congenital lobar emphysema is a rare cause of respiratory distress during infancy which is cured by surgery. we are reporting three cases of congenital lobar emphysema with different presentations of the disease. chest x-ray was the basis of diagnosis but confirmatory lung computerized tomography was also used. the emphysematous lobe was left upper lobe in two infants and right upper and middle...

severe  congenital  neutropenia  (scn)  is  a  rare  primary  immunodeficiency   disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr  and  g6pc3.  the  aim  of  this  study  was  to  find  different  gene  mutations responsible for scn in iranian patients. twenty-seven   patients   with   scn  referred   to  immunology,   asthma   and  allergy r...

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

objective deficient enzyme activity may cause congenital metabolic defects. these defectsare inherited in an autosomal recessive, autosomal dominant, and x-linkedpatterns. this study was aimed at investigating the occurrence of metabolicdiseases in qazvin province. materials & methods this cross-sectional study was performed on 79,100 children aged 12 years orless between 2000 and 2010. clinica...

retinoic acid (ra) plays a key role in pattern formation along the major body axis and limbformation during vertebrate development. exposure to excessive retinoic acid (in uterus) generatescongenital malformations in limbs, craniofacial, cns, urogenital, heart, and axial skeletons. in thesestudies, seven groups of nmri pregnant mice were administered a single gavage dose of 100 mg /kgbody weigh...

background and objective: congenital heart disease (chd) is the most form of cardiovascular disease in children. chd have different presentations, from defects that progress asymptomatically to those with significant symptoms and high mortality. this study was performed to highlight the importance of signs and symptoms to diagnosis of chd neonates. materials & methods: this descriptive an...

conclusions in the children in this study, pacemaker accelerometers failed to meet physiological demands. results basal heart rates, maximal heart rates, and exercise tolerance were significantly lower in the children with pacemakers. age, sex, and body mass index had no effect on the heart rate slope during the exercise test. there was no significant difference between epicardial and endocardi...

congenital chylothorax is an uncommon cause of respiratory distress and a life-threatening condition in newborns. it is identified by abnormal accumulation of chyle in the pleural space. herein, we report a male infant who was born by a successful vaginal delivery. after the first three days of life, he had feeding difficulties and cyanotic episodes during breastfeeding. on admission, physical ...

cornelia de lange syndrome (cdls) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. in classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. in t...

introduction pelvic pain results from many causes such as primary dysmenorrhea, uterine anomalies, menstrual outflow obstruction, endometriosis, myoma and adenomyosis. this study reports on a rare case of non-communicating functional rudimentary horn. case presentations a 15-year-old nulligravida young woman with a history of severe intermittent pelvic pain presented a 4-5 centimeter mass. a su...