Familial mediterranean fever genotype in childhood in Syria - pilot study

Objective: The study aims to detect repetitive genotype in children with Familial Mediterranean Fever [FMF] campaign in Syria, as some genotypes associated with worst prognosis

Methods: A retrospective study on patients with FMF symptoms with positive genotyping was done during six years [from 2006 until 2012] in the pediatric gastroenterology and nutrition clinic in Damascus. Genotyping includes: Category I [confirmed FMF]: Type 1: Homozygote. Type 2: Multi Homozygote. Type 3: Multi Heterozygote. Category II include simple Heterozygote

Results: The total number of included patients in the study was 27 patients, age from 2 and 12 years [mean age 6years], male/female ratio is 2: I, 16 are from the category I, and 11 from category II. Thirteen out of 27 [46.6%] patients were positive E148Q genotype, in the first category the most common genotype was M694V [4 out of 11, 36.4%]. In case of heterozygote, the most common simple genotype is E148Q [9 cases]. M694Vwas the most common genotype in the first category [7 out of 16]

Conclusions: M694V, was the most common genotype in Familial Mediterranean Fever [FMF] cases, and further studies are needed to confirm this result

Diagnosis of biliary atresia in Syrian population

This study aims to define the role of the liver biopsy and scintigraphy in the diagnosis of the bilairy atresia [BA] in a developing country, as the first published study in our country [Syria]. Twenty two patients with cholestatsis, during 2008-2009, were studied for clinical presentations, total bilirubin, SGPT, PT, liver biopsy [LB], scintigraphy [SNT], and cholangiography in positive cases. The false positive and negative cases of SNT were analyzed. Nine patients completed the study, 5 males, and 4 females. Age range between 21 and 120 days, mean age 73.1 days. SNT and LB was incompatible with BA in all 9 cases. Cholangiography proved extrahepatic biliary atresia in 7 cases [77%] and was normal in 2 cases [23%], thus LB and SNT gave false results in these cases. Our study proves again that the diagnosis of biliary atresia can't be made by only one tool, the cholangiogram still the best and final test to make it

[Obesity and overweight: prevalence and risk factors in school aged children in Damascus - pilot study]

Determination of prevalence and risk factors of obesity and overweight in comparison of a private and public schools children including life style, and some nutrition habits. Prospective study in two schools: private and public school, in the same geographical region in Damascus city, during the primary level. Total number is 298 children, [141 males and 157 females], the overweight prevalence [including obesity] is 40% in the private school, 9.5% in the public school. The obesity is more prevalent in females than males [21.5% versus 18.5% in the private school, 8.3% versus 1.2% in the public school]. The total television watching hours and the computer games, low physical activity, fast food, and soft drinks are more prevalent, the breakfast taking is lower in overweight and obesity group in both schools. Obesity is more prevalent in the private school than the public school, secondary to the economical status, the lifestyle and the food habits play an important role in the obesity and overweight development

Reconsiderations on the value of the celiac diet in patients without intestinal biopsy

To evaluate the effectiveness of a gluten free diet in symptomatic patients who are thought to have celiac disease but who have not undergone a definitive biopsy and to evaluate the accuracy of other diagnostic methods. This was a prospective study that included all patients with symptoms of celiac disease who were seen in a central pediatric gastroenterology clinic in Damascus over a three year period [from September 2002 to September 2005]. A gluten free diet had been applied for at least three months and then stopped. At that time, anti endomysial antibodies were measured and growth curves analyzed. There were 44 subjects on gluten free diet, ranging in age from six months to 11 years. At the beginning of the study, the d-xylose test was positive in 54%; no test was done in 25%; and 21% were included on the basis of: stool analysis [10%], anti endomysial antibody [3%], or intestinal x-rays [8%]. The duration of gluten free diet was three months to four years. Over a third of the patients [37.5%] were on a gluten free diet for more than one year. Diagnostic procedures [anti endomysial antibody and growth curves] were repeated. After the gluten free diet ended, anti endomysial antibodies became positive in two cases. The growth curve changed in one other case. In all three of these cases, the intestinal biopsies were compatible with celiac disease according to the Marsh classification. Thus celiac disease was present in only 6.81% of the children undergoing treatment. The results suggest that a gluten free diet should not be applied without the confirmation of a small intestinal biopsy. A small percentage of children with symptoms of celiac disease were confirmed to have this diagnosis

Results of the new WHO therapeutic protocol in the management of severe malnutrition in Syria

To test the applicability of the new WHO therapeutic protocol in the management of severe malnutrition in childhood in Syria. Methods and Materials: There were 21 children, 12 males and 9 females, suffering from marasmus [16 cases] and marasmic kwashiorkor [5 cases] hospitalized in the Pediatrics Department of Damascus Hospital from January 1, 2001 to September 1, 2001. The new protocol was applied to all of the children included in the study. The children were reevaluated at the end of the treatment period to determine weight, symptoms, infectious status, electrolyte and protein status. The results were compared with the results of the old protocol by comparison with a retrospective study of 21 children hospitalized in 1997-1998. The patients ranged from 40 days to 36 months in age. The weights ranged from 2000-8000 grams. Symptoms were present as follows: diarrhea [71.42%], fever [61.9%], irritability [38%], vomiting [52.4%], cough [42.9%], dyspnea [19.4%], edema [present in all marasmic kwashiorkor cases], and dermal hyperpigmentation in 2 cases. There were 2 cases of pneumonia. There were no cases of meningitis. Blood cultures and urine cultures were negative. The potassium was low in one case of marasmus. The sodium was low in two cases of marasmus. Hypoproteinemia was noted in 28.5%. Hypoalbuminemia was noted in 23.8%. Total hospitalization duration was 9.29 days compared with 12.6 days using the old protocol. The average weight gain during hospitalization was 30.41% in the marasmus cases compared with 3.41% using the old protocol. The weight gain in the marasmic kwashiorkor patients was 4.14%. All of the patients were improved at the end of hospitalization with the exception of 2 cases that were discharged before the end of the protocol against medical advice as requested by the parents. There were no deaths with the new protocol whereas 38% died with the old protocol. Patients were symptom free and all electrolyte abnormalities and infections had disappeared by the end of treatment. This study demonstrates the applicability and efficacy of the new protocol. We recommend that it be used in all Syrian centers in the treatment of severe malnutrition cases

Advances in nutritional management of severe malnutrition in pediatrics

A new protocol for the management of severe malnutrition in pediatric patients has been developed during the last decade. The previous protocol was associated with a high mortality rate [40%] and unsatisfactory weight gain. Many patients were still clinically malnourished at the end of the hospital stay. This new protocol utilizes recently acquired knowledge concerning the pathophysiological mechanisms in malnutrition in a management program that has been adopted successfully in many centers. The mortality rate has been reduced to about 5% in some centers, and there has been an improvement in weight gain during hospitalization. The new protocol has been endorsed by the WHO [1999], the Committee on Nutrition in the French Society of Pediatrics [1998], ESPGHAN, and NASPGHAN [2001]. This article discusses the guidelines of the new protocol on a pathophysiological basis