Skip to search formSkip to main contentSkip to account menu
Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
TLDR
Genome-wide analyses identify eight independent loci associated with anorexia nervosa, and implicate both psychiatric and metabolic components in the etiology of this disorder, even after adjusting for the effects of common variants associated with body mass index.
View on Springer
Treatment of hyperthyroidism in pregnancy and birth defects.
CONTEXT Clinical hyperthyroidism is not uncommon in pregnancy, with a reported prevalence of 0.1 to 0.4%. The available antithyroid drugs are propylthiouracil and methimazole/carbimazole. …
View on PubMed
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
View on PubMed
First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis.
TLDR
There is currently no evidence that metformin is associated with an increased risk of major birth defects in women affected by PCOS and treated during the first trimester, but larger ad hoc studies are warranted in order to definitely confirm the safety and efficacy of this drug in pregnancy.
View on PubMed
Functional connectivity correlates of response inhibition impairment in anorexia nervosa
View on Elsevier
Genetics of Coenzyme Q10 Deficiency
TLDR
It is of critical importance that physicians promptly recognize these disorders because most patients respond to oral administration of CoQ10, a clinically and genetically heterogeneous disorder.
View on PubMed
Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns.
TLDR
A significant improvement in survival of individuals with EA over the past decades is detected and the strongest predictors of mortality are identified, important for the planning of the clinical management and formulation of prognosis when EA is diagnosed in a newborn.
View on PubMed
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography
TLDR
Retinal vascular abnormalities are present in a limited proportion of patients affected by NF1 and can be considered an additional distinctive sign of the disease.
View on Wolters Kluwer
Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies
TLDR
5HTTLPR does not seem to be associated with ED in general, or with AN or BN in particular, and the role of ethnicity and psychiatric comorbidity as a possible source of bias should be explored.
View on Taylor & Francis
Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A
View on Elsevier
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License