scholarly journals Surveillance of transient congenital hypothyroidism using the French newborn screening programme

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
Y Barry ◽  
L Mandereau-Bruno ◽  
C Bonaldi ◽  
I Guseva-Canu ◽  
D Delmas ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Programme ◽  
Screening Program ◽  
Cox Model ◽  
Multivariable Analysis ◽  
Hormone Deficiency ◽  
Newborn Screening Programme ◽  
History Of ◽  
Transient Congenital Hypothyroidism

Abstract Introduction Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth. Untreated CH results in severe mental impairment. An increased incidence of CH has been reported in France and worldwide that could be explained by an increase in transient forms of CH (TCH). We aimed to estimate the proportion of transient eutopic gland based on the characteristics of children at birth. Methods A probabilistic matching data from French CH neonatal screening program and French national health data system (SNDS) of children born between 2006 and 2012 (1, 763 with CH) allowed to linking 484 (68.8%) among 703 children with eutopic gland. Infants with six months or greater discontinuation of levothyroxine (LT4) treatment before the 31th December 2017 were classified transient CH. We used the Cox model to examine the predictors of TCH. Results Among infants with eutopic gland, 52.9% were female, 14.9% were preterm and 14, 1 % had low birth weight, 11.8 % had a first degree family history of thyroid diseases, 48.1% of mild CH (TSH<50mU/L) at diagnosis and 30,0μg/j median dose of LT4 treatment. The probability of transient CH at five years of follow-up was 25.3% [IC95%:21.6% -29.4%] and 36.7% [31.7% -42.2%] after ten years. In a cox multivariable analysis, neonates with a TSH<50mU/L (adjusted Hazard Ratio=4.1 [2.8-6.2]) and preterm 1.9 [1.1-3.4] had more risk to be transient. Conclusions Prematurity and TSH level were predictors of transient CH. Additional analyses are ongoing to determine whether the occurrence of transient forms of TCH is increasing over the study period. Key messages Transient congenital hypothyroidism represent a significant part of HC at 10 years of follow-up. This finding has important implication on medical practices and should trigger research on the etiology of these transient forms.

scholarly journals Thyroid Gene Mutations in Pregnant and Breastfeeding Women Diagnosed With Transient Congenital Hypothyroidism: Implications for the Offspring’s Health

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormones ◽  
Congenital Hypothyroidism ◽  
Gene Mutations ◽  
Genetic Variations ◽  
Hormone Deficiency ◽  
Iodide Transport ◽  
Transport Defect ◽  
Pregnancy And Lactation ◽  
Transient Congenital Hypothyroidism

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.

Abstract 13030: Causes of Cardiovascular and Non-cardiovascular Mortality in the Ischemia Trial

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Mandeep S Sidhu ◽  
Karen P Alexander ◽  
Zhen Huang ◽  
Sean M O’Brien ◽  
Bernard R Chaitman ◽  
...  
Keyword(s):  
Management Strategies ◽  
Multivariable Analysis ◽  
International Study ◽  
Factors Associated ◽  
Clinical Events ◽  
All Cause Mortality ◽  
History Of ◽  
Multivariable Analyses ◽  
Clinical Events Committee

Background: In the ISCHEMIA (International Study of Comparative Health Effectiveness with Medical and Invasive Approaches) trial, all-cause mortality was similar in patients with stable ischemic heart disease (SIHD) randomized to invasive (INV) and conservative (CON) management strategies. This analysis details specific causes of cardiovascular (CV) and non-CV mortality by treatment group. Methods: In ISCHEMIA, 289 deaths occurred after a median follow-up of 3.2 years; 145 (5.6%) in INV and 144 (5.6%) in CON (HR 1.05, CI 0.83-1.32). Deaths were adjudicated by an independent Clinical Events Committee as CV, non-CV with or without a CV contributor or undetermined. The protocol defined CV death as deaths from CV causes, non-CV causes with CV contributor, and cause undetermined; non-CV death was defined as death from non-CV causes without a CV contributor. Multivariable analyses were used to identify factors associated with cause-specific death. Results: CV death was similar between groups [INV 92 (3.6%), CON 111 (4.3%); HR 0.87 (CI 0.66, 1.15)], but INV had more non-CV death [INV 53 (2.0%), CON 33 (1.3%); HR 1.63 (CI 1.06, 2.52)]; fewer undetermined deaths [INV 12 (0.5%) and CON 26 (1.0%); HR 0.48 (0.24, 0.95)] and more malignancy deaths [INV 41 (1.6%), CON 20 (0.8%); HR 2.11 (1.24, 3.61)]. In multivariable analysis, risk factors associated with CV death were age [HR 1.42 (CI 1.19-1.70) per 10-year increase], diabetes [HR 1.39 (CI 1.03-1.87)], history of heart failure [HR 1.96 (CI 1.33-2.91)], and eGFR [HR 1.18 (CI 1.11-1.26) per 5-ml/min decrease below 80ml/min]. Factors associated with non-CV death were age [HR 2.31 (CI 1.75-3.03) per 10-year increase] and randomization to INV [HR 1.76 (CI 1.13-2.75)]. Conclusions: In ISCHEMIA, all-cause mortality was similar for the INV and CON strategies. Excess non-CV deaths in INV with a higher number of deaths from malignancy but a higher number of undetermined deaths in CON requires further evaluation.

4070Clinical impact of mitral regurgitation before or following transcatheter aortic valve replacement in patients with aortic stenosis: a nationwide multivariable analysis

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
L Fauchier ◽  
A Bernard ◽  
A Bisson ◽  
T Lacour ◽  
J Herbert ◽  
...  
Keyword(s):  
Transcatheter Aortic Valve Replacement ◽  
Independent Predictor ◽  
Multivariable Analysis ◽  
Total Mortality ◽  
Transcatheter Aortic Valve ◽  
Mortality Hazard ◽  
History Of ◽  
The Impact ◽  
Mortality Hazard Ratio

Abstract Patients undergoing transcatheter aortic valve replacement (TAVR) may have concomitant mitral regurgitation (MR). The impact of MR at baseline or after TAVR on subsequent prognosis remains to be more precisely determined. We analysed the impact of MR before or after TAVR on prognosis in the systematic analysis of patients treated with TAVR at a nationwide level. Methods Based on the French administrative hospital-discharge database, the study collected information for all consecutive patients with aortic stenosis treated with transfemoral TAVR in France between 2008 and 2018. Cox regression was used for the analysis of predictors of events during follow-up. Results A total of 47,872 patients with transfemoral TAVR were included in the analysis (mean age 83±7 years). Moderate/severe MR was present at baseline (MRb) in 9.5% of the patients. Few patients (1.6%) revealed moderate/severe MR post-TAVR (MRpt). Mean follow-up was 1.31±1.61 years. MRb was associated with an increased cardiovascular mortality (Hazard ratio 1.29, 95% CI 1.20–1.39) and total mortality (Hazard ratio 1.15, 95% CI 1.10–1.21). However, MRb was not an independent predictor in multivariable analysis, neither for cardiovascular mortality (adjusted HR 1.06, 95% CI 0.98–1.14) nor for total mortality (adjusted HR 1.01, 95% CI 0.96–1.07). MRpt was not a predictor of cardiovascular or total mortality. Older age, male sex, history of pulmonary edema/cardiogenic shock, atrial fibrillation, myocardial infarction, diabetes, renal failure, liver disease, pulmonary disease, previous cancer and anemia at baseline independently predicted mortality during follow-up. All of them (but history of cancer) were also independent predictor of cardiovascular death. Conclusion Baseline MR was associated with increased cardiovascular and totality mortality following TAVR but was not an independent predictor of any of them. By contrast, several other predictors of cardiovascular and total mortality were identified. This suggests that MR should not be directly considered to establish the strategy for TAVR decision or for avoiding TAVR-related futility.

scholarly journals Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme

2016 ◽  
Vol 12 (2) ◽  
pp. 99
Author(s):  
Jubbin Jagan Jacob ◽  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Resource Constraints ◽  
Screening Programme ◽  
Standard Of Care ◽  
Neurological Impairment ◽  
Current Understanding ◽  
Hormone Deficiency ◽  
Levothyroxine Replacement ◽  
Long Term Follow Up

Neonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most developed societies. In India there is no national programme for neonatal screening, and screening is only done in selected larger hospitals on newborns whose parents fund it. This review summarises the current understanding of the various strategies for newborn screening that could potentially be employed in India with resource constraints. Once a case is detected, the further evaluation and determination of etiology is summarised. Treatment and long term follow-up with levothyroxine replacement is also described in detail as per current understanding.

scholarly journals Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats

2017 ◽  
Vol 43 (6) ◽  
pp. 2338-2352 ◽  
Author(s):  
Hanieh Gholami ◽  
Sajad Jeddi ◽  
Azita Zadeh-Vakili ◽  
Khadije Farrokhfall ◽  
Fatemeh Rouhollah ◽  
...  
Keyword(s):  
Carbohydrate Metabolism ◽  
Congenital Hypothyroidism ◽  
Glucose Transporter ◽  
Glucose Transporters ◽  
Glucose Sensing ◽  
Hormone Deficiency ◽  
Gene Expressions ◽  
Glut4 Expression ◽  
Increased Risk ◽  
Transient Congenital Hypothyroidism

Background/Aims: Transient congenital hypothyroidism (TCH) could disturb carbohydrate metabolism in adulthood. Aging is associated with increased risk of type 2 diabetes. This study aims to address effects of TCH on mRNA expressions of glucose transporters (GLUTs) and glucokinase (GcK) in islets and insulin target tissues of aged offspring rats. Methods: The TCH group received water containing 0.025% 6-propyl-2-thiouracil during gestation. Offspring from control and TCH groups (n=6 in each group) were followed until month 19. Gene expressions of GLUTs and GcK were measured at months 3 and 19. Results: Compared to controls, aged TCH rats had higher GLUT4 expression in heart (4.88 fold) and soleus (6.91 fold), while expression was lower in epididymal fat (12%). In TCH rats, GLUT2 and GcK expressions in islets were lower in young (12% and 10%, respectively) and higher in aged (10.85 and 8.42 fold, respectively) rats. In addition, liver GLUT2 and GcK expressions were higher in young (13.11 and 21.15 fold, respectively) and lower in aged rats (44% and 5%, respectively). Conclusion: Thyroid hormone deficiency during fetal period impaired glucose sensing apparatus and changed glucose transporter expression in insulin-sensitive tissues of aged offspring rats. These changes may contribute to impaired carbohydrate metabolism.

scholarly journals Treatment and follow-up of children with transient congenital hypothyroidism

2005 ◽  
Vol 6 (12) ◽  
pp. 1206-1209 ◽  
Author(s):  
Ru-lai Yang ◽  
Zhi-wei Zhu ◽  
Xue-lian Zhou ◽  
Zheng-yan Zhao
Keyword(s):  
Congenital Hypothyroidism ◽  
Transient Congenital Hypothyroidism

Next generation sequencing as a follow-up test in an expanded newborn screening programme

2018 ◽  
Vol 52 ◽  
pp. 48-55 ◽  
Author(s):  
Andraz Smon ◽  
Barbka Repic Lampret ◽  
Urh Groselj ◽  
Mojca Zerjav Tansek ◽  
Jernej Kovac ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Newborn Screening ◽  
Screening Programme ◽  
Next Generation ◽  
Newborn Screening Programme ◽  
Expanded Newborn Screening ◽  
Generation Sequencing

scholarly journals Establishment and Development of a National Newborn Screening Programme for Congenital Hypothyroidism in Turkey

2013 ◽  
Vol 5 (2) ◽  
pp. 73-79 ◽  
Author(s):  
Dilli Dilek ◽  
Özbaş Sema ◽  
Acıcan Deniz ◽  
Yamak Nergiz ◽  
Ertek Mustafa ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Programme ◽  
Newborn Screening Programme

scholarly journals Does routine ultrasound change management in the follow-up of patients with vesicoureteral reflux?

2013 ◽  
Vol 7 (7-8) ◽  
pp. 467 ◽  
Author(s):  
Jan K. Rudzinski ◽  
Bryce Weber ◽  
Petra Wildgoose ◽  
Armando Lorenzo ◽  
Darius Bagli ◽  
...  
Keyword(s):  
Vesicoureteral Reflux ◽  
Demographic Data ◽  
Multivariable Analysis ◽  
Renal Ultrasound ◽  
Dysfunctional Voiding ◽  
Voiding Symptoms ◽  
Previous Diagnosis ◽  
History Of ◽  
The Impact

Introduction: Children with vesicoureteral reflux (VUR) usually need a renal ultrasound (RUS). There is little data on the role of follow-up RUS in VUR. We evaluated the impact of follow-up RUS on the change in clinical management in patients with VUR.Methods: We prospectively analyzed children with a previous diagnosis of VUR seen in the outpatient clinic with a routine follow-up RUS within 4 months. Variables collected included: demographic data, VUR history, dysfunctional voiding symptoms and concurrent ultrasound findings. Change in management was defined as addition of new medication, nurse counselling, surgery or further investigations.Results: The study included 114 consecutive patients. The mean patient age was 4.5 years old, mean age of VUR diagnosis was 1.7 years, with average follow-up of 2.8 years. A change in management with stable RUS occurred in 14 patients, in which the change included ordering a DMSA in 9, nurse counselling for dysfunctional voiding in 3, and booking surgery in 2 patients. Change on RUS was seen in 4 patients. Multivariable analysis showed that history of urinary tract infection (UTI) since the last follow-up visit was more significant than RUS findings.Conclusions: The RUS findings in most patients followed for VUR remain stable or with minimal changes. The variable showing a significant effect on change in management in our study was history of UTI since the last follow-up visit rather than RUS findings. The value of follow-up RUS for children with VUR may need to be revisited.

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