scholarly journals Positive family history of thyroid disease as a risk factor for differentiated thyroid carcinoma

2011 ◽  
Vol 121 (12) ◽  
pp. 441-447 ◽  
Author(s):  
Elwira Przybylik-Mazurek ◽  
Dorota Pach ◽  
Sylwia Kuźniarz-Rymarz ◽  
Marta Tracz-Bujnowicz ◽  
Krystyna Szafraniec ◽  
...  
1970 ◽  
Vol 9 (1) ◽  
pp. 28-30
Author(s):  
R Shrestha ◽  
D Shrestha ◽  
R Poudyal ◽  
N Mishra

Egg allergies are one of the most common allergies of childhood and the reactions may vary from mild to severe. A family history of egg allergy or atopy is a risk factor for egg allergy. Most food-induced allergic reactions occur on first known oral exposure, especially in the case of eggs and peanuts. We report a case of nine months old infant who developed egg allery (contact dermatitis) after contact with egg white, with a positive family history of atopy and egg allergy. Keywords Egg allergy; contact dermatitis; infancy. DOI: http://dx.doi.org/10.3126/njdvl.v9i1.5766 NJDVL 2010; 9(1): 28-30


Cancer ◽  
2011 ◽  
Vol 118 (5) ◽  
pp. 1228-1235 ◽  
Author(s):  
Li Xu ◽  
Guojun Li ◽  
Qingyi Wei ◽  
Adel K. El-Naggar ◽  
Erich M. Sturgis

2016 ◽  
Vol 70 (2) ◽  
Author(s):  
Kianoosh Hoseini ◽  
Saeed Sadeghian ◽  
Mehran Mahmoudian ◽  
Reza Hamidian ◽  
Ali Abbasi

Background and aims: There is controversy about the role of positive family history as an independent risk factor for coronary artery disease. The aim of this work was to investigate the influence of family history on presentation of coronary artery disease in adult offspring, and on its severity. Methods: In a retrospective cross-sectional study at Tehran Heart Center (University of Tehran Medical Sciences), 6399 patients with established coronary artery disease who underwent coronary angiography for standard indications were assessed. Coronary artery disease was defined as atherosclerotic involvement of more than 50% in at least one major coronary artery. Results: 953 patients (14.9%) had a verified positive family history of coronary artery disease, of whom 193 patients (20.2%) and 215 patients (22.5%) had paternal and maternal positive history, respectively. The mean age of clinical onset of ischemic heart disease in patients with a positive history was significantly lower than patients with no history (p < 0.001). Left main coronary lesion was significantly more frequent in patients with positive history (p = 0.017). Multivariate logistic regression analysis demonstrated that presentation of coronary artery disease in the form of acute coronary syndrome was significantly more prevalent in the background of positive family history (odds ratio, OR = 1.44, 95% confidence interval, CI: 1.14-1.83, p = 0.002), especially above 45 years old. Conclusion: These findings indicate that positive family history is a major risk factor for coronary artery disease which strongly predisposes to the atherosclerotic process at younger ages; therefore, these patients should be evaluated and managed more intensively for other risk factors.


2020 ◽  
Vol 40 (2) ◽  
pp. 483-494 ◽  
Author(s):  
Xi Wu ◽  
Jing Dai ◽  
Xiaoqian Xu ◽  
Fang Li ◽  
Lei Li ◽  
...  

Objective: Defective PC (protein C) pathway predisposes patients to venous thromboembolism (VTE) and is mostly, but not exclusively, attributed to hereditary PC or PS (protein S) deficiencies and activated PC resistance caused by factor V Leiden mutation. Approach and Results: In a patient with acute mesenteric venous thrombosis and positive family history of VTE associated with the impaired PC pathway function determined by thrombin generation test, we identified a novel heterozygous prothrombin mutation p.Arg541Trp. Two more patients with positive family history of VTE carrying the same mutation were identified in a cohort of another 373 unrelated patients, making an overall prevalence of 0.8%. Family investigation revealed 11 individuals in the 3 pedigrees harboring the heterozygous prothrombin p.Arg541Trp mutation, and 8 of them (72%) had experienced episodes of VTE. Functional studies indicated the mutation moderately decreased procoagulant activity of prothrombin and had mild impact on the inactivation of thrombin by its inhibitor antithrombin. However, the amino acid residue substitution significantly compromised PC activation by thrombin, both in the absence and presence of soluble thrombomodulin, and thus rendered prothrombin function procoagulant biased. Conclusions: In summary, the prothrombin p.Arg541Trp mutation constitutes a new genetic risk factor of VTE by impairing function of PC pathway and tilting thrombin’s procoagulant activity over anticoagulant function.


Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 442-442
Author(s):  
XI WU ◽  
Dai Jing ◽  
Fang Li ◽  
Qin Xu ◽  
Changming Chen ◽  
...  

Defective protein C (PC) pathway predisposes patients to venous thromboembolism (VTE)and is mostly, but not exclusively, attributed tohereditary PC or protein S (PS) deficiencies and activated PC resistance caused by factor V Leiden mutation. In a patient with acute mesenteric venous thrombosis and positive family history of VTE associated with the impaired PC pathway function determined by thrombin generation test, we identified a novel heterozygous prothrombin mutation p.Arg541Trp. Two more patients with positive family history of VTE carrying the same mutation were identified in a cohort of another 373 unrelated patients, making an overall prevalence of 0.8%. Family investigation revealed 11 individuals in the three pedigrees harboring the heterozygous prothrombin p.Arg541Trp mutation, and 8 of them (72%) had experienced episodes of VTE. Functional studies indicated the mutation moderately decreased procoagulant activity of prothrombin and had mild impact on the inactivation of thrombin by its inhibitor antithrombin. However, the amino acid residue substitution significantly compromised PC activation by thrombin, both in the absence and presence of soluble thrombomodulin, and thus rendered prothrombin function procoagulant biased. In conclusion, the prothrombin p.Arg541Trp mutation constitutes a new genetic risk factor of VTE by impairing function of PC pathway and tilting thrombin's procoagulant activity over anticoagulant function. Figure Disclosures Ding: Shanghai General Hospital affiliated to Shanghai Jiao Tong University, Shanghai: Patents & Royalties: W.W, Q.D and X.W of the co-authors are named as inventors on a patent application related to this work.. Wang:Ruijin Hospital, Shanghai Jiao Tong University School of Medicine: Patents & Royalties: W.W, Q.D and X.W of the co-authors are named as inventors on a patent application related to this work.. WU:Ruijin Hospital, Shanghai Jiao Tong University School of Medicine: Patents & Royalties: W.W, Q.D and X.W of the co-authors are named as inventors on a patent application related to this work..


2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A848-A848
Author(s):  
Rasha Alradadi ◽  
Erica A Eugster

Abstract Background: The most common cause of acquired primary hypothyroidism is autoimmune thyroiditis which is typically associated with positive anti-thyroid peroxidase and/or anti-thyroglobulin antibodies. However, some children present with primary hypothyroidism and negative antibodies. Whether there are differences between patients with acquired primary hypothyroidism who have positive vs negative anti-thyroid antibodies has not been systematically examined. Aim:To define the characteristics of patients with primary hypothyroidism and negative antibodies. Methods: A retrospective chart review of patients with hypothyroidism seen in the pediatric endocrine clinic at Riley Hospital for Children in Indianapolis, Indiana from August 2016 until December 2019 was performed. Variables examined included age at diagnosis, signs and symptoms at presentation, height, weight, BMI, TSH, FT4, T4, thyroid peroxidase and anti-thyroglobulin antibodies, family history of thyroid disease, physical exam at diagnosis, and associated diseases. Results: Of 173 patients aged 10.6 ± 3.9 years, 128 (74%) had positive antibodies and 44 (26%) had negative antibodies. Of those with positive antibodies, 80 % were female and 20% were male. Of those with negative antibodies, 53% were female and 47% were male. No differences were seen in the incidence of obesity or Down syndrome in patients with positive antibodies compared with those who had negative antibodies. A positive family history of thyroid disease was present in 45% of those with positive antibodies and in 22% of those with negative antibodies, P=0.006 Fifty-eight patients (45%) with positive antibodies reported excessive fatigue and 40 (31%) had a goiter. In contrast, 10 (22.7%) who had negative antibodies reported mild intermittent fatigue, P=0.006 and 7 (15.9 %) had a goiter, P=0.04 The average TSH in the antibody positive group was 129± 230 mcu/ml compared with 48 ± 131 mcu/ml in those with negative antibodies, p=0.04. A trend was also noted for a lower FT4 in those with positive antibodies (0.68±0.37 vs 0.85±0.27, p=0.050) No other differences in baseline characteristics were seen between patients with negative vs positive antibodies. Conclusion: Patients with positive anti-thyroid antibodies had more severe hypothyroidism and were more likely to report extreme fatigue than those with negative antibodies. It is unknown why some children with acquired primary hypothyroidism presumed due to autoimmune thyroid disease have negative antibodies. Long-term follow-up will be needed to determine whether the natural history of thyroid disease in children with primary hypothyroidism is associated with antibody status.


2008 ◽  
Vol 136 (5-6) ◽  
pp. 262-266 ◽  
Author(s):  
Slavica Markovic ◽  
Gordana Kostic ◽  
Zoran Igrutinovic ◽  
Biljana Vuletic

INTRODUCTION Hashimoto's thyroiditis (HT) is a common cause of goitre and hypothyroidism in children and adolescents. Spontaneous remission may occur in up to 50% patients, but the development of hypothyroidism is possible. OBJECTIVE We investigated the clinical manifestations, course and long-term outcome of HT. METHOD We reviewed charts of 43 children (36 females) with HT, mean age at presentation 12.3 years, and mean follow-up duration 4.6 years. RESULTS HT is five times more common in females. The common complaints leading to referral were goitre in 19 children (44.3%), diffuse in 17 children (89.5%). As to the prevalence of goitre, it accounted for significantly more referrals in females (14 girls, and 5 boys; 73.7% vs 26.3%, t-test; p<0.005). Goitre was either isolated in 15 (34.4%) or associated with other complaints in 4 children: anemia in 7 (16.2%), fatigue in 5 (11.8%), increased appetite in 4 (9.7%), weight gain in 3 (7.0%), growth retardation in 2 children (4.7%), at irregular menses in 3 pubertal girls. Hypothyroidism was present in 18 patients (41.1%), 7 (38.8%) on initial admission, and 11 (61.8%) had the mean follow-up duration of 4.6 years. There were 25 euthyroid HT patients (59.9%). The family history of the thyroid disease was positive in 16 children (37.1%) and 12 of them (71.4%) had hypothyroidism. There were 6 patients (13.9%) in whom the disease was associated with some other autoimmune disease. CONCLUSION HT is five times more common in females. The usual complaints leading to referral were diffuse goitre, which accounted for significantly more referrals in females. A positive family history of autoimmune thyroid disease is associated with a higher risk of hypothyroidism in children with HT. Hypothyroid patients may appear in higher percentage of children and adolescents than previously reported.


1995 ◽  
Vol 10 (5) ◽  
pp. 264-265 ◽  
Author(s):  
PK Mazumdar ◽  
MA Najib ◽  
SL Varma

SummaryA patient with multiple psychosomatic disorder developed a steroid induced rare bipolar mood disorder (both mania and depression). The “unmasking effect” of steroids and a positive family history of psychiatric disorder as a possible risk factor, hitherto undocumented, is suggested in steroid induced psychosis.


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