Genetic factors related to nitric oxide and biochemical changes in obesity of children and adolescents

Author(s):  
Josiane Aparecida de Miranda
Author(s):  
Ricardo J. Saranz ◽  
Natalia A. Lozano ◽  
Alejandro Lozano ◽  
Graciela Alegre ◽  
Paula Robredo ◽  
...  

Author(s):  
Zeynep Şıklar ◽  
Merih Berberoglu ◽  
Senay Savas Erdeve ◽  
Bülent Hacihamdioglu ◽  
Gönül Öcal ◽  
...  

2017 ◽  
Vol 117 (02) ◽  
pp. 277-285 ◽  
Author(s):  
Edward D. Gomperts ◽  
John Schwarz ◽  
Sharyne M. Donfield ◽  
Alice E. Lail ◽  
Jan Astermark ◽  
...  

SummaryHaemophilia A is a congenital bleeding disorder characterised by recurrent haemorrhages into the major joints. Haemophilic arthropathy is a well-established outcome of recurrent joint bleeding; however, it is clear that multiple factors determine the extent and severity of its occurrence. We sought to identify genetic factors related to abnormalities in range of motion (ROM) in the knees, ankles and elbows in a cohort of children and adolescents with haemophilia A not treated primarily with regular prophylaxis. Using data from the Haemophilia Growth and Development Study, we examined associations between 13,342 genetic markers and ROM scores measured at six-month intervals for up to seven years. As a first step, ordered logistic regression models were fit for each joint separately. A subset of SNP markers showing significant effects (p<0.01) on the right and left sides for at least two joints were included in a full model fit using a multivariate generalised linear mixed model assuming an ordinal response. The models contained all ROM scores obtained at all visits. Twenty-five markers analysed in the full model showed either increased or decreased risk of ROM abnormalities at the p<0.001 level. Several genes identified at either the first or second stage of the analysis have been associated with arthritis in a variety of large studies. Our results support the likelihood that risk for haemophilic arthropathy is associated with genetic factors, the identification of which holds promise for further advancing the individualisation of treatment.


2012 ◽  
Vol 47 (11) ◽  
pp. 1070-1079 ◽  
Author(s):  
Jirina Chládková ◽  
Marian Senkerík ◽  
Zuzana Havlínová ◽  
Irena Krcmová ◽  
Jaroslav Chládek

2020 ◽  
Vol 3 (1) ◽  
pp. 047-055
Author(s):  
Yuan Ke ◽  
Wang Chunlin

Premature ovarian insufficiency (POI) is a rare disease, especially in children and adolescents. It was previously called premature ovarian failure (POF). It can be manifested as delayed puberty, primary or secondary amenorrhea that occurred before the age of 40 years with no less than two abnormal serum sex hormones (low estrogen and high gonadotropin). It is reported that the incidence rate is 1% at the age of 40 years and 0.01% at the age of 20 years. Although the disease usually occurs in middle-aged and elderly women, clinical practice in recent years has shown that it has also been found in adolescents and even children. It is generally believed that the etiology of POI includes genetic factors, immune factors, and iatrogenic factors. So far, several genetic mutations that may cause POI have been found clinically, but the etiology of 90% of POI is still unknown. In recent years, the incidence of POI in children and adolescents has increased, and there are more urgent requirements for its early diagnosis, treatment, and clinical management. Based on this, this article will mainly review the research progress of the etiology, treatment, and clinical management of POI in children and adolescents.


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