A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8

2019 ◽  
Vol 32 (3) ◽  
pp. 301-304 ◽  
Author(s):  
Louise Apperley ◽  
Dinesh Giri ◽  
Jayne A.L. Houghton ◽  
Sarah E. Flanagan ◽  
Mohammed Didi ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Standard Deviation Score ◽  
Male Infant ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Hepatocyte Nuclear Factor 4 ◽  
Long Term Prognosis ◽  
Improved Glycaemic Control

Abstract Background Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic β-cells resulting in hypoglycaemia. Causative mutations in multiple genes have been reported. Phenotypic variability exists both within and between different genetic subgroups. Case presentation A male infant born at 35+6 weeks’ gestation with a birth weight of 4.3 kg [+3.6 standard deviation score (SDS)] had recurrent hypoglycaemic episodes from birth. Biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and the dose was progressively increased to maintain euglycaemia. His father was slim and had been diagnosed with type 2 diabetes in his 30s. Sequence analysis identified a heterozygous hepatocyte nuclear factor 4 alpha (HNF4A) mutation (p.Arg245Pro, c.734G>C) and compound heterozygous ABCC8 mutations (p.Gly92Ser, c.274G>A and p.Ala1185Val, c.3554C>T) in the patient. The p.Ala1185Val ABCC8 mutation was inherited from his unaffected mother and the p.Arg245Pro HNF4A and p.Gly92Ser ABCC8 mutations from his father. All three mutations were predicted to be pathogenic. Identification of the HNF4A mutation in the father established a diagnosis of maturity-onset diabetes of the young (MODY), which enabled medication change resulting in improved glycaemic control. Conclusions We report a rare patient with CHI due to dual genetic aetiology. Although he is currently responsive to the maximum dose of diazoxide, the long-term prognosis remains unclear.

Long-term prognosis of Salter–Harris type 2 injuries of the distal femoral physis

2006 ◽  
Vol 15 (6) ◽  
pp. 433-438 ◽  
Author(s):  
Brice Ilharreborde ◽  
Claire Raquillet ◽  
Etienne Morel ◽  
Franck Fitoussi ◽  
Henri Bensahel ◽  
...  
Keyword(s):  
Long Term Prognosis ◽  
Salter Harris ◽  
Femoral Physis

scholarly journals The impact of glucose lowering treatment on long-term prognosis in patients with type 2 diabetes and myocardial infarction: a report from the DIGAMI 2 trial

2007 ◽  
Vol 29 (2) ◽  
pp. 166-176 ◽  
Author(s):  
L. G. Mellbin ◽  
K. Malmberg ◽  
A. Norhammar ◽  
H. Wedel ◽  
L. Ryden ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Type 2 Diabetes ◽  
Glucose Lowering ◽  
Long Term Prognosis ◽  
The Impact

Intensive Integrated Therapy of Type 2 Diabetes: Implications for Long-Term Prognosis

Diabetes ◽  
2004 ◽  
Vol 53 (Supplement 3) ◽  
pp. S39-S47 ◽  
Author(s):  
P. Gaede ◽  
O. Pedersen
Keyword(s):  
Type 2 Diabetes ◽  
Integrated Therapy ◽  
Long Term Prognosis

CO24 AUTOIMMUNE HEPATITIS TYPE 2 (AIH2): LONG-TERM PROGNOSIS FROM CHILDHOOD TO ADULTHOOD

2012 ◽  
Vol 44 ◽  
pp. S251-S252
Author(s):  
S. Nastasio ◽  
M. Sciveres ◽  
S. Ghione ◽  
F. Cirillo ◽  
S. Riva ◽  
...  
Keyword(s):  
Autoimmune Hepatitis ◽  
Long Term Prognosis

Basal insulin therapy in patients with type 2 diabetes mellitus: aspects of early initiation, advantages, constraints, and prospects

2011 ◽  
Vol 57 (3) ◽  
pp. 53-59
Author(s):  
O K Vikulova
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Insulin Therapy ◽  
Intensive Therapy ◽  
Cardiovascular Complications ◽  
Optimal Regime ◽  
Long Term Prognosis

Intensive control of glycemia starting from the onset of type 2 diabetes mellitus (DM2) is of primary importance for the long-term prognosis of the disease and the reduction of risk of cardiovascular complications. The strategy of early intensive therapy of DM2 thus far remains a matter of fierce dispute among diabetologists. The problem of choice of an optimal regime for the start of insulin therapy does not have an unambiguous solution either. Hypoglycemia is the main factor that traditionally hampers wide application of insulin therapy in patients with type 2 diabetes mellitus. The choice in favour of basal therapy with insulin analogs has the advantage of reaching the target parameters of carbohydrate metabolism at a significantly lower risk of hypoglycemia compared with other strategies of insulin therapy.

scholarly journals Estimation of metformin and other sugar reducing therapy influence on the outcomes in patients with acute coronary syndrome and diabetes mellitus type II

2021 ◽  
Vol 10 (4) ◽  
pp. 39-47
Author(s):  
K. Yu. Nikolaev ◽  
K. I. Bondareva ◽  
A. Ya. Kovaleva ◽  
G. I. Lifshits
Keyword(s):  
Myocardial Infarction ◽  
Acute Coronary Syndrome ◽  
Cardiovascular Events ◽  
Diabetes Type 2 ◽  
Diabetes Type ◽  
Coronary Syndrome ◽  
Estimated Risk ◽  
Long Term Prognosis

Aim. To study the influence of hypoglycemic therapy on hospital and long-term prognosis in patients with acute coronary syndrome (ACS) and diabetes type 2.Methods. The study included 63 patients with ACS and type 2 diabetes. All patients had a clinical examination, assessment of mortality risk and myocardial infarction on GRACE scale (Global Registry of Acute Coronary Events) and TIMI (Thrombolisis In Myocardial Infarction) in-hospital and six months after hospitalization.Results. Metformin is associated with a lower estimated risk of in-hospital mortality and within 6 months after discharge in patients with acute coronary syndrome on the background of type 2 diabetes and with less risk of adverse cardiovascular events within 14 days of their occurrence in patients with unstable angina pectoris on the background of diabetes. High daily doses of metformin have also been associated with a decrease in the estimated risk of in-hospital mortality and within 6 months after discharge in patients with ACS associated with diabetes. The inverse association between the daily dosage of metformin and the presence of angina pectoris in patients with ACS and diabetes type 2 indicates a protective effect of metformin high daily dosages in relation to the risk of complications within six months after the discharge from hospital.Conclusion. One of the important aspects of ACS treatment, along with effective therapy, is the impact on concomitant risk factors, including blood glucose control. The main groups of hypoglycemic drugs have currently been identified; their effect on cardiovascular events, long-term effects and long-term prognosis are being investigated.

scholarly journals Improved glycaemic control and reduced incidence of myocardial infarctions, strokes, and mortality in men with hypogonadism and type 2 diabetes, with and without long-term testosterone therapy

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
F Saad ◽  
A Haider ◽  
K S Haider ◽  
G Doros ◽  
A Traish
Keyword(s):  
Blood Pressure ◽  
Type 2 Diabetes ◽  
Glycaemic Control ◽  
Fasting Glucose ◽  
Testosterone Therapy ◽  
Testosterone Undecanoate ◽  
Long Term Treatment ◽  
Improved Glycaemic Control

Abstract Introduction Guidelines by the ESC and EASD state that patients with diabetes have a two-fold excess risk of vascular outcomes. An increasing number of studies suggests that testosterone therapy (TTh) has cardiometabolic benefits in men with hypogonadism and type 2 diabetes (T2DM). Methods In a registry of men with hypogonadism in a urological office, 361 men had T2DM and received standard diabetes treatment including lifestyle recommendations and coaching in a diabetes center. 183 men received TTh with testosterone undecanoate injections 1000 mg/12 weeks following an initial 6-week interval (T-group). 178 men opted against TTh and served as controls (CTRL). Changes over time between groups were compared and adjusted for age, weight, waist circumference, fasting glucose, blood pressure, lipids and quality of life to account for baseline differences between the two groups. 12-year analyses of 3149 patient-years are reported. Results Mean (median) follow-up 8.2±3.2 (8) years in the T-group, 9.2±2.8 (10) years in CTRL, baseline age: 60.6±5.4 (T-group) and 63.5±5.0 (CTRL) years (p<0.0001). All but 7 patients were overweight or obese. 70 patients (38.3%) in the T-group and 70 (39.3%) in CTRL had a history of cardiovascular disease (myocardial infarction MI, stroke, or coronary artery disease diagnosis) (p=0.8341). Baseline smoking prevalence was 41.0% (75 men) in the T-group and 38.2% (68 men) in CTRL (p=0.5161). The T-group had significantly worse baseline risk factor profile than CTRL: BMI (36.5±4.5 vs. 33.4±5.3 kg/m2), systolic blood pressure (163.0±13.5 vs. 145.6±14.6 mmHg), LDL (4.7±0.9 vs. 4.1±1.4 mmol/L), HbA1c 9.4±1.4 vs. 7.8±0.7% (p<0.0001 for all). HbA1c progressively decreased by 3.7±0.2% at 12 years in the T-group and increased in CTRL by 3.2±0.2%, estimated adjusted difference between groups: −6.9% [95% CI: −7.4; −6.4] (p<0.0001 for all). Fasting glucose decreased in the T-group by 1.9±0.1 and increased in CTRL by 1.8±0.1 mmol/L, estimated adjusted difference: −3.6 mmol/L [95% CI: −4.0; −3.3] (p<0.0001 for all). Men in the T-group lost 19.7±0.4% weight, men in CTRL gained 9.1±0.4%, estimated adjusted difference: −28.8% [95% CI: −30.2; −27.4] (p<0.0001 for all). During the observation period, 15 patients (8.2%) died in the T-group vs. 61 (34.3%) in CTRL (p<0.0001). In the T-group, there were no cases of MI or stroke. In CTRL, there were 56 cases of MI (31.5%) and 56 cases of stroke (31.5%). 35 patients (19.7%) suffered a MI and a stroke. Medication adherence to testosterone was 100% as all injections were administered in the medical office and documented. Conclusions Long-term treatment with TU in men with hypogonadism and T2DM significantly reduces mortality, compared to untreated controls. Improved glycaemic control and weight loss may have contributed to these outcomes. FUNDunding Acknowledgement Type of funding sources: Private company. Main funding source(s): Bayer AG, Berlin, Germany

scholarly journals Clinical Influence of Sodium-Glucose Cotransporter 2 (SGLT2) Inhibitors for Cardiovascular and Renal Points of View

2020 ◽  
Vol 2 (S1) ◽  
pp. 9-13 ◽  
Author(s):  
Bando H
Keyword(s):  
Sglt2 Inhibitors ◽  
Outcome Study ◽  
Sodium Glucose Cotransporter ◽  
Cardiovascular Assessment ◽  
Points Of View ◽  
Long Term Prognosis ◽  
Excess Glucose ◽  
Outcome Event

Diabetes has been a major medical and health problem worldwide. Adequate glycemic control has shown a clinically beneficial effect for long-term prognosis, with recent anti-diabetic agents. There are some mega studies concerning Sodium-glucose cotransporter 2 (SGLT2) inhibitors. They are i) Canagliflozin cardioVascular Assessment Study (CANVAS), ii) Canagliflozin and Renal Events in Diabetes with Established Nephropathy Clinical Evaluation (CREDENCE), iii) Dapagliflozin Effect on CardiovascuLAR Events (DECLARE) -TIMI 58, iv) Empagliflozin Cardiovascular Outcome Event Trial in Type 2 Diabetes Mellitus Patients-Removing Excess Glucose (EMPA-REG OUTCOME) study. Current topics of SGLT2 inhibitors for cardiovascular and renal points of view were described.

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