Articles

Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by poikiloderma (skin atrophy, telangiectasia, hyper- and hypopigmentation), congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease. Two siblings with Rothmund-Thomson Syndrome showed the following characteristic features: severe growth failure, dystrophic nails, absent eyelashes/eyebrows, small hands, clinodactyly, microdontia and congential poikiloderma. In addition, delayed sexual development with cryptorchidism in the male and Hashimato thyroiditis in the female patient were detected. These cases are presented here because of these endocrine patterns, with the aim of drawing attention to the invisible aspects of Rothmund-Thomson syndrome.

Aim: The aim of the present study is to assess the efficacy and safety of Hydroxychloroquine in comparison with Teneligliptin in type 2 diabetes patients whose blood glucose levels were inadequately controlled with metformin, Glimepiride and insulin therapy. Methods: This was a randomized, prospective, parallel-group, experimental trial done in 300 Type 2 Diabetes patients who were uncontrolled (HbA1c=7.5–10%) with metformin, Glimepiride and insulin therapy. Patients were randomly divided into two groups one received Teneligliptin 20 mg (n=152) and other received Hydroxychloroquine 400 mg (n=148) while continuing insulin therapy with other 2 OHA. Insulin doses were adjusted to maintain normal blood glucose levels. Result: The adjusted mean change from baseline to endpoint in HbA1c was −1.2±0.5% in patient group receiving Hydroxychloroquine and −0.9±0.5% in patients group receiving Teneligliptin, respectively, with a significant between-treatment difference (p<0.001). The incidence of adverse events was similar in the Hydroxychloroquine (72%) and Teneligliptin (77%) groups. However, hypoglycaemic events were less common (p<0.001) and less severe (p<0.05) in patients receiving Hydroxychloroquine than in those receiving Teneligliptin. Conclusion: Hydroxychloroquine decreases HbA1c in patients whose type 2 diabetes is poorly controlled with high doses of insulin as compare to Teneligliptin. Addition of hydroxychloroquine to insulin therapy is also associated with reduced incidence of confirmed and severe hypoglycaemia.

A 60-year-old man presented with an unusual history of lower limb flushing. A CT scan suggested a pancreatic neuroendocrine tumor. After a robotic distal pancreatectomy, his symptoms completely resolved. The tumor was positive for synaptophysin and chromogranin. This case emphasizes the importance of recognizing atypical features in patients, especially with an unusual skin presentation that might indicate rare tumor types.

Although exercise has been proposed to be beneficial to type 2 diabetes, its effects on β-cell function and mass remain unclear. In the present study, the effects of long-term swimming training on the function and mass of β-cells in diabetic OLETF rats were examined. At 44 weeks of age after developing diabetes, the OLETF rats were divided into two groups: a control group and an exercise group. The exercise group had a daily swimming for 12 weeks. While not found with the control rats, in the obese OLETF rats, the exercise reduced the weight gain which was associated with improved glucose tolerance and elevated circulating insulin levels as determined by the oral glucose tolerance test and insulin ELISA. The exercise improved plasma total cholesterol and triglyceride levels, and also significantly increased the islet β-cell mass and pancreatic insulin content associated with decreased β-cell apoptosis and elevated activation of the serine/threonine kinase, Akt. The present studies suggest that exercise improves diabetes symptoms via enhancement of the β-cell mass and function through decreasing glucolipotoxicity and reducing β-cell apoptosis by activating Akt in obese OLETF rats.

In this review After Observing biomedical literature (starting from some heart disease) results that some pathological phenomena are deeply involved in some metabolic endocrine condition: Kinetics and gradients in metabolism, catabolism, time related, toxic like effect, electrical cell membrane status, smooth vascular muscle cell hyper-reactivity, platelet iperactivations, central autonomic control after acute stroke, great electrolytes unbalances et other factors as pro-hypertrophic signaling and oxidative stress. Observing actual current therapy in some metabolic endocrine therapy often is used association of drugs (in example in type II diabetes). In Many other pathologies efficacy drug therapy exist, and often only 1 pharmacological molecule resolve the pathological condition. But in many disease even associating 2-3-4 drugs the % of cure not increase (efficacy, effectiveness). It mean that this drugs strategies are not the really best? Or it mean a low active level? Why for this pathological condition this association drugs in currently use not do the right works as really needed? There is the need for new really efficacy drugs strategy that show a profile of efficacy as requested in order to resolve the pathological condition? Or to be added to the actual therapy? The actual pharmacological strategies in some metabolic endocrine disorder is really the best? Or other strategies can be introduced?

The global obesity epidemic that was previously reported [1,2] is now to worsen with obesity to double in 73 countries around the world [3,4]. Improving the health of obese individuals by dietary restriction, anti-obese foods and increased physical activity [1] has not reduced the global obesity epidemic. Obesity is linked to nonalcoholic fatty liver disease (NAFLD) [5,6] with complications relevant to the metabolic syndrome and cardiovascular disease [7]. Appetite control has become critical to endocrinology and metabolism with the apelinergic pathway and nuclear receptor Sirtuin 1 (Sirt 1) now connected to the endocrine system [8] and critical to metabolism. The apelin-Sirt 1 interaction involves nitric oxide (NO) [9] that is now considered as the defect [10] in the interaction between the peptide apelin and calorie sensitive gene Sirt 1 involved in NO imbalances in the adipose tissue, liver and the brain.

Type 2 diabetes is a common disease in these days and day by day it is arising. The main focus of the study was to investigate association of packed cell volume (PCV), Mean Corpuscular Volume (MPV), Mean Corpuscular Hemoglobin Concentration (MCHC), Red Cell Distribution Width (RDW) with glycemic marker HbA1c. So that PCV, MPV, MCHC, RDW could be used as a predictor of glucoregulation in type 2 diabetes instead of HbA1c value. This study included 87 DMT2 patients, which divided into two groups, A (n=41, presence in diabetics≤6.5-6.9%) and B (n=46, target in diabetes≥7.0%), according to HbA1c values. Spearsman correlation co-efficients were calculated to evaluate the relationship between RBC count, MCHC, RDW with random blood sugar (RBS) and PCV, MCV, MCHC with HbA1c value. Binominal logistic regression analysis was performed to estimate the relationship between glycemic control, as dichotomous outcome of MCHC, RDW, PCV, and MCV as the main prognosticator. MCHC and RDW were significantly higher in the group B compared to the group A. RDW and MCHC may be applied as the auxiliary indicators of deterioration of glucoregulation.

Background: Hypoparathyroidism is well known to occur in thalassemia major patients, but it is thought to be uncommon and its incidence is considered to be decreasing with improvements in chelation therapy. The objective of this study was to assess the prevalence of parathyroid dysfunction in the first decade of life of the patients with thalassemia major. Patients and Methods: Ninety children with beta-thalassemia major (55 males and 35 females) with a mean age of 7.17±3.78 years (1-13 years) and age and sex matched control group of 60 healthy children (36 males and 24 females) with a mean age 6.98±3.66 years (1-13) years. Serum parathyroid hormone (PTH), serum total Calcium (Ca), serum phosphorus (P), serum alkaline phosphatase (ALP), serum 25-hydroxyvitamin D (25-OHD) and serum ferritin levels were measured. Result: PTH levels were higher than normal range in 23 (25.6%) patients with a mean value of 75.2±31.3 µg/mL compared to those having normal range level (35.3±15.2 µg/mL). Ca levels were found low in 11 patients (12.2%), and P levels were found high in 2 (2.22%) and low in 4 (4.44%) patients while high ALP levels were found in 6 (6.67%) patients. 25-OHD levels were low in all patients with a mean value of 24.95±5.82. Conclusion: Reports in the literature indicate that parathyroid dysfunction due to iron overload generally occurs in 2nd or 3rd decade of patients with thalassemia major. However, our study shows that PTH due to iron overload may develop in a significant number of thalassemia major patients, therefore, all thalassemics should be carefully watched for endocrine organ function such as hyperparathyroidism might occur even in the first decade of the patients with thalassemia major.

Background: Vitamin D deficiency in pregnancy increases several risks of breastfed mothers. To prevent these adverse events, vitamin D supplementation during pregnancy and lactation is recommended, but suggested dose ranges vary. Objective: To determine whether vitamin D3 1,800 IU/d supplementation in lactating mothers improves the vitamin D status of their breastfed infants. Materials and Methods: A randomized, placebo–controlled trial with Thai pregnant women was conducted. Lactating mothers (n=72) and their breastfed infants with insufficient maternal 25 hydroxyvitamin D (25(OH)D) levels in the third trimester were randomly assigned to two groups, one of which received 1,800 IU/d vitamin D supplementation and the other a placebo. Maternal serum 25(OH)D during lactation, cord blood, and 6-week breastfed infant serum were measured using LC-MS/MS. Results: Mean maternal age (±SD) was 27±5 years, and pre-gestational BMI was 22.29±5 kg/m2. Maternal serum 25(OH)D at baseline was 22.29±7.15 nmol/L. At 6 weeks, both maternal 25(OH)D and infant 25 (OH)D levels had increased significantly in the vitamin D supplement group of mothers and infants (68.30±15.40, 40.40±12.56 nmol/L) compared to those in placebo groups (55.15±13.57, 24.28±17.20 nmol/L) (p <0.001, p<0.001). The changes in infant 25(OH)D levels increased substantially in the vitamin D supplement group but decreased in placebo(17.49±16.27 ng/ml compared to -1.34±19.23 nmol/L in the placebo group, p<0.001). The change of maternal 25(OH)D were positively correlation to the change of 25(OH)D level in breastmilk mothers and infants by r=0.697, p<0.001 and r=0.379, p=0.003 respectively. Conclusions: Vitamin D3 supplementation to breastfed mother during lactation can increase serum 25(OH)D level in Thai breastfed mother and infants. Further work is needed to determine the optimum duration of vitamin D supplementation to normalized breastfed infants with 25(OH)D level >75 nmol/L.

Introduction: Lipoprotein (a) [Lp(a)] is a marker for cardiovascular disease, involved in pathogenesis and progression of atherosclerosis. In selected high-risk patients, lipoprotein-apheresis could optimize secondary prevention and improve prognosis. Aim: We presented the case of a 49-year-old man with high lipoprotein (a) levels and recurrent cardiac adverse events, despite maximal pharmacological therapy. Case report: Four years before the admission at our Centre, he presented an anterior STEMI, treated with angioplasty and implantation of a drug eluting stent on left anterior descending artery, at the age of 47 years, in September 2012; one month later, the patients presented a new episode of angina, and exams showed a critical stenosis in the right coronary artery, treated by angioplasty and implantation of drug eluting stent. Because of high Lp(a) plasma levels, patient was subsequently on regularly 7-10 day lipoprotein apheresis. Results and discussion: A thrombophilic screening was performed, showing the simultaneous presence of heterozygous V Leiden mutation and prothrombin G20210A mutation. He referred to our Centre in order to optimize therapy; we performed an endothelial function assessment showing a severe dysfunctional pattern. Because of these findings, we prescribed dual antiplatelet therapy, and we added omega-3 fatty acids and association with nicotinic acid/laropiprant. According with current guidelines, considering the high risk of bleeding, we preferred not to administer anticoagulant therapy. At 6-month and 1-year follow up the patient continued lipoprotein apheresis and was asymptomatic for other cardiovascular events. Conclusions: The assessment for the eventual presence of thrombophilia might become a useful tool in clinical practice for high-risk selected patients.