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Objective To confirm a case of pachydermoperiostosis (primary hypertrophic osteoarthropathy) at the molecular level by gene sequencing.Methods Peripheral blood samples were obtained from a 26-year-old male patient with pachydermoperiostosis and his parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR) was performed to amplify all the exons of HPGD and SLCO2A1 genes,and gene sequencing to identify gene mutations.According to sequencing results,the spatial structure of relevant proteins was predicted.Results Gene sequencing showed a homozygous frame-shifting mutation c.310_31 1delCT (p.L104AfsX3) in exon 3 of the HPGD gene in the patient.His mother was a heterozygous carrier of the mutation,but no mutation was identified in his father.The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide by about 60％.Conclusion Typical clinical manifestations and imaging findings are helpful for the primary diagnosis of pachydermoperiostosis,while mutation analysis of HPGD and SLCO2A1 genes is a main approach to its final diagnosis.
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[Summary] To discuss the clinical features and treatment of primary adrenal lymphoma( PAL) with empty sella(ES).The lymphoma of the patient was nonspecific,the levels of serum sodium, cortisol, adrenocorticotropic hormone, and gonadotropin were decreased.MRI confirmed ES, CT showed bilateral adrenal enlargement.CT-guided fine-needle aspiration biopsy of the adrenal gland revealed a cytological diagnosis of diffused large B cell lymphoma( DLBCL).The patient had received R-CHOP chemotherapy, which results in a complete functional recovery and the tumoral masses disappeared.PAL combined with ES was rarely reported, which is difficult to diagnose due to complex hormone levels.
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Objective To analyze the clinical data of patients with Cushing's syndrome(CS)and to un-derstand the relationship between glucose metabolism and CS .Methods Oral glucose tolerance test (OGTT), the level of insulin, body mass index(BMI), 24-hour urinary free cortisol(24h UFC), family history of diabetes in patients with CS were retrospectively analyzed .Results The course of disease in patients of CS complicated with diabetes mellitus ( CS/DM) group was longer than CS complicated with impaired glucose tolerance ( CS/IGT) and CS complicated with normal glucose tolerance (CS/NGT)group.66.67%of patients with CS/NGT have insu-lin resistance .Logistic regression analysis indicated that age , course of disease , midnight plasma cortisol were risk factors of CS induced diabetes mellitus .CS/DM group had higher proportion of family history of diabetes . 24h UFC and BMI had no significant differences among the three groups (P>0.05).Conclusions Age, course of disease , midnight plasma cortisol are risk factors of CS induced diabetes mellitus .OGTT and insulin level de-termination are necessary for diagnosis and intervention treatment at the early stage .
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Objective To investigate the effect of age on the association between normal thyroid hormone level and coronary artery disease (CAD).Methods A total of 1163 euthyroid patients undergoing coronary angiography (CAG) from January 2013 to June 2014 were enrolled and categorized into 2 groups:the young and middle-aged group (＜60 years,n=602) and the elderly group (≥60 years,n=561),and each group was sub grouped into the CAD and non-CAD group according to CAG.Height,body weight,and levels of serum lipid,fasting blood glucose,glycosylated hemoglobin,free triiodothyronine (FT3),free thyroxine (FT4) and thyroid-stimulating hormone (TSH) were measured.Results In the youth and middle-aged group,309 patients (51.3％) were diagnosed as CAD,and there was no significant difference in the levels of FT3,FT4 and TSH between CAD and non-CAD patients [(5.3±0.6)mmol/L vs.(5.3±0.5)mmol/L,(11.8 ±1.9)mmol/L vs.(11.8±1.8) mmol/L,(2.0±1.1) mIU/L vs.(2.0±1.0)mIU/L,all P＞0.05].In the elderly group,357 patients (63.6％) were diagnosed as CAD,and the FT3 level was lower in the CAD patients than in the non-CAD patients[(5.1±0.6)mmol/L vs.(5.2±0.5) mmol/L,P＜0.01].Logistic regression demonstrated that FT3 was an independent influencing factor for CAD in elderly patients (OR=0.564,P＜0.01).Conclusions The association between normal thyroid hormones levels and CAD varies along with age.Thyroid hormones have no relationships with CAD in the young and middle-aged people.The decline of FT3 level may increase the risk of CAD in the elderly.