Pub Date : 2020-02-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.02.011
Chuanfeng Liu, Yue Zhou, Yuhang Zhao, B. Dong, Bingfei Cheng, Fangchao Liu, Shengnan Sun, Yangang Wang
Diabetic patients with poor glycemic control are exposed to media containing mold spores, and spores enter the body, which may lead to refractory infections. This article combines case and literature reviews, proposes the diagnosis and treatment method of mold infection, and provides some guidances for subjects who long-term exposure to mold groups such as farmers and immunocompromised people. Key words: Diabetes mellitus; Aspergillus; Pnlmonary aspergillosis.
{"title":"Diabetes mellitus concurrent aspergillus pneumonia: One case report","authors":"Chuanfeng Liu, Yue Zhou, Yuhang Zhao, B. Dong, Bingfei Cheng, Fangchao Liu, Shengnan Sun, Yangang Wang","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.02.011","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.02.011","url":null,"abstract":"Diabetic patients with poor glycemic control are exposed to media containing mold spores, and spores enter the body, which may lead to refractory infections. This article combines case and literature reviews, proposes the diagnosis and treatment method of mold infection, and provides some guidances for subjects who long-term exposure to mold groups such as farmers and immunocompromised people. \u0000 \u0000Key words: \u0000Diabetes mellitus; Aspergillus; Pnlmonary aspergillosis.","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"150-152"},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46963774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-02-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.02.017
P. An, Kang Chen, Y. Mu
Cushing′s syndrome during pregnancy is a very rare clinical condition, but can be seriously detrimental to mothers and fetuses. The gestation could lead to an increase of endogenous adrenal cortisol which could mimick the symptoms of Cushing′s syndrome and also cause difficulty in biochemical diagnosis. Moreover, the therapy of Cushing′s syndrome need to be optimized based on the classification of the pathogenesis, the timing of terminating pregnancy should be considered prudently and comprehensively in this condition. This article mainly reviews the diagnosis and therapies of Cushing′s syndrome concomitant with pregnancy and provides possible suggestions for the management of this condition. Key words: Cushing′s syndrome; Pregnancy; Adrenal adenoma; Cushing′s disease
{"title":"Diagnosis and management of Cushing′s syndrome in pregnant women","authors":"P. An, Kang Chen, Y. Mu","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.02.017","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.02.017","url":null,"abstract":"Cushing′s syndrome during pregnancy is a very rare clinical condition, but can be seriously detrimental to mothers and fetuses. The gestation could lead to an increase of endogenous adrenal cortisol which could mimick the symptoms of Cushing′s syndrome and also cause difficulty in biochemical diagnosis. Moreover, the therapy of Cushing′s syndrome need to be optimized based on the classification of the pathogenesis, the timing of terminating pregnancy should be considered prudently and comprehensively in this condition. This article mainly reviews the diagnosis and therapies of Cushing′s syndrome concomitant with pregnancy and provides possible suggestions for the management of this condition. \u0000 \u0000Key words: \u0000Cushing′s syndrome; Pregnancy; Adrenal adenoma; Cushing′s disease","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"180-184"},"PeriodicalIF":0.0,"publicationDate":"2020-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49033557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.013
Shiyao Xue
The etiology of polycystic ovary syndrome(PCOS) is unknown, which is closely related to insulin resistance and hyperinsulinemia. There are several controversies on PCOS diagnosis because of its diversity and heterogeneity in clinical manifestations. PCOS biomarkers have become a research hotspot. The methods of treatment include lifestyle interventions and improving metabolic dysfunction, hyperandrogenism, and reproduction abnormality. This article reviews the latest research progress in the morbidity characteristics, diagnostic criteria, and the therapy of PCOS. Key words: Polycystic ovary syndrome; Diagnosis; Therapy
{"title":"Progress in diagnosis and therapy of polycystic ovary syndrome","authors":"Shiyao Xue","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.013","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.013","url":null,"abstract":"The etiology of polycystic ovary syndrome(PCOS) is unknown, which is closely related to insulin resistance and hyperinsulinemia. There are several controversies on PCOS diagnosis because of its diversity and heterogeneity in clinical manifestations. PCOS biomarkers have become a research hotspot. The methods of treatment include lifestyle interventions and improving metabolic dysfunction, hyperandrogenism, and reproduction abnormality. This article reviews the latest research progress in the morbidity characteristics, diagnostic criteria, and the therapy of PCOS. \u0000 \u0000 \u0000Key words: \u0000Polycystic ovary syndrome; Diagnosis; Therapy","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"88-92"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49436860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.009
Q. Yan, W. Zhou, Xiaolei Zhu, S. Du, Fan Yang
Objective To explore the effect and mechanism of omega 3-polyunsaturated fatty acid(ω3-PUFA) dietary intervention on mitochondrial function of white adipose tissue in adult rats with postnatal early overfeeding. Methods An overfed animal model by adjusting litter size was developed for the study of neonatal overfeeding. The litter size was adjusted to 3 male rats per litter(small litter, SL group) and 10 pups per litter(normal litter, NL group). After weaning(week 3), the pups were fed standard chow or ω3-PUFA diet(SL-FO) until postnatal weeks 13. Food intake, body weight, and rectal temperature of rats were measured regularly, and energy metabolism of animals was monitored in week 13. During week 3 and 13, subcutaneous adipose tissue was collected. Inguinal preadipocytes of mice were isolated and induced to differentiate, and 50 μmol/L eicosapentaenoicacid(EPA) was administered for 48 h at the late stage of differentiation. The mRNA and protein expression levels of mitochondrial related genes, mitochondrial copy number, and oxygen consumption rate of adipocytes were detected in adipose tissue and adipocytes. Results By the 3rd week, the body weight, food intake, and fat cell area in SL group were higher than those in NL group while the body temperature was lower until to 13 weeks. By the 13th week, the O2 consumption, CO2 output, and heat production of rats in SL group were lower than those in NL group. Meanwhile, the expressions of mitochondrial function related genes such as uncoupling protein 1(UCP1), carnitine palmitoyltransferase 1(CPT1), SIRT1, and mitochondrial biosynthesis regulatory gene peroxisome proliferator-activated receptor coativator-1 (PGC1α) in adipose tissue by the 3rd and 13th week were significantly reduced(P<0.05). After weaning, ω3-PUFA diet significantly reduced weight gain in SL rats, increased UCP1 protein expression, restored energy metabolism level and mitochondrial function related gene expression. In vitro intervention of EPA increased the mitochondrial copy number, the mRNA and protein expression levels of mitochondrial biosynthesis and functional genes, as well as the mitochondrial basic oxygen consumption rate(P<0.05). Conclusion ω3-PUFA improves postnatal overfeeding-induced impairment of the mitochondrial function and biosynthesis of subcutaneous white adipose tissue in rats, which may be an important mechanism for fish oil diet to inhibit the early over-nutrition program and restore the thermogenic metabolism. Key words: Omega 3-PUFA; Postnatal overfeeding; White fat; Mitochondria
{"title":"Omega3-polyunsaturated fatty acid ameliorates metabolic disorders in adulthood rats caused by postnatal early overfeeding","authors":"Q. Yan, W. Zhou, Xiaolei Zhu, S. Du, Fan Yang","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.009","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.009","url":null,"abstract":"Objective \u0000To explore the effect and mechanism of omega 3-polyunsaturated fatty acid(ω3-PUFA) dietary intervention on mitochondrial function of white adipose tissue in adult rats with postnatal early overfeeding. \u0000 \u0000 \u0000Methods \u0000An overfed animal model by adjusting litter size was developed for the study of neonatal overfeeding. The litter size was adjusted to 3 male rats per litter(small litter, SL group) and 10 pups per litter(normal litter, NL group). After weaning(week 3), the pups were fed standard chow or ω3-PUFA diet(SL-FO) until postnatal weeks 13. Food intake, body weight, and rectal temperature of rats were measured regularly, and energy metabolism of animals was monitored in week 13. During week 3 and 13, subcutaneous adipose tissue was collected. Inguinal preadipocytes of mice were isolated and induced to differentiate, and 50 μmol/L eicosapentaenoicacid(EPA) was administered for 48 h at the late stage of differentiation. The mRNA and protein expression levels of mitochondrial related genes, mitochondrial copy number, and oxygen consumption rate of adipocytes were detected in adipose tissue and adipocytes. \u0000 \u0000 \u0000Results \u0000By the 3rd week, the body weight, food intake, and fat cell area in SL group were higher than those in NL group while the body temperature was lower until to 13 weeks. By the 13th week, the O2 consumption, CO2 output, and heat production of rats in SL group were lower than those in NL group. Meanwhile, the expressions of mitochondrial function related genes such as uncoupling protein 1(UCP1), carnitine palmitoyltransferase 1(CPT1), SIRT1, and mitochondrial biosynthesis regulatory gene peroxisome proliferator-activated receptor coativator-1 (PGC1α) in adipose tissue by the 3rd and 13th week were significantly reduced(P<0.05). After weaning, ω3-PUFA diet significantly reduced weight gain in SL rats, increased UCP1 protein expression, restored energy metabolism level and mitochondrial function related gene expression. In vitro intervention of EPA increased the mitochondrial copy number, the mRNA and protein expression levels of mitochondrial biosynthesis and functional genes, as well as the mitochondrial basic oxygen consumption rate(P<0.05). \u0000 \u0000 \u0000Conclusion \u0000ω3-PUFA improves postnatal overfeeding-induced impairment of the mitochondrial function and biosynthesis of subcutaneous white adipose tissue in rats, which may be an important mechanism for fish oil diet to inhibit the early over-nutrition program and restore the thermogenic metabolism. \u0000 \u0000 \u0000Key words: \u0000Omega 3-PUFA; Postnatal overfeeding; White fat; Mitochondria","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"63-71"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44260854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.004
You-bo Yang, Wen-mu Hu, Z. Mo, H. Dai, Qin Zhang
Objective To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism. Methods Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Results The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs. Conclusion A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease. Key words: Hypothyroidism; Low-coverage massively parallel copy number variation sequencing; Williams-Beuren syndrome; Copy number variations
{"title":"Diagnosis of one case of Williams-Beuren syndrome presenting with hypothyroidism by low-coverage massively parallel CNV sequencing","authors":"You-bo Yang, Wen-mu Hu, Z. Mo, H. Dai, Qin Zhang","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.004","url":null,"abstract":"Objective \u0000To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism. \u0000 \u0000 \u0000Methods \u0000Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). \u0000 \u0000 \u0000Results \u0000The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs. \u0000 \u0000 \u0000Conclusion \u0000A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease. \u0000 \u0000 \u0000Key words: \u0000Hypothyroidism; Low-coverage massively parallel copy number variation sequencing; Williams-Beuren syndrome; Copy number variations","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"31-35"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48077139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.005
Qi Yuan, Jinglei Yang, Mengyue Sun, Zhaohua Zhu, Yuzhang Jiang, Shijun Yang, D. Hu, Sha Tao, Meijuan Dong, Li Mao
Objective To investigate the clinical features and pathogenic genes of a family with osteosclerosis. Methods Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL. Results Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein. Conclusion The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis. Key words: Osteosclerosis; Low-density lipoprotein receptor-related protein 5; Gain of function; Wnt signaling pathway
{"title":"One family with osteosclerosis caused by D111Y mutation in the low-density lipoprotein receptor-related protein 5 gene","authors":"Qi Yuan, Jinglei Yang, Mengyue Sun, Zhaohua Zhu, Yuzhang Jiang, Shijun Yang, D. Hu, Sha Tao, Meijuan Dong, Li Mao","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.005","url":null,"abstract":"Objective \u0000To investigate the clinical features and pathogenic genes of a family with osteosclerosis. \u0000 \u0000 \u0000Methods \u0000Six patients and six family members from a family in Jiangsu were tested for biochemical parameters, bone metabolic markers, bone mineral density, thoracolumbar anterior lateral slices, skull positive lateral radiographs, and pelvic plain films. Meanwhile, Sanger sequencing was performed to detect gene mutations of the proband and five other family members with high bone mass. The conformation of the mutational low-density lipoprotein receptor-related protein 5 (LRP5) protein was predicted by SWISS-MODEL. \u0000 \u0000 \u0000Results \u0000Four adult patients (one male and three females) were tall, with mandibular enlargement and kyphosis in the center of the lower jaw, and none of the four had fractures. Their X ray examination revealed that the skull and long bone cortex was thickened, while the sella and mandible was enlarged. In addition, the absolute values of bone mineral density at each site of all patients were significantly higher as compared with the standard age- and sex-matched adults or adolescent mean reference values, with Z scores of L2-4, femoral neck and total hip being (6.31±4.03) SD, (6.56±2.36) SD, and (7.19±2.03) SD, respectively. The results of genetic sequencing revealed that all six patients carried a heterozygous mutation (c.331G>T; D111Y) in exon 2 of LRP5 gene, while other family members showed wild type (c.331G>G; D111D). Functional prediction indicated that this mutation was located at the amino acid terminal of exon 2 of LRP5 gene, which encodes the first β-helix-generating region of LRP5 protein. \u0000 \u0000 \u0000Conclusion \u0000The D111Y mutation in LRP5 gene leads to a clinical phenotype characterized by benign increased bone mineral density without increasing the risk of fracture. This mutation may further affect the downstream Wnt signaling pathway by altering the spatial structure of LRP5 protein, thereby promoting maturation and differentiation of osteoblasts and resulting in osteosclerosis. \u0000 \u0000 \u0000Key words: \u0000Osteosclerosis; Low-density lipoprotein receptor-related protein 5; Gain of function; Wnt signaling pathway","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"36-42"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47371957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder. Methods The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard. Results One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported. Conclusion Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare. Key words: Thyrotropinoma; Multiple endocrine neoplasia type 1; Hyperthyroidism; Hyperparathyroidism; MEN1 gene; Silent pancreatic neuroendocrine tumor
{"title":"Thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1: one case report and literature review","authors":"Zhuo-na Yin, Wensheng Jin, Xiaoyu Zhang, Hongmei Li, Haimin Liu, Qirui Fu, Song Zhang, Xiangdong Li, Xiansheng Zhu","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.006","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.006","url":null,"abstract":"Objective \u0000To improve the understanding of thyrotropin-secreting adenoma in multiple endocrine neoplasia type 1(MEN1) through analyzing the clinical diagnosis and treatment process, as well as outcomes in one case of this disorder. \u0000 \u0000 \u0000Methods \u0000The clinical manifestations, biochemical and hormone levels, imaging presentations, medical and surgical treatments, and post-operational pathologic findings in the process of diagnosis and treatment of a patient with thyrotropin-secreting adenoma in MEN1 were analyzed. The next generation sequencing followed by Sanger method was used for analyzing MEN1 and related genes. The results were evaluated with online PolyPhen2 and PROVEAN for variation hazard. \u0000 \u0000 \u0000Results \u0000One 19-year old male patient was diagnosed with hyperthyroidism due to thyrotoxicosis and high level of thyroid hormones(THs) with measurable TSH(2.78 mIU/L) and negative thyrotropin receptor antibody(TRAb). Meanwhile, primary hyperparathyroidism was suggested by hypercalcemia, hypophosphatemia, and elevated intact parathyroid hormone(PTH) level, all the parameters were returned to normal after surgical resection of the mass which was below the left thyroid lobe indicated by ultrasound and 99mTc scan. Thyrotoxicosis remained in spite of one year treatment with antithyroid drug, thyrotropinoma was then suspected, and subsequent MRI scan found a macroadenoma at right pituitary. TSH and THs returned to normal 1 month after transsphenoidal removal of the adenoma. As expected, immunohistochemical staining revealed TSH positive. In addition, a pancreatic mass was found by both CT and MRI scan, which was considered as a silent neuroendocrine tumor. Gene analysis revealed a missense mutation of MEN1 as c. 415C>T and p. His139Tyr(H139Y), which was predicted highly hazard. Only five cases of thyrotropinoma in MEN1 were previously reported. \u0000 \u0000 \u0000Conclusion \u0000Thyrotropinoma should be cautiously identified from hyperthyroidism to avoid misdiagnosis and mistreatment, and it should keep in mind that thyrotropinoma may be associated with MEN1 though it would be very rare. \u0000 \u0000 \u0000Key words: \u0000Thyrotropinoma; Multiple endocrine neoplasia type 1; Hyperthyroidism; Hyperparathyroidism; MEN1 gene; Silent pancreatic neuroendocrine tumor","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"43-50"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47930461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.007
Shuxia Guo, Lei Mao, P. Liao, R. Ma, Xiang-hui Zhang, Heng Guo, Jia He, Yunhua Hu, Xin-ping Wang, Jiao-long Ma, Jia-ming Liu, La-ti Mu, Yizhong Yan, Jingyu Zhang, Kui Wang, Yan-peng Song, Wenwen Yang, Wushoer Puerhati
Objective To construct and confirm a predictive model for the risks of cardiovascular diseases (CVD) with metabolic syndrome (MS) and its factors in Xinjiang Kazakh population. Methods A total of 2 286 Kazakh individuals were followed for 5 years from 2010 to 2012 as baseline survey. They were recruited in Xinyuan county, Yili city, Xinjiang. CVD cases were identified via medical records of the local hospitals in 2013, 2016 and 2017, respectively. Factor analysis was performed on 706 MS patients at baseline, and main factors, age, and sex were extracted from 18 medical examination indexs to construct a predictive model of CVD risk. After excluding the subjects with CVD at baseline and incomplete data, 2007 were used as internal validation, and 219 Kazakhs in Halabra Township were used as external validation. Logistic regression discriminations were used for internal validation and external validation, as well as to calculate the probability of CVD for each participant and receiver operating characteristic curves. Results The prevalence of MS in Kazakh was 30.88%. Seven main factors were extracted from the Kazakh MS population, namely obesity factor, blood lipid and blood glucose factor, liver function factor, blood lipid factor, renal metabolic factor, blood pressure factor, and liver enzyme factor. The area under the curve (AUC) for predicting CVD in the internal validation was 0.773 (95%CI 0.754-0.792). In the external validation, the AUC for predicting CVD was 0.858 (95%CI 0.805-0.901). Conclusions The CVD risk prediction model constructed by 7 main factors extracted from Kazakh MS patients has high validation efficiency and can be used for risk assessment of CVD in Xinjiang Kazakh population. Key words: Metabolic syndrome; Factor analysis; Cardiovascular diseases; Risk predictive model; Kazakh
{"title":"Using metabolism related factors constructing a predictive model for the risk of cardiovascular diseases in Xinjiang Kazakh population","authors":"Shuxia Guo, Lei Mao, P. Liao, R. Ma, Xiang-hui Zhang, Heng Guo, Jia He, Yunhua Hu, Xin-ping Wang, Jiao-long Ma, Jia-ming Liu, La-ti Mu, Yizhong Yan, Jingyu Zhang, Kui Wang, Yan-peng Song, Wenwen Yang, Wushoer Puerhati","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.007","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.007","url":null,"abstract":"Objective \u0000To construct and confirm a predictive model for the risks of cardiovascular diseases (CVD) with metabolic syndrome (MS) and its factors in Xinjiang Kazakh population. \u0000 \u0000 \u0000Methods \u0000A total of 2 286 Kazakh individuals were followed for 5 years from 2010 to 2012 as baseline survey. They were recruited in Xinyuan county, Yili city, Xinjiang. CVD cases were identified via medical records of the local hospitals in 2013, 2016 and 2017, respectively. Factor analysis was performed on 706 MS patients at baseline, and main factors, age, and sex were extracted from 18 medical examination indexs to construct a predictive model of CVD risk. After excluding the subjects with CVD at baseline and incomplete data, 2007 were used as internal validation, and 219 Kazakhs in Halabra Township were used as external validation. Logistic regression discriminations were used for internal validation and external validation, as well as to calculate the probability of CVD for each participant and receiver operating characteristic curves. \u0000 \u0000 \u0000Results \u0000The prevalence of MS in Kazakh was 30.88%. Seven main factors were extracted from the Kazakh MS population, namely obesity factor, blood lipid and blood glucose factor, liver function factor, blood lipid factor, renal metabolic factor, blood pressure factor, and liver enzyme factor. The area under the curve (AUC) for predicting CVD in the internal validation was 0.773 (95%CI 0.754-0.792). In the external validation, the AUC for predicting CVD was 0.858 (95%CI 0.805-0.901). \u0000 \u0000 \u0000Conclusions \u0000The CVD risk prediction model constructed by 7 main factors extracted from Kazakh MS patients has high validation efficiency and can be used for risk assessment of CVD in Xinjiang Kazakh population. \u0000 \u0000 \u0000Key words: \u0000Metabolic syndrome; Factor analysis; Cardiovascular diseases; Risk predictive model; Kazakh","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"51-57"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46112674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-25DOI: 10.3760/CMA.J.ISSN.1000-6699.2020.01.003
Jia Yu, Wenli Yang, Jie Yan, Min Liu, Cheng Zhu, G. Ni, Yanmei Sang
Objective To summarize the clinical characteristics of 6 children with Hutchinson-Gilford progeria syndrome, and to analyze the pathogenic genes carried by some patients. Methods The clinical data of 6 patients were summarized. The pathogenic genes of 4 families were analyzed. Genomic DNA was extracted from 3ml of the subject′s blood with EDTA anticoagulation. The first-generation sequencing technology was used to analyze the sequence of Lamin A/C(LMNA) gene and to identify the pathogenic mutation sites by comparing with normal sequencing results. Results All the children had typical clinical manifestations of the disease which has been previously reported in the literature, such as severe growth retardation, special skin manifestations, and distinctive craniofacial manifestations.Gene sequencing results revealed that 2 patients carried classical heterozygous mutation of LMNA c. 1824C>T(p.G608G). The other two patients carried atypical mutations of LMNA IVS8-4 C>A and c. 1968+ 2T>C, among which the mutation of IVS8-4 C>A has not been reported. Conclusions In Chinese children, both classical and non-classical mutations in LMNA gene lead to the occurrence of premature aging. It is easy to make a diagnosis based on clinical manifestations. Finding of the pathogenic gene may further confirm the diagnosis. Key words: Hutchinson-Gilford Progeria syndrome; LMNA gene; Progeria
{"title":"Analysis on six cases of Hutchinson-Gilford progeria syndrome","authors":"Jia Yu, Wenli Yang, Jie Yan, Min Liu, Cheng Zhu, G. Ni, Yanmei Sang","doi":"10.3760/CMA.J.ISSN.1000-6699.2020.01.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1000-6699.2020.01.003","url":null,"abstract":"Objective \u0000To summarize the clinical characteristics of 6 children with Hutchinson-Gilford progeria syndrome, and to analyze the pathogenic genes carried by some patients. \u0000 \u0000 \u0000Methods \u0000The clinical data of 6 patients were summarized. The pathogenic genes of 4 families were analyzed. Genomic DNA was extracted from 3ml of the subject′s blood with EDTA anticoagulation. The first-generation sequencing technology was used to analyze the sequence of Lamin A/C(LMNA) gene and to identify the pathogenic mutation sites by comparing with normal sequencing results. \u0000 \u0000 \u0000Results \u0000All the children had typical clinical manifestations of the disease which has been previously reported in the literature, such as severe growth retardation, special skin manifestations, and distinctive craniofacial manifestations.Gene sequencing results revealed that 2 patients carried classical heterozygous mutation of LMNA c. 1824C>T(p.G608G). The other two patients carried atypical mutations of LMNA IVS8-4 C>A and c. 1968+ 2T>C, among which the mutation of IVS8-4 C>A has not been reported. \u0000 \u0000 \u0000Conclusions \u0000In Chinese children, both classical and non-classical mutations in LMNA gene lead to the occurrence of premature aging. It is easy to make a diagnosis based on clinical manifestations. Finding of the pathogenic gene may further confirm the diagnosis. \u0000 \u0000 \u0000Key words: \u0000Hutchinson-Gilford Progeria syndrome; LMNA gene; Progeria","PeriodicalId":10120,"journal":{"name":"Chinese Journal of Endocrinology and Metabolism","volume":"36 1","pages":"25-30"},"PeriodicalIF":0.0,"publicationDate":"2020-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42371347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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