A Case Report of Marfan Syndrome with Pituitary Tumor Which Could be Misdiagnosed as Gigantism / 罕见病研究

Marfan syndrome (MFS) is an autosomal dominant disorder that is prone to fibrodysplasia, lens dislocation and rapid height growth, which needs to be distinguished from gigantism. This article reports a 14-year-old patient with MFS who had a typical binocular lens subluxation in both eyes, with visual impairment and rapid height growth. MRI with contrast to the pituitary suggested a pituitary microadenoma, but growth hormone and insulin-like growth factor 1 were in the normal range, thus excluding gigantism or acromegaly. Non-functional pituitary adenoma was considered. MFS patients need long-term follow-up and multidisciplinary collaboration, and attention should be paid to cardiovascular system monitoring and genetic testing, which can be helpful for the diagnosis and treatment of patients and risk prevention and control.

Clinical Research Progress of the Non-Peptide Oral Somatostatin Receptor Ligand Paltusotine / 罕见病研究

The research and development of somatostatin analogues is a hot area in endocrinology and metabolism. The first generation octreotide, lanreotide and the second generation pareotide have been approved to be effective for the treatment of neuroendocrine tumors such as acromegaly. However, paltusotine, a somatostatin receptor ligand, is a novel non-peptide small molecule drug which can be administered orally and inhibits excessive secretion of growth hormone and insulin-like growth factor 1. This review summarizes the research progress of the pharmacokinetics, pharmacodynamics, clinical efficacy, telerability, and safety of paltusotine.

Advances in the risk relationship between glucagon-like peptide-1 receptor agonists and diabetic retinopathy / 中华眼底病杂志

Diabetic retinopathy (DR) is one of the most serious complications of diabetes mellitus. Severe diabetic macular edema or proliferative retinopathy may lead to impaired vision or even blindness in diabetic patients. The glucagon-like peptide-1 receptor agonist (GLP-1RA) is now commonly used as novel glucose-lowering agents in the clinical management of type 2 diabetes, but the rapid glycaemic changes associated with the use of the GLP-1RA may aggravate the risk of an increase in the occurrence of short-term potential DR. Potential effects and mechanisms of DR include oxidative stress, vascular endothelial growth factor, inflammation, retinal neurodegeneration, and other cytokines.Whether GLP-1RA leads to the increased risk of DR remains controversial. More basic and clinical studies are needed with the aim of further clarifying the correlation between GLP-1RA and DR risk.

Clinical characteristics and heterogeneity in patients with ketosis-prone diabetes / 中华内分泌代谢杂志

Objective To investigate the clinical characteristics,peripheral insulin sensitivity,and β-cell function in patients with ketosis-prone diabetes(KPD).Methods Thirty-one patients with newly diagnosed ketosisprone diabetes were admitted to West China Hospital from January 2004 to December 2009.They were divided into 2 groups according to their body mass index (BMI):OB-KPD (BMI ≥ 25 kg/m2,n =22) and Lean-KPD (BMI ＜ 23 kg/m2,n =9).10 patients with newly-onset type 2 diabetes free from ketosis (OB-DM:BMI ≥ 25 kg/m2,n =10) were enlisted as control.Detailed assessments of medical history and symptoms of hyperglycemia were performed.The islet cell antibody (ICA),insulin autoantibody (IAA),anti-glutamic acid decarboxylase antibody (GAD-Ab),fasting plasma glucose,serum insulin,C-peptide and free fat acids concentrations were measured.All of the subjects underwent oral and intravenous glucose tolerance tests,euglycemic-hyperinsulinemia and hyperglycemia clamp test,to evaluate the insulin secretion and insulin sensitivity respectively.Insulin sensitivity was determined by glucose disposal rate (GDR) of steady state during euglycemic clamp and acute insulin secretion was calculated by insulin area under curve(AUCins 0-10 min) during IVGTT.Maximal insulin secretion was determined by glucose infusion rate (GIR) and serum insulin concentration of steady state during hyperglycemic clamp test.Results Age,sex,duration of diabetes were matched among groups.A family history of diabetes was strongly associated with those patients with obesity,compared with lean ketosis prone diabetes(16/22 vs 1/9).GDR was (4.91 ± 1.82) mg · kg 1 · min-1 in subjects with OB-KPD,being lower than that in Lean-KPD patients[(6.26 ± 1.89) mg · kg 1 · min-1] and OB-DM group[(6.78-± 1.69) mg · kg 1 · min-1,P＜0.01].Serum insulin and C-peptide in OB-KPD patients were higher than Lean-KPD patients.Area under the insulin curve [AUCins0-10min (183.86 ± 31.1) mIU/L] and GIR[(2.65 ±1.53) mg · kg-1 · min-1] in OB-KPD patients were lower than those in OB-DM group[(697.06-± 231.9) mIU/L,(6.53 ± 2.21)mg · kg 1 · min-1,P＜0.0 1],but slightly higher than the Lean-KPD group [AUCins0 10min (92.1 ±29.8) mUU/L,GIR (2.55 ± 1.49) mg · kg 1 · min-1,P＜0.05].Glucose disposal rate (GDR) was strongly associated with casual plasma glucose (r =-0.502,P＜0.01),HbA1C(r =-0.553,P＜0.0 1) and FFA eoneentrations (r=-0.504,P＜0.01) on admission.Conclusions Insulin resistance and β-cell dysfunction coexist in all KPD patients.OB-KPD patients exhibit more severe insulin resistance,while Lean-KPD patients have lower insulin secretion.KPD patients had severe hyperglycemia,hypertriglyceridemia,and high plasma FFA levels on admission,suggesting that hyperglycemia and elevated FFA levels could result in serious insulin resistance,β-cell dysfunction,and diabetic ketosis in patients with KPD.

Recent progress in study of oral insulin delivery / 生物医学工程学杂志

Pharmaceutical researchers at home and abroad have been working in pursuit of an effective, easy-to-use and safe way of non-injecting insulin administration. Oral insulin was considered to be one of the ideal administration ways for the treatment of diabetes mellitus. In this review, we introduce the clinical value and progress of oral insulin delivery in recent years. The mechanisms, therapeutic effect, limitations of oral insulin delivery, and the future perspectives in this research field are also discussed.

Combination of glucotoxicity and lipitoxicity impairs pancreatic β-cell function / 中华内分泌代谢杂志

The effects of elevated levels of glucose and (or) free fatty acids on insulin secretion were studied in obese rats by intravenous glucose tolerance test and isolated pancreas perfusinn. The results showed that both glucose- and arginine-stimulated insulin secretions were severely impaired by glucolipotoxicity and the production of ketone was increased dramatically.

Ketosis-prone type 2 diabetes mellitus / 医学研究生学报

Ketosis-prone diabetes mellitus(KPDM) may be a subtype of type 2 diabetes,characterized by fulminant onset,with diabetic ketoacidosis and usually obesity and over-weight,as well as a positive family history of diabetes,but lacking markers of autoimmunity observed in classic type 1 diabetes.Recovery of glucose homeostasis,accompanied by recovery of ?-cell function,follows intensive glycemic regulation by insulin.Because of the mixed features of type 1 and type 2 diabetes,there is no completely agreement on diagnostic criteria and classification according to clinic presentation,metabolic and immunologic features of the novel atypical diabetes.Additional pathophysiological and genetic insight is therefore needed to provide a better understanding of the mechanisms of partially reversible insulin secretary defect in such syndrome,which is critical for its clinical classification and the development of appropriate treatment strategies.