28 research outputs found
Early age onset familial Mediterranean fever associated with compound heterozygote M680I /M694V mutation
Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rash. The clinicalvariability of the disease has been mainly attributed to MEFV gene allelic heterogeneity and partly to the influence of additional genetic and/or environmental factors. We present a 6-month-old boy who suffered from recurrent fever accompanied by abdominal pain and skin rashes. Molecular screening by polymerase chain reaction (PCR) and sequencing for common mutations causing FMF revealed presence of a 694V/680I compound heterozygote mutation in exon 10 of the related gene. This is thefirst report of early onset and severe phenotype FMF case associated with a 694V/680I compound heterozygote mutation
Correlation between maternal and cord blood leptin and fetal growth
Leptin is a protein secreted mainly by the adipocyte in proportion to fat mass. The serum leptin concentration reflects the amount of adipose tissue in the body and has potential role on the fat deposition in the fetus. In the present study, we investigated whether umbilical and maternal serum leptin concentrations correlate with fetal growth. In addition, we determined the relationship between leptin concentration in the maternal and cord blood. We studied 100 newborn infants (48 female and 52 male; gestational age, 34 - 40 weeks) and their mothers at Alzahra hospital in Tabriz city. Serum leptin concentrations were measured by ELISA and linear regression analysis was used to evaluate correlation. In the results, there was no significant correlation between umbilical and maternal leptin concentrations (r = 0.011; p = 0.459) in all study groups. There was a correlation between umbilicalleptin concentration and birth weight of newborns (r = 0.278; p = 0.003) and correlation with body mass index (BMI) of the newborns (r = 0.249; p = 0.006). Maternal leptin concentrations correlated withmaternal weight and BMI (r = 0.277; p = 0.003, r = 0.290; p = 0.002, respectively). There was no correlation between maternal leptin concentrations and birth weight (r = - 0.162; p = 0.054) and with BMIof the newborns (r = - 0.158; p = 0.058). There was gender difference in leptin concentrations in the newborns (r = 0.331; p = 0.00025) with greater level in females. In conclusion, we have shown that theassociation between umbilical serum leptin and birth weight in this and other studies suggests a pivotal role of fetal leptin in regulating fetal growth and development
Estimation of umbilical cord blood leptin and insulin based on anthropometric data by means of artificial neural network approach: identifying key maternal and neonatal factors
"Incidence And Epidemiology Of Esophagitis In Children Admitted To Endoscopy Unit Medical Center Of Children In Tehran "
Background: There has been a little attention to pediatrics esophagus problems until recent years. The term esoghagitis can be used to described chemical, infectious, inflammatory, ischemic, immunologic and degenerative abnormalities. Prevalence of reflux esophagitis varies between 2 to 5 percent of general population but little data about its incidence in pediatric age groups. The aim of this study was to evaluate the epidemiology and prevalence of esophagitis and study of symptom, diagnostic measures, therapeutic intervention and prevention of its complication. Materials and Methods: In this prospective and cross sectional study 500 patient under16 years with upper digestive complaints or alteration of their state of health under went upper endoscopy, with special attention paid to esophagus. Results: Among 500 children (205 male, 207 female), pathology reported esophagi is in 325 cases. Majority of the patient were 8 to12 years. Most common complaints was abdominal pain (45/7%) and the second complaints was vomiting (13%), but most common complaints in severe esophagitis was melena (66%) and hematemes(18/8%). Most of patient (63% ) had a mild grade of esophagitis. When difference between endoscopy and pathology compared: Mild esophagitis in endoscopy (67%) ,but in pathology was (63%), moderate esophagitis (14/7%) in endoscopy was (17%) in pathology and severe form 2/8% in endoscopy but (4/9%)in pathology. Conclusion: According to results of our study in children age group with chronic abdominal pain ,vomiting ,excessive regurgitation, failure to thrive, we noticed that esophagitis is common etiologic factor. Histological esophagitis frequently occur in the absence of gross endoscopic findings and we need biopsy and histological examination to confirm diagnosis
Glycogen storage disease with inflammatory bowel disease and hepatic adenoma
Objective: Inherited metabolic diseases, including glycogen storage
disease (GSD), are frequently seen in Iranians due to the high
consanguinity rate, but the distribution of various types of GSD is
unknown. Hypoglycemia, hepatomegaly, growth retardation,
hyperlipidemia, hyperlactacidemia, and hyperuricemia are the common
features of GSD type 1, inflammatory bowel disease (IBD)-like colitis
is a known entity in GSD. Case presentation: We report a female patient
with type Ia GSD (GSD Ia) who was followed-up for more than 17 years.
GSD Ia was diagnosed based on biochemical tests and the pathology from
a liver biopsy as she was 3 years old. Conclusion: With ageing, more
and more complications will develop, of which those related to liver
adenomas are likely to be major causes of morbidity and mortality
Caustic Ingestions
Prevention has a main role in reducing the occurrence of corrosive ingestion especially in children, yet this goal is far from being reached in developing countries, where such injuries are largely unreported and their true prevalence simply cannot be extrapolated from random articles or personal experience. Because of the accidental nature of the ingestions, the case fatality rate for pediatric patients is significantly less than that of adolescents and adults. Currently, esophagoscopy is recommended for all patients with a history of caustic substance ingestion because clinical criteria have not proved to be reliable predictors of esophageal injury. The presence or absence of three serious signs and symptoms-vomiting, drooling, and stridor—as well as the presence and location of oropharyngeal burns could be compared with the findings on subsequent esophagoscopy. Medical or endoscopic prevention of stricture is debatable, yet esophageal stents, absorbable or not, show promising data. The purpose of this lecture is to outline the current epidemiology, mechanism of injury, clinical manifestations, management and long-term complications of caustic ingestions in pediatric patients. Key Words: Caustic, Children, Ingestions