets,the nomogram was drawn and verified.RESULTS Based on multivariate analysis,age at diagnosis,histology type,grade,T-stage,and size were risk factors of LNM for EGC.Besides,nomogram was drawn to predict the risk of LNM for EGC patients.Among the categorical variables,the effect of grade(well,moderate,and poor)was the most significant prognosis factor.For training sets and testing sets,respectively,area under the receiver-operating characteristic curve of nomograms were 0.751[95%confidence interval(CI):0.721-0.782]and 0.786(95%CI:0.742-0.830).In addition,the calibration curves showed that the prediction model of LNM had good consistency.CONCLUSION Age at diagnosis,histology type,grade,T-stage,and tumor size were independent variables for LNM in EGC.Based on the above risk factors,prediction model may offer some guiding implications for the choice of subsequent therapeutic approaches for EGC.展开更多
p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of...p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.展开更多
BACKGROUND Parathyroid adenoma(PTA)is known as an adenomatous hyperparathyroidism syndrome.At earlier times,the major symptoms of this disease included high blood calcium and low phosphorus.PTA is a benign neuroendocr...BACKGROUND Parathyroid adenoma(PTA)is known as an adenomatous hyperparathyroidism syndrome.At earlier times,the major symptoms of this disease included high blood calcium and low phosphorus.PTA is a benign neuroendocrine neoplasm.We have reviewed the literature and found that it is rare for patients with hyperparathyroidism to have benign tumors with multiple organs at the same time.This report describes a patient with a PTA and four nonfunctional adenomas.CASE SUMMARY We report a case of primary hyperparathyroidism in a 39-year-old woman with multiple organ tumors.The patient was admitted to hospital because of hypercalcemia.Laboratory,imaging,and histological examinations confirmed a left parathyroid neoplasm.Right thyroid adenoma was discovered during hospitalization.She had a medical history of uterine fibroids,right benign mammary gland tumor,and meningioma.The patient recovered after surgical and conservative treatments.CONCLUSION Primary hyperparathyroidism with multiple organ tumors is uncommon,and further studies should be conducted to determine if there is genetic heterogeneity.展开更多
文摘BACKGROUND For the prognosis of patients with early gastric cancer(EGC),lymph node metastasis(LNM)plays a crucial role.A thorough and precise evaluation of the patient for LNM is now required.AIM To determine the factors influencing LNM and to construct a prediction model of LNM for EGC patients.METHODS Clinical information and pathology data of 2217 EGC patients downloaded from the Surveillance,Epidemiology,and End Results database were collected and analyzed.Based on a 7:3 ratio,1550 people were categorized into training sets and 667 people were assigned to testing sets,randomly.Based on the factors influencing LNM determined by the training sets,the nomogram was drawn and verified.RESULTS Based on multivariate analysis,age at diagnosis,histology type,grade,T-stage,and size were risk factors of LNM for EGC.Besides,nomogram was drawn to predict the risk of LNM for EGC patients.Among the categorical variables,the effect of grade(well,moderate,and poor)was the most significant prognosis factor.For training sets and testing sets,respectively,area under the receiver-operating characteristic curve of nomograms were 0.751[95%confidence interval(CI):0.721-0.782]and 0.786(95%CI:0.742-0.830).In addition,the calibration curves showed that the prediction model of LNM had good consistency.CONCLUSION Age at diagnosis,histology type,grade,T-stage,and tumor size were independent variables for LNM in EGC.Based on the above risk factors,prediction model may offer some guiding implications for the choice of subsequent therapeutic approaches for EGC.
基金Anhui Province Central Guided Local Science and Technology Development Funding Project,No.2017070802D147Anhui Province Key Clinical Specialist Construction Fund.
文摘p.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals.However,data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking.This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019.CASE SUMMARY Case 1 presented with hypertension,hypokalemia,sexual infantilism and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn.Case 2 presented with hypokalemia,sexual infantilism,osteoporosis and delayed bone age.The patient had a 46,XY karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up.Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2.Case 3 presented with amenorrhea,sexual infantilism,osteopenia and delayed bone age.The patient had a 46,XX karyotype,was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd.Outpatient follow-up revealed an adrenocorticotropic hormone(8 AM)of<5.00 pg/mL.CONCLUSION The homozygous p.Tyr329fs mutation usually manifests as a combined deficiency,and definitive diagnosis depends primarily on genetic testing.
文摘BACKGROUND Parathyroid adenoma(PTA)is known as an adenomatous hyperparathyroidism syndrome.At earlier times,the major symptoms of this disease included high blood calcium and low phosphorus.PTA is a benign neuroendocrine neoplasm.We have reviewed the literature and found that it is rare for patients with hyperparathyroidism to have benign tumors with multiple organs at the same time.This report describes a patient with a PTA and four nonfunctional adenomas.CASE SUMMARY We report a case of primary hyperparathyroidism in a 39-year-old woman with multiple organ tumors.The patient was admitted to hospital because of hypercalcemia.Laboratory,imaging,and histological examinations confirmed a left parathyroid neoplasm.Right thyroid adenoma was discovered during hospitalization.She had a medical history of uterine fibroids,right benign mammary gland tumor,and meningioma.The patient recovered after surgical and conservative treatments.CONCLUSION Primary hyperparathyroidism with multiple organ tumors is uncommon,and further studies should be conducted to determine if there is genetic heterogeneity.