PFAPA and 12 common MEFV gene mutations our clinical experience

Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. 21 patients with PFAPA syndrome who had diagnostic criteria were enrolled in this study and 12 common MEFV gene mutations i.e. P369S, F479L, M680I [G/C], M680I [G/A], I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q evaluated. All the patients were screened for MEFV gene mutations by a reverse hybridization assay [FMF Strip Assay, Vienna lab, Vienna, Austria] according to the instructions provided by the manufacturer. The age of patients was between 6 months to 14 years, and 15 were males. Seven patients had heterozygote and one had compound heterozygote [K695R, V725A] mutation. There were 4 alleles M694V, 3 alleles V726A, 1 allele E148Q and 1 allele K694R. No significant difference existed between mutated patients with non-mutated in symptoms like aphthous and stomatitis, duration of attacks, episodes of fever and response to treatment. Gaslini score test was not helpful to predict the probability of gene mutations. About 30 percent of patients had MEFV gene mutations but these mutations did not play a main role in presentation of PFAPA symptoms

[Relationship between Helicobacter pylori infection and iron deficiency anemia among 2 to 12 year-old children in Ardabil, Iran]

Helicobacter pylori [H. pylori] infection is a common bacterial infection in humans. Approximately half of the people throughout the world are infected by this gastric microbial pathogen. The outcome of H. pylori infection varies from gastritis to peptic ulcers, duodenal ulcers and gastric malignancies. This study aims to estimate the prevalence of H. pylori infection and iron deficiency anemia, and the possible association between these two variables among children aged 2-12 years from Ardabil, Northwest Iran. In this analytical and cross-sectional study, we randomly selected 960 children that ranged in age from 2-12 years that referred to pediatric clinics in Ardabil during February, 2011 to February, 2012. Patients' blood and stool samples were collected to assess for H. pylori infection and iron deficiency anemia. H. pylori infection was evaluated by the Helicobacter pylori Stool Exam Antigen Test [HPAT]. To determine the presence of iron deficiency anemia, we measured patients' serum levels of Hemoglobin[Hb], Serum Iron[SI], Ferritin and Total Iron Binding Capacity[TIBC]. Data were analyzed by SPSS [version 18] software. Of the 960 participants, we detected H. pylori infection in 360 [37.5%] cases, 140 [38.9%] were males and 220 [61.1%] were females. Iron deficiency anemia was present in 80 [7.3%] cases. Of these, only 25 [6.9%] were positive for both H. pylori infection and iron deficiency anemia. This study confirmed a high prevalence of H. pylori infection among 2-12 year-old children. We observed a significant relationship between H. pylori infection and gender [p=0.001]. There was no significant association between H. pylori infection and iron deficiency anemia [p=0.278]

Dapsone as an alternative therapy in children with familial mediterranean fever

Familial Mediterranan Fever is an hereditary autoinflammatory disease that presents with recurrent febrile attacks and poly serositis. Colchicine is the only known treatment in this diease. However, nearly 5-10% of patients are resistant to colchicines. There are many different modalities in colchicine resistant patients, biologic and immunosupressive drugs being the known ones. We studied the efficacy of Dapsone as an anti inflammatory drug in children with FMF who did not tolerate colchicine well. This is a case series study in 10 patients who had FMF on the base of Tel-Hashomer criteria and did not tolerate colchicine or did not respond to it well. Patients took 2mg/kg dapsone in single dose, during 6 months. In four patients episodic attacks returned after 27 days, so the drug was discontinued. One patient refused to continue the study; in five patients dapsone was taken in average for 8 months and 6 days, at least for 6 months. These five patients had no episodes of attack during the following observation. Dapsone could control episodic attacks of FMF in 50% of cases. It might be considered as an alternative therapy in FMF cases not responding to colchicine

Predisposing factors of brain abscess in Ardabil

Brain abscess is a focal intracerebral infection, which begins as a localized area of cerebritis and develops into a collection of pus surrounded by a well-vascularized capsule. In the present study, we studied all patients with brain abscess admitted in Ardabil Fatemi hospital. In a retrospective hospital-based study, 24 patients with brain abscess entered the study. Medical records of patients were reviewed from January 2004 to January 2006. Brain abscess was defined as one or more localized lesions with the following characteristics in brain imaging [CT scan]: hypodense center with a peripheral uniform ring enhancement following the injection of contrast material, or affected region surrounded by variable hypodense area of brain edema or nodular enhancement or area of low attenuation without enhancement. Predisposing factors for brain abscess were surveyed by reviewing medical records. The study population included 17 males and 7 females with the mean age [ +/- standard deviation] of 27.0 +/- 21.3 years. The following predisposing factors were noted in 22 [[91.6%] patients; contiguous focus of infection [sinusitis and chronic otitis media] in 10 [41.6%], congenital heart disease in 5 [20.8%], post traumatic complications in 3 [12.5%], super infected hydatid cyst in 2 [8.3%] and neurosurgical complications in 2 cases [8.3%]. Ear in cerebellar and temporal lobe, frontal sinus in frontal lobe and heart in parietal lobe abscesses should be evaluated for the possible source of infection. Meanwhile, hydatid cyst may be an important risk for brain abscess in endemic areas like Ardabil