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Hong-Fa Yan, Zhao-Yu Liu, Zhi-Ang Guan and Chuang Guo

the immune response, is centered around lifestyle modification and pharmacological intervention ( 2 , 3 ), although anti-diabetic drugs and insulin are not generally associated with weight loss ( 4 ). However, dysregulation of iron homeostasis and the

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Aleksandra Krygier, Ewelina Szczepanek-Parulska, Dorota Filipowicz and Marek Ruchała

Introduction In the biochemical landscape of thyroid dysfunction, iron (Fe) homeostasis abnormalities are frequently observed ( 1 , 2 ). The prevalence of anaemia in overt hyperthyroidism was found to be higher (14.6%) than in overt

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Tingting Shu, Zhigang Lv, Yuchun Xie, Junming Tang and Xuhua Mao

Introduction Hepcidin is synthesized and secreted primarily in the liver and is a key regulator in iron metabolism ( 1 , 2 ). In 2008, Kulaksiz et al. first reported that hepcidin was expressed in human and rat islet tissues and only

Open access

Vickie Braithwaite, Kerry S Jones, Shima Assar, Inez Schoenmakers and Ann Prentice

concentration and iron status (2, 13, 14, 15, 16, 17) . As well as being regulated by FGF23, 1,25(OH) 2 D production is controlled by parathyroid hormone (PTH) (18) . PTH is secreted by the parathyroid glands in response to low circulating ionised Ca

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

Pheochromocytoma and paragangliomas (PCC/PGL) are neuroendocrine tumors that arise from chromaffin cells of the adrenal medulla and sympathetic/parasympathetic ganglia, respectively. Of clinical relevance regarding diagnosis is the highly variable presentation of symptoms in PCC/PGL patients. To date, the clear-cut correlations between the genotypes and phenotypes of PCC/PGL have not been entirely established. In this study, we reviewed the medical records of PCC/PGL patients with pertinent clinical, laboratory and genetic information. Next-generation sequencing (NGS) performed on patient samples revealed specific germline mutations in the SDHB (succinate dehydrogenase complex iron-sulfur subunit B) and SDHD (succinate dehydrogenase complex subunit D) genes and these mutations were validated by Sanger sequencing. Of the 119 patients, two were identified with SDHB mutation and one with SDHD mutation. Immunohistochemical (IHC) staining was used to analyze the expression of these mutated genes. The germline mutations identified in the SDH genes were c343C>T and c.541-542A>G in the SDHB gene and c.334-337delACTG in the SDHD gene. IHC staining of tumors from the c.343C>T and c.541-2A>G carriers showed positive expression of SDHB. Tumors from the c.334-337delACTG carrier showed no expression of SDHD and a weak diffused staining pattern for SDHB. We strongly recommend genetic testing for suspected PCC/PGL patients with a positive family history, early onset of age, erratic hypertension, recurrence or multiple tumor sites and loss of SDHB and/or SDHD expression. Tailored personal management should be conducted once a patient is confirmed as an SDHB and/or SDHD mutation carrier or diagnosed with PCC/PGL.

Open access

Xuhua Mao, Hucheng Chen, Junmin Tang, Liangliang Wang and Tingting Shu

human blood in 2000 ( 10 ), was shown to be a central regulator of iron metabolism expressed most abundantly in the liver ( 11 , 12 ). Subsequent studies showed that hepcidin is also expressed in the insulin-storing pancreatic β-cells ( 13

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Monika Bilic, Huma Qamar, Akpevwe Onoyovwi, Jill Korsiak, Eszter Papp, Abdullah Al Mahmud, Rosanna Weksberg, Alison D Gernand, Jennifer Harrington and Daniel E Roth

concentrations result from a variety of potential factors, such as heritable polymorphisms and ethnicity ( 17 , 18 ). In pregnancy, insufficient maternal micronutrient intake (particularly iron and calcium) has been associated with reduced fetal IGF

Open access

Luca Persani, Biagio Cangiano and Marco Bonomi

hypothalamic/pituitary region, although head trauma, vascular accidents, autoimmunity, hemochromatosis or iron overload and several iatrogenic causes are also accountable for several CeH cases. Acquired CeH is definitely more common in the adulthood and is

Open access

Annieke C G van Baar, Andrei Prodan, Camilla D Wahlgren, Steen S Poulsen, Filip K Knop, Albert K Groen, Jacques J Bergman, Max Nieuwdorp and Evgeni Levin

MetS have higher hemoglobin levels due to increased iron absorption ( 21 ). Higher L cell density and higher glycine levels indicate a healthier phenotype, supported by lower hemoglobin levels and lower waist–hip ratio. The postprandial GLP-1 response

Open access

Agnès Linglart, Martin Biosse-Duplan, Karine Briot, Catherine Chaussain, Laure Esterle, Séverine Guillaume-Czitrom, Peter Kamenicky, Jerome Nevoux, Dominique Prié, Anya Rothenbuhler, Philippe Wicart and Pol Harvengt

function in human monocytes (3) , iron (4, 5) , glucose (6) and lipid metabolism (7, 8) . Table 1 Causes of hypophosphatemic rickets (HR). Gene Transmission Reference Main features HR sharing elevated FGF23 circulating levels and inappropriately low or