the activity of angiotension converting enzyme (ace; omim: 106180) in different brain regions of patients with schizophrenia changed, suggesting a possible involvement of ace in psychiatric disorders. genetic polymorphism of insertion/deletion (i/d; dbsnp rs4646994) in the gene encoding ace has been well defined.the present case-control study was performed on 363 (268 males, 95 females) in-pati...

introduction the incidence of liver damage due to steroid consumption is increasing due to the omnipresence of the idealized body image and the widespread availability of drugs via the internet. the genetic factors underlying individual susceptibility are not presently known. conclusions this case of pxr haploinsufficiency reveals transcriptional regulatory functions activated in the liver unde...

BACKGROUND 11q23 deletion syndrome, also known as Jacobsen syndrome, is characterized by growth retardation, psychomotor retardation, facial dysmorphism, multiple congenital abnormalities, and thrombocytopenia. In 11q23 deletion syndrome, it is often difficult to anticipate the severity of bleeding. We report a neonatal case of 11q23 deletion syndrome with bleeding that was more severe than pre...

BackgroundAttention deficit hyperactivity disorder (ADHD), is a multifactorial disorder and converging evidence has implicated abnormalities of dopamine neurotransmission. The aim of this study was to examine the association of -141 polymorphisms in DRD2 gene with ADHA among Iranian-Azeri population.Materials and Methods A case–control association study included 153 patients with attention defi...

Chromosome 22q11.2 deletion syndrome is the most common interstitial deletion syndrome. Major clinical manifestation includes hypocalcemia secondary to hypoparathyroidim. At least 10% of the patients with this syndrome had hypocalcemic seizures which are generally improved over the first year of life because of the increase of parathyroid gland hypertrophy and dietary calcium intake. We present...

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22→pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytoge...

Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a term...