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Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the TBX3 gene. This paper reported a family of UMS. The proband, a 15-year old man, was presented with mammary gland dysplasia, ulnar limb defect, short stature, and delayed growth. Whole exome sequencing revealed a 1294_1301dup mutation in exon 6 of the TBX3 gene. Sanger sequencing was used to verify other members of the family, which suggested his mother also carried the same mutation, but merely resulting in the dysplasia of her left little finger. Notably, unilateral finger involvement without any systemic organ involvement was unusual in UMS patients. The proband then was treated with recombinant human growth hormone (rhGH) and human chorionic gonadotropin (hCG). After a year and a half, his height and secondary sexual characteristics were significantly improved. The clinical manifestations of the disease are highly heterogeneous, which is easy to be misdiagnosed and missed. When the diagnosis is unclear, genetic testing is helpful for auxiliary diagnosis.
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Humanos , Masculino , Feminino , Adolescente , Proteínas com Domínio T/genética , População do Leste Asiático , Doenças Mamárias/genética , MutaçãoRESUMO
Objective:To outline clinical features in syndrome of resistance to thyroid hormone(RTH) and thyrotropin-secreting pituitary adenoma(TSH adenoma) based on a case series, and to assess the value of octreotide suppression test and high-dose dexamethasone suppression test(HDDST) in differentiating the two diseases.Methods:A total of 22 cases with RTH and TSH adenoma clinically diagnosed in Xiangya Hospital of Central South University from October 2010 to December 2021 were retrieved. The clinical characteristics of the two diseases and results to different tests were analyzed and summarized.Results:(1) The tumors in TSH adenoma patients were larger than those with RTH complicated with pituitary mass, which presented chiasmatic compression on images( P<0.05). (2) In octreotide suppression test, thyrotropin(TSH) inhibition rate in RTH patients was lower than that in TSH adenoma patients( P<0.05). In HDDST, TSH inhibition rate was higher in patients with RTH than in patients with TSH adenoma( P<0.05). (3) The TSH inhibition rate was calculated by receiver operating characteristic(ROC) curve. The sensitivity and specificity of octreotide suppression test were 91.9% and 55.6%, respectively, and the threshold value of TSH inhibition rate was 64.24%. The sensitivity and specificity of HDDST were 54.4% and 89.0%, respectively, and the threshold value of TSH inhibition rate was 65.73%.The combined sensitivity and specificity of the two tests were 77.8% and 90.9%, indicating better diagnostic value( P<0.05). Conclusions:The combination of octreotide suppression test and HDDST is of clinical value in differentiating RTH from TSH adenoma. TSH adenoma is more aggressive than that of pituitary adenoma with RTH.
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BackgroundThe severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has progressed to a pandemic associated with substantial morbidity and mortality. The WHO and the United States Center for Disease Control and Prevention (CDC) have issued interim clinical guidance for management of patients with confirmed coronavirus disease (COVID-19), but there is limited data on the virologic and clinical characteristics for prognosis of severe COVID-19. MethodsA total of 50 patients with severe COVID-19 were divided into good and poor recovery groups. The dynamic viral shedding and serological characteristics of SARS-CoV-2 were explored. The risk factors associated with poor recovery and lung lesion resolutions were identified. In addition, the potential relationships among the viral shedding, the pro-inflammatory response, and lung lesion evolutions were characterized. ResultsA total of 58% of the patients had poor recovery and were more likely to have a prolonged interval of viral shedding. The longest viral shedding was 57 days after symptom onset. Older age, hyperlipemia, hypoproteinemia, corticosteroid therapy, consolidation on chest computed-tomography (CT), and prolonged SARS-CoV-2 IgM positive were all associated with poor recovery. Additionally, the odds of impaired lung lesion resolutions were higher in patients with hypoproteinemia, hyperlipemia, and elevated levels of IL-4 and ferritin. Finally, viral shedding and proinflammatory responses were closely correlated with lung lesion evolutions on chest CT. ConclusionsPatients with severe COVID-19 have prolonged SARS-CoV-2 infection and delayed intermittent viral shedding. Older age, hyperlipemia, hypoproteinemia, corticosteroid usage, and prolonged SARS-CoV-2 IgM positive might be utilized as predicative factors for the patients with poor recovery.
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Objective To investigate sitagliptin and repaglinide could ameliorate endothelial function in newly diagnosed type 2 diabetes patients and to explore its mechanism.Methods A total of 92 newly diagnosed type 2 diabetes patients with glycated hemoglobin A1c (HbA1c) from 6.5％ to 8.5％ was randomly assigned to sitagliptin group(n =46) receiving sitagliptin,and repaglinide group (n =46) receiving repaglinide for 12 weeks.The effect of sitagliptin on vascular endothelial function was measured with endothelium-dependent flow-mediated vasodilation (FMD).FMD,level of serum nitric oxide (NO),plasminogen activator inhibitor-1 (PAI-1) and biochemical variables in the two groups were measured at baseline and 12 weeks after treatment.Results Fasting blood glucose (FBG),postprandial blood glucose (PBG),and HbA1c decreased significantly both in sitagliptin and repaglinide groups after treatment,but the descent more significantly in the repaglinide group than those in the sitagliptin group (P ＜ 0.05).FMD,NO,and homeostasis model assessmentβ (HOMA-[β) were increased,and PAI-1 and homeostasis model assessment-insulin resistance (HOMR-IR) decreased in both two groups of patients (P ＜ 0.05).FMD,NO,and PAI-1 improved more significantly in sitagliptin groups (P ＜ 0.05).With FMD as dependent variables,multiple linear regression analysis showed that NO was a major protection factors of endothelial function,and PAI-1 and mean artery pressure (MAP) were major injury factors of endothelial function.Furthermore,with /FMD as the dependent variable,FMD as the dependent variable,and body mass index (BMI),MAP,HbA1c,HOMA-IR,triglycerides (TG),NO,and PAI-1 as a covariate-linear analysis of covariance showed that improved FMD with NO and PAI-1 were still relevant after treatment with sitagliptin.Conclusions Sitagliptin could improve vascular endothelial function evaluated by FMD better than repaglinide in newly diagnosed type 2 diabetes,the partial mechanism was related to the increase of NO level and the decrease of PAI-1 level,and the effect may be independent of the hypoglycemic effect.
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Objective:To investigate relationships between serum chemerin and bone mineral density (BMD) in patients with newly diagnosed Graves disease (GD).Methods:A total of 120 newly diagnosed GD patients with a course more than 3 months were enrolled from the Department of Endocrinology between June 2013 and June 2015.Sixty age-and sex-matched healthy people served as a normal control.Serum levels of chemerin,β-crosslaps (β-CTX),and N-MID-osteocalcin (N-MID-OT) were measured by ELISA.Fat mass and BMD were evaluated by dual energy X-ray absorptiometry (DEXA).Results:Compared with the normal control,the fat mass,lean weight,fat mass index (FMI) and body mass index (BMI) in the GD group were decreased,and BMD in all skeletal sites was decreased.There was a positive correlation between them (all P<0.05).Serum level of chemerin was increased and it was positively correlated with β-CTX or N-MID-OT level and negatively correlated with fat mass,FMI or BMI in the GD group.There was a negative correlation between chemerin level and BMD in femoral neck,total hip,lumbar or right forearm distal 1/3 (rs=-0.352,-0.279,-0.379,-0.289,-0.394;P<0.05).After adjusting for age,fat mass or BMI,the correlation of chemerin with total hip or bone mineral density remained significant (rs=-0.273,-0.378;P<0.05).Multiple linear regression analysis revealed that chemerin or BMI was correlated with BMD (P<0.05).Conclusion:The decrease of bone mineral density in patients with GD is not only related to the direct or indirect effect of excessive thyroid hormones on systemic and osteoblastic cells,but it is also related to the negative regulation of bone metabolism due to the elevated chemerin level.
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Objective To investigate sitagliptin and repaglinide could ameliorate endothelial function in newly diagnosed type 2 diabetes patients and to explore its mechanism.Methods A total of 92 newly diagnosed type 2 diabetes patients with glycated hemoglobin A1c (HbA1c) from 6.5％ to 8.5％ was randomly assigned to sitagliptin group(n =46) receiving sitagliptin,and repaglinide group (n =46) receiving repaglinide for 12 weeks.The effect of sitagliptin on vascular endothelial function was measured with endothelium-dependent flow-mediated vasodilation (FMD).FMD,level of serum nitric oxide (NO),plasminogen activator inhibitor-1 (PAI-1) and biochemical variables in the two groups were measured at baseline and 12 weeks after treatment.Results Fasting blood glucose (FBG),postprandial blood glucose (PBG),and HbA1c decreased significantly both in sitagliptin and repaglinide groups after treatment,but the descent more significantly in the repaglinide group than those in the sitagliptin group (P ＜ 0.05).FMD,NO,and homeostasis model assessmentβ (HOMA-[β) were increased,and PAI-1 and homeostasis model assessment-insulin resistance (HOMR-IR) decreased in both two groups of patients (P ＜ 0.05).FMD,NO,and PAI-1 improved more significantly in sitagliptin groups (P ＜ 0.05).With FMD as dependent variables,multiple linear regression analysis showed that NO was a major protection factors of endothelial function,and PAI-1 and mean artery pressure (MAP) were major injury factors of endothelial function.Furthermore,with /FMD as the dependent variable,FMD as the dependent variable,and body mass index (BMI),MAP,HbA1c,HOMA-IR,triglycerides (TG),NO,and PAI-1 as a covariate-linear analysis of covariance showed that improved FMD with NO and PAI-1 were still relevant after treatment with sitagliptin.Conclusions Sitagliptin could improve vascular endothelial function evaluated by FMD better than repaglinide in newly diagnosed type 2 diabetes,the partial mechanism was related to the increase of NO level and the decrease of PAI-1 level,and the effect may be independent of the hypoglycemic effect.
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OBJECTIVE@#To determine serum levels of betatrophin in patients with polycystic ovary syndrome (PCOS) and the influential factors. @*METHODS@#A total of 100 PCOS patients were enrolled randomly as a PCOS group, and 40 age-matched healthy women were recruited as a normal control (NC) group. Primary clinical or biochemical parameters of the subjects were detected. The results were analyzed by SPSS 19.0. @*RESULTS@#Serum betatrophin levels were elevated in the PCOS group compared with the NC group. Serum betatrophin levels were positively correlated with age and Whole Body Insulin Sensitivity Index (WBISI),and negatively correlated with body mass index, fasting insulin(FINS), homeostatic model assessment insulin resistance (HOMA-IR) and homeostatic model assessment β cell function (HOMA-β). Multiple linear stepwise regression analysis showed that age and waist hip ratio (WHR) were independent influential factors for the level of betatrophin. PCOS was more likely to occur in women with higher betatrophin levels. @*CONCLUSION@#Serum betatrophin levels increase in women with PCOS and they are independently associated with age and WHR. There is no significant correlation between betatrophin and insulin resistance or insulin levels.
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Adulto , Feminino , Humanos , Fatores Etários , Proteínas Semelhantes a Angiopoietina , Sangue , Biomarcadores , Sangue , Índice de Massa Corporal , Estudos de Casos e Controles , Insulina , Sangue , Resistência à Insulina , Células Secretoras de Insulina , Hormônios Peptídicos , Sangue , Síndrome do Ovário Policístico , Sangue , Relação Cintura-QuadrilRESUMO
Objective To investigate the preventive effect of complete Freund's adjuvant induced thymocyte apoptosis on NOD mice with type 1 diabetes.Methods Forty-two female NOD mice of 3 weeks old were randomly divided into complete Freund's adjuvant group(CFA)and phosphate buffer saline group(PBS)(21 each).Animals of CFA group received injection of 50?l CFA at hind foot-pad,and those in PBS group received 50?l PBS at the same location.Five mice of each group were sacrificed at the 6th and 12th week,respectively,and the remainders of each group were sacrificed at the 30th week for the examination of insular ? cell apoptosis,thymocytes apoptosis,insulitis severity and diabetes incidence.Results Both the insulitis severity score and the ? cell apoptosis declined(P
