scholarly journals Metabolic phenotype in Darier disease: a cross-sectional clinical study

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Tara Ahanian ◽  
Philip Curman ◽  
Ivone U. S. Leong ◽  
Kerstin Brismar ◽  
Etty Bachar-Wikstrom ◽  
...  

Abstract Background Human data supporting a role for endoplasmic reticulum (ER) stress and calcium dyshomeostasis in diabetes is scarce. Darier disease (DD) is a hereditary skin disease caused by mutations in the ATP2A2 gene encoding the sarcoendoplasmic-reticulum ATPase 2 (SERCA2) calcium pump, which causes calcium dyshomeostasis and ER stress. We hypothesize that DD patients have a diabetes-like metabolic phenotype and the objective of this study was to examine the association between DD with impaired glucose tolerance and diabetes. Methods Cross-sectional clinical study on 25 DD patients and 25 matched controls. Metabolic status was assessed primarily by fasting blood glucose, oral glucose tolerance test, HOMA2-%S (insulin resistence) and HOMA2-%B (beta cell function). Results DD subjects showed normal oral glucose tolerance test and HOMA2-%S, while fasting blood glucose was lower and c-peptide as well as HOMA2-%B was higher. Conclusion Increased HOMA2-%B values are indicative of increased basal insulin secretion which is a type of beta cell dysfunction associated to diabetes development. These results supports a role of ER stress in diabetes pathophysiology and contribute to the understanding of DD as a multi-organ syndrome.

2012 ◽  
Vol 19 (04) ◽  
pp. 462-468
Author(s):  
M. IKRAM ◽  
SYED HAIDER HASAN ALAM ◽  
SHAFQAT MUKHTAR ◽  
M. Saeed

Introduction: Gestational diabetes mellitus is common disorder in pregnancy. It is associated with adverse pregnancy outcome. There is no consensus regarding the optimal approach to screening of gestational diabetes mellitus. The present study has tried toobserve the value of fasting blood glucose in screening of gestational diabetes. Objective: To determine the frequency of patients in whomfasting blood glucose and 100gm glucose tolerance show agreement for screening of gestational diabetes mellitus at 24 -28 wks. Studydesign: Comparative cross sectional study. Settings: The study was conducted at Gynecology and Obstetrics department Shaikh ZayedFederal Post Graduate Institute Lahore. Duration of study with dates: 6 months from 12Nov 2010 to 11 May 2011. Material and method: Thestudy included 135 booked patients with positive family history of diabetes mellitus. All patients underwent fasting blood glucose at 24-28 weeksof gestation, regardless of results of fasting blood glucose on next visit they underwent 100g oral glucose tolerance test (OGTT). The agreementbetween fasting blood glucose and 100g oral glucose tolerance test was calculated in frequency and percentages. Results: The mean age ofwomen in studied population was 27.15±3.70.Out of 135 patients 86.7 %( 117) showed agreement between results of fasting blood glucose and100g OGTT while 13.31 %( 18) showed no agreement between both of the tests. Conclusions: Fasting blood glucose is a good screeningoption for gestational diabetes mellitus along with positive history. It provides a simple, cheap and more practical test for screening of gestationaldiabetes mellitus. However diagnostic confirmation with 100g OGTT should be done.


2013 ◽  
Vol 38 (12) ◽  
pp. 1254-1259 ◽  
Author(s):  
Adèle Coriati ◽  
Belinda Elisha ◽  
Sandrine Virassamynaik ◽  
Maude Phaneuf ◽  
Sophie Ziai ◽  
...  

Adult patients with cystic fibrosis (APCF) are at high risk of developing impaired glucose tolerance (IGT) and CF-related diabetes (CFRD) and thus an annual screening with a 2-h oral glucose tolerance test (OGTT) is recommended. This population would greatly benefit from a simplified and harmless alternative to the standard OGTT. Thus, we aimed to compare the diagnostic values of HbA1c and glycemias at interval time points during the 2-h OGTT for IGT and CFRD detection in APCF. To do so, we conducted a cross-sectional analysis of 194 APCF with normal fasting plasma glucose values (≤7.0 mmol·L−1) who underwent a 2-h OGTT. Receivers operating characteristic area under the curves (ROC-AUC) were analyzed to assess the diagnostic value of HbA1c and intermediate OGTT glycemias using 2-h OGTT glycemia as reference. For both IGT and CFRD diagnoses, ROC-AUC values obtained from glycemia at 90 min were significantly higher than HbA1c and remaining intermediate glycemias (p < 0.001). The best 90-min OGTT cut-off values for these diagnoses were >9.3 mmol·L−1 (IGT) and ≥11.5 mmol·L−1 (CFRD). A 90-min OGTT glycemia might be a simplified alternative to 2-h OGTT glycemia for earlier glucose tolerance abnormalities diagnosis in APCF. This finding should be confirmed in other APCF cohorts and its predictive value should be established prospectively.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kimberly M. Herrera ◽  
Jennie P. Ou ◽  
Malini D. Persad ◽  
James Bernasko ◽  
Diana Garretto ◽  
...  

Abstract Objectives To estimate the metformin failure rate in women with gestational diabetes. Methods The study was designed as a retrospective cohort of women diagnosed with gestational diabetes by the 75 g 2 h oral glucose tolerance test. Women were placed into two groups: metformin success (107 patients not requiring insulin therapy) or metformin failure (15 patients requiring the addition of, or, transition to insulin). Primary outcome: rate of metformin failure. Secondary outcomes: maternal and neonatal factors. Results The failure rate of metformin was 15% (19/122 women) in the study. The failure group was more likely to have 3 abnormal values on a 2-h 75 g oral glucose tolerance test (37% (n=7/19) vs. 15% (n=15/103), p=0.02). Patients who failed had higher average fasting blood glucose levels on the glucose tolerance test as well as on pretreatment fasting finger stick values. Those who failed metformin were diagnosed with gestational diabetes and started on metformin earlier in gestation. Conclusions Overall low rate of metformin failure in treatment of gestational diabetes.


Author(s):  
Kavisha Singh ◽  
Aniruddha A. Malgaonkar ◽  
Dinesh R. Samel

Background: Diabetes is an important chronic disease both in terms of prevalence and associated morbidity and early mortality. Mortality rates in diabetics are two- to threefold higher than those without diabetes. Type 2 Diabetes Mellitus is preceded by a period of abnormal glucose homeostasis and hence early diagnosis is important in decreasing this morbidity and mortality. The oral glucose tolerance test (OGTT) is currently the gold standard for the diagnosis of diabetes.Methods: This cross sectional single observer study was conducted amongst all the undergraduate students and interns of a municipal medical college to assess the point prevalence of impaired glucose tolerance and the factors predisposing to the same. After necessary permissions, participants giving written informed consent were interviewed and participants were subjected to an oral glucose tolerance test (OGTT) and their heights, weights were measured.Results: None of the participants had an increased fasting blood glucose but 30 min, 60 min and 90 min post OGTT blood glucose levels were increased in 9 (11.84%) participants and 120 min post OGTT blood glucose was increased in 15 (19.73%) participants. Increase in Body Mass Index (BMI) shows a positive correlation with fasting (r=0.155) and 120 min post OGTT blood glucose (r=0.042). Increase in weekly junk food servings shows a positive correlation with fasting (r=0.014), 90 min (r=0.004) and 120 min post OGTT blood glucose (r=0.009).Conclusions: Impaired glucose tolerance was present in a substantial number of non-diabetic students and had a correlation with BMI, exercise and junk food intake.


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