scholarly journals Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations

2020 ◽  
Vol 105 (12) ◽  
pp. e4351-e4359
Author(s):  
Huseyin Demirbilek ◽  
Atilla Cayir ◽  
Sarah E Flanagan ◽  
Ruken Yıldırım ◽  
Yılmaz Kor ◽  
...  
Keyword(s):  
Ferritin Level ◽  
Pancreatic Insufficiency ◽  
Postnatal Growth ◽  
Exocrine Pancreatic Insufficiency ◽  
Loss Of Function ◽  
Distal Enhancer ◽  
Patients With Diabetes ◽  
Long Term Follow Up

Abstract Context Biallelic mutations in the PTF1A enhancer are the commonest cause of isolated pancreatic agenesis. These patients do not have severe neurological features associated with loss-of-function PTF1A mutations. Their clinical phenotype and disease progression have not been well characterized. Objective To evaluate phenotype and genotype characteristics and long-term follow-up of patients with PTF1A enhancer mutations. Setting Twelve tertiary pediatric endocrine referral centers. Patients Thirty patients with diabetes caused by PTF1A enhancer mutations. Median follow-up duration was 4 years. Main Outcome Measures Presenting and follow-up clinical (birthweight, gestational age, symptoms, auxology) and biochemical (pancreatic endocrine and exocrine functions, liver function, glycated hemoglobin) characteristics, pancreas imaging, and genetic analysis. Results Five different homozygous mutations affecting conserved nucleotides in the PTF1A distal enhancer were identified. The commonest was the Chr10:g.23508437A>G mutation (n = 18). Two patients were homozygous for the novel Chr10:g.23508336A>G mutation. Birthweight was often low (median SDS = –3.4). The majority of patients presented with diabetes soon after birth (median age of diagnosis: 5 days). Only 2/30 presented after 6 months of age. All patients had exocrine pancreatic insufficiency. Five had developmental delay (4 mild) on long-term follow-up. Previously undescribed common features in our cohort were transiently elevated ferritin level (n = 12/12 tested), anemia (19/25), and cholestasis (14/24). Postnatal growth was impaired (median height SDS: –2.35, median BMI SDS: –0.52 SDS) with 20/29 (69%) cases having growth retardation. Conclusion We report the largest series of patients with diabetes caused by PTF1A enhancer mutations. Our results expand the disease phenotype, identifying recurrent extrapancreatic features which likely reflect long-term intestinal malabsorption.

scholarly journals Endocrine and exocrine pancreatic insufficiency after acute pancreatitis: long-term follow-up study

2018 ◽  
Vol 41 (3) ◽  
pp. 20-30
Author(s):  
J. Tu ◽  
J. Zhang ◽  
L. Ke ◽  
Y. Yang ◽  
Q. Yang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Insulin Resistance ◽  
Acute Pancreatitis ◽  
Blood Glucose ◽  
Pancreatic Necrosis ◽  
Pancreatic Insufficiency ◽  
Exocrine Pancreatic Insufficiency ◽  
Long Term Follow Up

Introduction. Patients could develop endocrine and exocrine pancreatic insufficiency after acute pancreatitis (AP), but the morbidity, risk factors and outcome remain unclear. The aim of the present study was to evaluate the incidence of endocrine and exocrine pancreatic insufficiency after AP and the risk factors of endocrine pancreatic insufficiency through a long-term follow-up investigation. Methods. Follow-up assessment of the endocrine and exocrine function was conducted for the discharged patients with AP episodes. Oral Glucose Tolerance Test (OGTT) and faecal elastase-1(FE-1) test were used as primary parameters. Fasting blood-glucose (FBG), fasting insulin (FINS), glycosylated hemoglobin HBA1c, 2-h postprandial blood glucose (2hPG), Homa beta cell function index (HOMA-β), homeostasis model assessment of insulin resistance (HOMA-IR) and FE-1 were collected. Abdominal contrast-enhanced computed tomography (CECT) was performed to investigate the pancreatic morphology and the other related data during hospitalization was also collected. Results. One hundred thirteen patients were included in this study and 34 of whom (30.1%) developed diabetes mellitus (DM), 33 (29.2%) suffered impaired glucose tolerance (IGT). Moreover, 33 patients (29.2%) developed mild to moderate exocrine pancreatic insufficiency with 100μg/g<FE-1<200μg/g and 7 patients (6.2%) were diagnosed with severe exocrine pancreatic insufficiency with FE-1<100μg/g. The morbidity of DM and IGT in patients with pancreatic necrosis was significant higher than that in the non-pancreatic necrosis group (χ2 = 13.442,P = 0.001). The multiple logistic regression analysis showed that extent of pancreatic necrosis<30% (P = 0.012, OR = 0.061) were the protective factors of endocrine pancreatic insufficiency. HOMA-IR (P = 0.002, OR = 6.626), Wall-off necrosis (WON) (P = 0.013, OR = 184.772) were the risk factors. Conclusion. The integrated morbidity of DM and IGT after AP was 59.25%, which was higher than exocrine pancreatic insufficiency. 6.2% and 29.2% of patients developed severe and mild to moderate exocrine pancreatic insufficiency, respectively. The extent of pancreatic necrosis>50%, WON and insulin resistance were the independent risk factors of new onset diabetes after AP.

scholarly journals Long Term Follow Up of Hemangioma on Bilateral Cleft Lip

1970 ◽  
Vol 2 (3) ◽  
Author(s):  
Parintosa Atmodiwirjo ◽  
Puri Ambar Lestari ◽  
Ayu Diah Kesuma
Keyword(s):  
Cleft Lip ◽  
Asian Population ◽  
Postnatal Growth ◽  
Massive Bleeding ◽  
Left Behind ◽  
Good Shape ◽  
Bilateral Cleft Lip ◽  
Long Term Follow Up

Background: Hemangioma is a common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. Cleft lip is a common anomaly found in Indonesia. These entities are twice in common in the Asian population. However, simultaneous occurance of these two abnormalities is rare to be found. Patient and Method: A case of bilateral cleft lip complicated with hemangioma on the left side of lip and the surrounding skin through the mucosa, and the prolabium, which had been performed cheiloplasty procedure at age 9 months old. Cheiloplasty design was made through the hemangioma area with a careful hemostasis to avoid massive bleeding. Result: Hemangioma was partially left behind at the cheiloplasty procedure. There was no bleeding during and after the surgery. Two years following the surgery, there was a fine scar with good shape of the lip and no further growth of the hemangioma. Summary: Hemangioma and cleft lip are very rare to be found in the same location. Because of the involution potential of hemangioma, timing of surgery is very important. Considering the psychosocial aspect, the surgery was performed at the age of 9 months. Two years after surgery, we didn’t find any growth of hemangioma or deformity of the bone and lip. The scar growth is in good esthetic result, no difference with left lip child without hemangioma.

scholarly journals Long term follow-up of a simplified and less burdened pancreatic duct ligation model of exocrine pancreatic insufficiency in Goettingen Minipigs

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Andreas Minh Luu ◽  
Alexander Brock ◽  
Sabrina Ritz ◽  
Sandra Junghänel ◽  
Ingo Aldag ◽  
...  
Keyword(s):  
Pancreatic Duct ◽  
Pancreatic Insufficiency ◽  
Pancreatic Enzyme ◽  
Exocrine Pancreatic Insufficiency ◽  
Pancreatic Ducts ◽  
Health State ◽  
Pancreatic Duct Ligation ◽  
Duct Ligation

Abstract Background Pancreatic duct ligation in a minipig model leads to exocrine pancreatic insufficiency (EPI). This allows the study of digestive processes and pancreatic enzyme replacement therapies. However, detailed descriptions of the surgical procedure, perioperative management, a determination of exocrine pancreatic insufficiency are scarce in the literature. Data of the long-term health status of minipigs upon EPI induction are still not available. Therefore, the present study describes in detail an experimental approach to the induction of exocrine pancreatic insufficiency via pancreatic duct ligation in minipigs and the long term follow up of the animal’s health state. Methods 14 Goettingen minipigs underwent pancreatic duct ligation via midline laparotomy for the induction of exocrine pancreatic insufficiency. Fecal fat content, fat absorption, chymotrypsin levels, body weight and blood vitamin and glucose levels were determined. Results Exocrine pancreatic insufficiency was successfully induced in 12 Goettingen minipigs. Two minipigs failed to develop exocrine insufficiency most likely due to undetected accessory pancreatic ducts. All animals tolerated the procedure very well and gained weight within 8 weeks after surgery without requiring pancreatic enzyme replacement therapy. The follow up for approx. 180 weeks showed a stable body weight and health state of the animals with normal blood glucose levels (Table 1). From approx. 130 weeks post pancreatic duct ligation, all animals were supplemented with pancreatic enzymes and vitamins resulting in blood concentrations almost within the reference range. Conclusions Pancreatic duct ligation in minipigs is an excellent method of inducing exocrine pancreatic insufficiency. It is important to identify and ligate accessory pancreatic ducts since persistence of accessory ducts will lead to maintenance of exocrine pancreatic function. The EPI model caused no persistent side effects in the animals and has the potential to be used in long-term EPI studies with up to 100 weeks post-OP without supplementation with enzymes and vitamins.

Microparticles during long-term follow-up after acute myocardial infarction

2017 ◽  
Vol 117 (08) ◽  
pp. 1571-1581 ◽  
Author(s):  
Christina Christersson ◽  
Åsa Thulin ◽  
Agneta Siegbahn
Keyword(s):  
Myocardial Infarction ◽  
Acute Myocardial Infarction ◽  
Whole Blood ◽  
Cardiovascular Events ◽  
Time Period ◽  
Increased Risk ◽  
Patients With Diabetes ◽  
Long Term Follow Up

SummaryMicroparticles (MPs) are formed from platelets (PMPs), endothelial cells (EMPs) and monocytes (MMPs), and in acute myocardial infarction (MI), there is an increase of MPs in the culprit artery. In this study MPs were evaluated in whole blood in 105 patients with MI at five time-points during a two-year follow-up (FU). Patients with non-ST-elevated MI had higher concentrations of CD41+MPs compared to ST-elevated MI patients (p=0.024). The concentrations of PMPs in whole blood increased during the time period (p<0.001), but no significant change over time was found for EMPs and MMPs. CD62P+MP counts were higher in MI patients with diabetes (p=0.020), and patients with hypertension had increased levels of CD14+MPs (p=0.004). The amount of CD62P+TF+MPs increased significantly during FU (p<0.001). Patients with atherosclerosis in three arterial beds, i. e. coronary, carotid and peripheral arteries, had lower concentrations of CD62P+TF+MPs (p=0.035) and CD144+TF+MPs (p=0.004) compared to patients with atherosclerosis in one or two arterial beds. Higher concentrations of CD62P+MPs early after MI were associated with an increased risk of cardiovascular events during FU, hazard ratio 3.32 (95%CI1.20–9.31). Only small variations in PMP, EMP and MMP concentrations were found during long-term FU after MI and their levels seem to reflect the underlying cardiovascular disease rather than the acute MI. PMPs expressing P-selectin might be a promising biomarker for predicting future cardiovascular events, but further studies are needed to confirm these results.Supplementary Material to this article is available online at www.thrombosis-online.com.

Long-term Follow-up of Patients with Congenital Hyperinsulinism in Austria

2008 ◽  
Vol 21 (6) ◽  
pp. 523-532
Author(s):  
Birgit Rami ◽  
Saadet Mercimek-Mahmutoglu ◽  
Martha Feucht ◽  
Marion Herle ◽  
Olaf Rittinger ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Pancreatic Insufficiency ◽  
Congenital Hyperinsulinism ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
Prevalence Of Obesity

Abstract Aim: To assess the neurological and clinical long-term outcome of patients diagnosed with congenital hyperinsulinism (CHI) in Austria. Patients and Methods: Fourteen patients diagnosed with CHI (1978-2000) were investigated retrospectively by reviewing hospital records. Thirteen of them were evaluated with either a questionnaire or clinical, neurological and biochemical investigations (age at evaluation 4.2- 25.5 years) in a follow-up study in the year 2004. Results: Fifty percent of the patients needed a pancreatectomy. The prevalence of mental retardation was 31%, of epilepsy 15% and of pancreatic insufficiency 14%. None of our patients had developed diabetes mellitus. Additionally the prevalence of obesity was 43% in patients after pancreatectomy. Sixty-nine percent of the patients had no further treatment at the time of follow-up. Conclusion: Despite early diagnosis and intensive treatment, 31% of the patients presented with mental retardation.

Sign in / Sign up

Export Citation Format

Share Document