Serologic, endoscopic and pathologic findings in pediatric celiac disease: A single center experience in a low/middle income country.

BACKGROUND: Studies in Africa, Asia, and Latin America are needed to provide a comprehensive picture of the global incidence of celiac disease (CD). AIM: To describe the serology, endoscopic and histological findings in typical and atypical presentations of pediatric CD at a tertiary referral hospital in an African low/middle income country (LMIC). METHODS: This observational study was conducted on 199 patients with CD from 2010 to 2019. The patients were divided into typical and atypical groups according to the presenting symptoms including 120 and 79 patients respectively. Serology, upper gastrointestinal endoscopy with duodenal biopsy were performed for patients who had symptoms suggestive of CD. The severity of the intestinal damage was graded according to the histo-pathologic Marsh-Oberhuber classification. RESULTS: Chronic diarrhea was the main intestinal presentation in the typical group. Anemia was the most common extraintestinal symptom in both the typical and atypical group. Marsh-Oberhuber type 3b and 3c was significantly higher in the seropositive patients with a P value of 0.007. A significant correlation was observed between the histological grade of the biopsied duodenal mucosa and the clinical presentation (P < 0.001). Age was significantly higher in the atypical group (P value < 0.001). CONCLUSION: Although typical CD was observed in 120 patients in this study, the clinical variability of the condition was frequently observed. Age only was a significant predictor for the appearance of atypical CD. Therefore, CD presentations in LMIC are not different from industrialized countries.

Serum Iron and Zinc Levels in Lebanese Multiple Sclerosis Patients.

PURPOSE: Multiple sclerosis (MS) is an autoimmune disease of the central nervous system that attacks mainly the myelin sheath covering the axons of neurons. Various studies have reported a potential role of zinc and iron in MS disease. The aim of this study is to estimate the serum level of iron and zinc in Lebanese MS patients. METHODS: Sixty-nine participants were enrolled in this study, 27 were diagnosed with MS according to McDonald's criteria and 42 were normal control. Subjects were matched in age. Serum iron and zinc levels were measured using colorimetric methods. Descriptive methods and Mann-Whitney U test were used in the statistical analysis. RESULTS: The mean age of MS patients and healthy subjects was 42.8 and 38.3 years respectively. The mean serum iron level in patient and control groups was 84.7 and 83.3 µg/dl respectively. The mean serum zinc level in patient and control groups was 80.6 and 82.0 µg/dl respectively. No significant association was observed between serum iron and zinc levels in both groups. No association was also observed between serum iron and zinc levels in terms of gender. CONCLUSION: Our results showed no significant difference in serum iron and zinc levels between MS patients and healthy controls.

Clinical and Environmental Surveillance of Rotavirus Common Genotypes Showed High Prevalence of Common P Genotypes in Egypt.

The objective of this study was to compare the prevalence of human rotavirus group A common G and P genotypes in human Egyptian stool specimens and raw sewage samples to determine the most common genotypes for future vaccine development. From 1026 stool specimens of children with acute diarrhea and using nested RT-PCR, 250 samples (24.37%) were positive for human rotavirus group A. Using multiplex RT-PCR, rotavirus common P and G genotypes were detected as 89.20% and 46.40% of the positive clinical specimens respectively. This low percentage of common G genotypes frequency may affect the efficiency of the available live attenuated oral rotavirus vaccines [Rotarix® (human rotavirus G1P[8]) and RotaTeq® (reassortant bovine-human rotavirus G1-4P[5] and G6P[8])], however the percentage of clinical specimens which were negative for common G genotypes but positive for P[8] genotype was 12.00%. From 24 positive raw sewage samples for rotavirus group A VP6 collected from Zenin and El-Gabal El-Asfar wastewater treatment plants (WWTPs), 21 samples (87.50%) were typeable for common P genotypes while 13 samples (54.17%) were typeable for common G genotypes. Phylogenetic analysis of a VP8 partial gene of 45 P-typeable clinical isolates and 20 P-typeable raw sewage samples showed high similarity to reference strains and the majority of mutations were silent and showed lower to non-significant similarity with the two vaccine strains. This finding is useful for determining the most common antigens required for future vaccine development.

Factors affecting the outcome of endoscopic dilatation in refractory post-corrosive oesophageal stricture in Egyptian children: a single-centre study.

BACKGROUND: An important complication of corrosive ingestion is oesophageal stricture. Improvements in endoscopes and accessories have supported an increase in the number of patients who are conservatively treated with endoscopic dilations. In this study, we aimed to detect factors affecting the outcome of endoscopic dilatation for refractory post-corrosive oesophageal stricture. METHODS: This study was carried out in the Paediatric Endoscopy Unit in the Children's Hospital and included 100 children older than 2 years of age of both sexes who had an established diagnosis of post-corrosive oesophageal stricture on repeated endoscopic dilatation sessions. The duration of the condition was more than 6 months, and dilatation failed to achieve a diameter of 14 mm during the first five sessions at 2-week intervals (refractory), excluding other causes of oesophageal stricture. RESULTS: Males represented 63% of patients. The mean age of enrolled children was 5.9 ± 2.6 years; 90% of patients ingested an alkaline corrosive substance (potash). The total number of dilatation sessions ranged from 16 to 100, with a mean number of sessions ranging from 37.2 ± 14.9. Fifty-four patients (54%) were well controlled by regular endoscopic dilatation with good clinical and endoscopic outcomes, and no more dilatations were needed. CONCLUSION: Endoscopic dilation is an effective method for managing refractory post-corrosive oesophageal strictures that require a long follow-up period. There are a lot of factors affecting the outcome.

Histopathological changes in the oesophageal mucosa in Egyptian children with corrosive strictures: A single-centre vast experience.

BACKGROUND: The caustic ingestion continues to be a major problem worldwide especially in developing countries. The long-term complications include stricture and increased life time risk of oesophageal carcinoma. Patients suffered from corrosive induced oesophageal strictures have more than a 1000-fold risk of developing carcinoma of the oesophagus. AIM: To determine the possibility of oesophageal mucosal dysplasia after prolonged dilatation in post corrosive stricture. METHODS: This observational study was conducted at the Paediatric Endoscopy Unit in Cairo University Children's Hospital. It included children of both sexes older than 2 years of age who had an established diagnosis of post-corrosive oesophageal stricture and repeated endoscopic dilatation sessions for more than 6 mo. All patients were biopsied at the stricture site after 6 mo of endoscopic dilatation. A histopathological examination of an oesophageal mucosal biopsy was performed for the detection of chronic oesophagitis, inflammatory cellular infiltration and dysplasia. RESULTS: The mean age of the enrolled children was 5.9 ± 2.6 years; 90% of the patients had ingested an alkaline corrosive substance (potash). The total number of endoscopic dilatation sessions were ranging from 16 to 100 with mean number of sessions was 37.2 ± 14.9. Histopathological examination of the specimens showed that 85% of patients had evidence of chronic oesophagitis (group A) in the form of basal cell hyperplasia, hyperkeratosis and subepithelial fibrosis. Thirteen percent of the patients had evidence of reactive atypia (group B) in the form of severe neutrophilic intraepithelial inflammatory cellular infiltration, and 2 patients (2%) had mild squamous dysplasia (group C); we rebiopsied these two patients 6 mo after the initial pathological assessment, guided by chromoendoscopy by Lugol's iodine. CONCLUSION: The histopathology of oesophageal mucosal biopsies in post-corrosive patients demonstrates evidence of chronic oesophagitis, intraepithelial inflammatory cellular infiltration and dysplasia. Dysplasia is one of the complications of post-corrosive oesophageal stricture.

Gastric antral vascular ectasia in portal hypertensive children: Endoscopic band ligation versus argon plasma coagulation.

BACKGROUND/PURPOSE: Gastric antral vascular ectasia (GAVE) can cause recurrent bleeding and chronic anemia in children with portal hypertension (PHT). We aimed to evaluate the efficacy of EBL in comparison to argon plasma coagulation (APC) in children with PHT, bleeding from GAVE. METHODS: This prospective comparative study included 40 children with PHT who presented with nonvariceal GIT bleeding from GAVE. Patients were divided into 2 groups, each including 20 cases: one group was managed with APC and the other with EBL. Endoscopy was repeated every 3-4 weeks until complete ablation of GAVE. Patients were reevaluated earlier in the event of recurrence of bleeding or in case of severe anemia necessitating blood transfusion. A follow-up endoscopy was done 6 months after the last APC or EBL session. RESULTS: The ages ranged between 2 and 16 years. The EBL group required a significantly lower number of sessions for complete obliteration of the lesions (1.85 ±â€¯0.81) as compared to APC group (4.15 ±â€¯1.22), p < 0.05. EBL was superior to APC as regards shorter procedure time (p = 0.001), lower blood transfusion requirement (p < 0.05), less hospitalization (p < 0.05) and significantly lower recurrence rate of GAVE after 6 months of follow up (p = 0.01) CONCLUSIONS: EBL is more effective and time saving when compared to APC in treatment of bleeding from GAVE in children. LEVELS OF EVIDENCE: Treatment study, Level II (prospective comparative study).

Copper concentrations in Egyptian infants with cholestasis: A single center study.

BACKGROUND AND STUDY AIMS: Hepatobiliary cholestatic disorders produce excess copper (Cu) retention in the liver, which is toxic and may cause hepatitis, fulminant hepatic failure, cirrhosis and death. In this study, we measured hepatic Cu and tested its correlation with serum Cu (S. Cu) and serum ceruloplasmin (S. ceruloplasmin) in cholestatic infants. PATIENTS AND METHODS: 41 cholestatic infants were enrolled as cases and 11 healthy infants as control subjects. S. Cu and S. ceruloplasmin were done for all infants and hepatic Cu was measured in the liver specimen in cases. RESULTS: Cases were 63.5% males with their age ranging between 1 and 7 months, while control subjects were 45.5% males with an age range between 3 and 18 months. Among cases, 41.5% had biliary atresia and 58.5% had intrahepatic cholestasis. Cholestatic infants had significantly higher levels of S. Cu and S. ceruloplasmin than control subjects and their hepatic Cu concentration was significantly higher than literature control. Infants with biliary atresia showed higher levels of Cu indices, with no statistical significance. Serum and hepatic Cu levels positively correlated with each other and with S. ceruloplasmin. Results of ROC curve showed that S. Cu was highly sensitive and specific for predicting hepatic Cu concentration at cut-off 181 µg/dl. CONCLUSION: Serum and hepatic Cu concentrations were markedly elevated in patients with cholestasis and positively correlated with each other and with S. ceruloplasmin. S. Cu level can predict hepatic Cu concentration.

Haemophagocytic lymphohistiocytosis presenting as neonatal liver failure: A case series.

BACKGROUND AND STUDY AIM: Haemophagocytic lymphohistiocytosis (HLH) is a life-threatening clinical syndrome with liver involvement varying from mild dysfunction to severe fulminant failure. The aim of this study was to present a case series of four HLH patients presenting with acute liver failure (ALF) in the neonatal period. PATIENTS AND METHODS: All four patients were neonates at the onset of symptoms. They presented to Cairo University Pediatric Hospital with ALF; they underwent prompt investigations including determination of ferritin, fibrinogen, and triglyceride levels as part of our ALF workup. Further investigations were tailored according to the associated clinical features and the results of preliminary investigations. RESULTS: HLH was diagnosed according to HLH-2004 criteria. Three patients fulfilled at least five out of eight criteria. Fever, splenomegaly, elevated ferritin levels, and low fibrinogen levels were present in all patients. The fourth patient had a serum ferritin level >10,000ng/ml, favouring the diagnosis of HLH, despite fulfilling only four out of eight criteria. For three patients, positive consanguinity and previous sibling death were reported, suggesting a genetic aetiology of HLH. CONCLUSION: ALF can be the presenting feature of HLH; thus, a high index of suspicion is necessary. Fever is a hallmark, especially in neonates. Diagnosis is important for this potentially treatable condition.

Extrahepatic portal vein obstruction in Egyptian children.

BACKGROUND AND AIM: Extrahepatic portal vein obstruction (EHPVO) is an important cause of portal hypertension in children. The aim of this study was to describe the clinical presentation, possible risk factors, upper gastrointestinal endoscopic findings, and treatment modalities of children with EHPVO. METHODS: After ethical approval of our study protocol by our institution review board, we analyzed available data from medical records of patients with EHPVO presenting to the Pediatric Hepatology Unit, Cairo University Pediatric Hospital, Egypt, for a period of 15 years from January 1996 to December 2010. RESULTS: The study included 169 patients. Their ages at presentation ranged from 1 month to 12 years (median 2.5 years, interquartile range 5); 101 were boys. Hematemesis was a presenting symptom in 58%, splenomegaly was present in 87%, esophageal varices were present in 94%, and fundal varices were present in 23%. Possible risk factors, in the form of umbilical catheterization, umbilical sepsis, and exchange transfusion, were elicited in 18%. Propranolol was associated with reduction in bleeding episodes (P < 0.001), but was associated with increased chest symptoms (P < 0.01). Both injection sclerotherapy and band ligation were effective in the management of bleeding varices and for primary and secondary prophylaxis; however, injection sclerotherapy was associated with the development of secondary gastric varices (P = 0.03). CONCLUSIONS: This large study of children with EHPVO demonstrates the efficacy of propranolol in the reduction of gastrointestinal bleeding in children with EHPVO. Both injection sclerotherapy and band ligation were effective in the management of esophageal varices, although the former was associated with the development of secondary gastric varices. Randomized clinical trials to choose the best modalities for the management of portal hypertension in children are still lacking.

Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases.

BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is an increasingly recognized inborn error of metabolism among Egyptian children. This study was undertaken to define the presenting clinical, biochemical and imaging features and outcome of 2-(2-motrp-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) therapy and liver transplantation in a cohort of Egyptian children diagnosed with HT1. METHODS: The study was carried out at the Pediatric Hepatology Unit at Cairo University Children's Hospital. HT1 was diagnosed by quantification of succinylacetone (SA) in dry blood spots. RESULTS: Twenty-two patients were diagnosed with HT1 in a period of 3 years from August 2006 to July 2009. Infants with focal hepatic lesions and hepatomegaly (n=13) were younger at diagnosis than those with rickets (n=5) (median age: 3.25 vs. 10 months; P=0.05). Alpha fetoprotein was highly elevated in all children. Seven children died within a few weeks of diagnosis before therapy was initiated. Ten children were treated with NTBC. The response to NTBC treatment was apparent by a steep drop in serum alpha fetoprotein (AFP) and undetectable SA in urine within 2 months. Three children underwent living donor liver transplantation after treatment with NTBC for 10, 18 and 22 months respectively, despite adequate response to therapy because of financial issues. The explanted livers were all cirrhotic with no dysplasia or malignant transformation. CONCLUSIONS: Focal hepatic lesions are the commonest presentation of HT1 patients and they present at an earlier age than rickets. NTBC is effective but very expensive. Liver transplantation is still considered in HT1 patients.

Study of predictive value of pediatric risk of mortality (PRISM) score in children with end stage liver disease and fulminant hepatic failure.

OBJECTIVE: To evaluate the use of the PRISM score as a predictor of outcome in patients with end stage liver disease (ESLD) and fulminant hepatic failure (FHF). METHODS: The present study included 30 patients with ESLD and FHF, with ages ranging from 2 to 108 months, who were admitted to the Emergency room (ER) and the Pediatric Hepatology Unit at Cairo University Children's Hospital (tertiary referral hospital) over a six-month-period from May through October 2008. Survivors were followed up for 6 months. Two other scores were also calculated, the PELD score and the Child-Pugh score. The outcome was defined as survivors and deceased. RESULTS: Deceased patients as compared with survivors were significantly younger (median age 7 vs. 24 months, p=0.003). A ROC curve was constructed for the PRISM score, the predicted death rate (PDR) and the PELD score in the 30 patients. PRISM score was significantly associated with mortality (p=0.04). The best cut off value was 9.5 (70.6% sensitive and 61% specific). PDR was also significantly associated with mortality (p=0.011). The best cut off value for PDR was 5.95 (70.6% sensitive, 85% specific). On the other hand, the PELD score was not associated with mortality (p=0.202). CONCLUSIONS: PRISM score can be applied with an adequate degree of accuracy for severity assessment and mortality prediction to pediatric patients with ESLD or FHF.

Celiac disease in children and adolescents with autoimmune hepatitis: a single-centre experience.

OBJECTIVES: Celiac disease (CD) is increasingly reported from North Africa, including Egypt. Autoimmune hepatitis (AIH) is considered a high risk factor for CD. We aimed to investigate the frequency of CD diagnosis in AIH. METHODS: We prospectively enrolled 26 AIH patients aged 3.5-21 (mean 9.98 ± 3.94) years and 20 healthy age- and sex-matched controls. Serodiagnosis of CD was based on the most sensitive tests namely immunoglobulin A (IgA) human tissue transglutaminase antibody (IgA-tTGA) by enzyme-linked immunosorbent assay and/or IgA endomysial antibody (IgA-EMA) by immunofluoresence and confirmed the diagnosis by upper gastrointestinal endoscopy and histo-pathological findings in jejunal biopsy. RESULTS: IgA-EMA was positive in four patients (15.4%), whereas IgA-tTGA was positive in two of them (7.7%). Histopathology was confirmatory in three (11.5%) seropositive patients. CONCLUSION: The high prevalence (11.5%) of CD among Egyptian children with AIH indicates that CD exists in high-risk groups in our region and must be carefully looked into.

(99m)Technetium-macroaggregated albumin perfusion lung scan versus contrast enhanced echocardiography in the diagnosis of the hepatopulmonary syndrome in children with chronic liver disease.

BACKGROUND AND AIMS: The hepatopulmonary syndrome (HPS) is a triad of advanced chronic liver disease (CLD), arterial hypoxemia and intrapulmonary arteriovenous shunting in the absence of a primary cardiopulmonary disease. HPS has been more frequently reported in adults than in children with no data on its prevalence in children with CLD. The aim of this study was to detect the prevalence of the HPS in a cohort of children with CLD because of chronic hepatitis B and/or C virus infection, schistosomiasis as well as inborn metabolic errors. We also aimed to evaluate the role of Technetium labeled macroaggregated albumin (Tc--MAA) perfusion lung scan versus contrast enhanced echocardiography (CEE) with intravenous injection of agitated saline in the diagnosis and quantification of intrapulmonary shunts and their relationship to important clinical and laboratory findings. METHODS: Forty Egyptian children (22 males) were investigated. Their ages ranged from 5 to 12 years (with a mean of 9.5 years). Twenty individuals proved to have cirrhosis. RESULTS: Blood gas determination revealed more significant arterial hypoxemia in cirrhotics than noncirrhotics both under room air and after breathing 100% oxygen for 15 mins. CEE showed comparable cardiac measurements in cirrhotic and noncirrhotic patients, and diagnosed intrapulmonary shunts in three hypoxemic cirrhotic patients; whereas Tc--MAAperfusion lung scan diagnosed shunts in seven patients (five of them cirrhotic). The presence of shunts was significantly correlated with the duration of CLD, clinical findings, presence of cirrhosis and porto-systemic collaterals. We calculated for each patient a shunt index (SI) by the formula: (activity outside thorax/activity outside plus inside thorax) 100; and an SI value of 0.278 was found to be a cutoff value for shunt detection. All patients with SI above this value had shunting associated with hypoxemia and all patients with SI below this value had no hypoxemia (specificity 100%). CONCLUSION: Arterial hypoxemia and intrapulmonary shunts were diagnosed in 17.5% of this cohort of children with cirrhotic or noncirrhotic CLD representing the classic HPS. Tc--MAA perfusion lung scan was more sensitive than CEE in detection of intrapulmonary shunts. SI cutoff value of 0.278 was found to be highly specific for shunt detection and we recommend its validation in further studies.

Noninvasive assessment of hepatic fibrosis and necroinflammatory activity in Egyptian children with chronic hepatitis C virus infection using FibroTest and ActiTest.

BACKGROUND: Hepatitis C virus (HCV) is a major cause of chronic hepatitis and hepatic fibrosis. Liver biopsy, because of its limitations and risks, might be considered an imperfect gold standard for assessing the severity of chronic liver diseases. In this study, we aimed to prospectively validate FibroTest (FT) and ActiTest (AT) as noninvasive serum biochemical markers for assessment of the degree of hepatic fibrosis and necroinflammatory activity respectively, in pediatric patients with chronic HCV infection and compare them to liver biopsy. METHODS: Fifty patients, aged 2 to 18 years, with chronic HCV infection were prospectively enrolled. Two assessments were carried out, within 24-h duration, one of a liver biopsy specimen and the other FT and AT measured in serum sample. FINDINGS: A highly significant linear trend and correlation were found between FT-related fibrosis and fibrosis stage by METAVIR scoring on histopathological examination. A highly significant correlation was also found between AT and necroinflammatory histological activity using METAVIR as well. The FT area under the receiver operating characteristic curve (AUROC) is 0.97, SE=0.02 which can diagnose patients with mild stage of fibrosis, thus discriminating them from those with no (or minimal) fibrosis. The AT can successfully discriminate between patients with moderate activity and those with mild activity with AUROC=0.93, SE=0.06. CONCLUSION: FT and AT are potential noninvasive methods for assessment of hepatic fibrosis and necroinflammatory activity in pediatric patients with chronic HCV infection in comparison with liver biopsy.

Outcome of bilateral subthalamic nucleus stimulation in the treatment of Parkinson's disease: correlation with intra-operative multi-unit recordings but not with the type of anaesthesia.

BACKGROUND: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) gained general acceptance in the treatment of Parkinson's disease (PD). OBJECTIVE: To study the clinical outcome and the predicting factors of efficacy of chronic STN stimulation, while DBS electrodes were implanted under local or general anaesthesia with intra-operative electrophysiological guidance based on multi-unit recordings. METHODS: We included a large single-centre cohort of 54 patients with advanced PD (mean age: 59 years; disease duration: 14 years). Clinical evaluation was performed by the Unified Parkinson's Disease Rating Scale (UPDRS) before and 1 year after surgical placement of DBS electrodes. RESULTS: In the on-stimulation and off-medication condition, the UPDRS part III score was reduced by 56% compared to the off-stimulation condition or pre-operative off-drug score. In the on-stimulation and on-medication condition, this score was reduced by 73%. The severity of motor fluctuations and dyskinesia (UPDRS part IV) and the activities of daily living (UPDRS part II) were reduced by 65 and 80%, respectively, in the on-stimulation/on-medication condition compared to the pre-operative baseline. The daily dose of antiparkinsonian treatment was diminished by 72%. Among the various pre- and intra-operative data, the most important predictive factor for clinical efficacy of STN stimulation was the length of hyperactivity along the best track observed in intra-operative multi-unit recordings. Other predictive factors included age, disease duration and pre-operative levodopa responsiveness or baseline off-drug values of the Hoehn and Yahr and UPDRS part III scores. In contrast, the type of anaesthesia (local vs. general) did not significantly influence the clinical outcome. CONCLUSION: The present results are in the average of previously published results, but they have been obtained from a large single-centre cohort of patients with important reductions in the daily dose of antiparkinsonian drugs. This study confirmed the efficacy of the STN-DBS technique and emphasized the value of an original intra-operative electrophysiological approach based on multi-unit and not single-unit quantified recordings. This method allows DBS electrode implantation to be safely performed under general anaesthesia without lessening the rate of efficacy of the procedure.

Outcome of 234 pregnancies in 140 renal transplant recipients from five middle eastern countries.

OBJECTIVE: To study the pregnancy and offspring outcomes in postrenal transplant recipients. METHODS: This is a retrospective case-note review study investigating the outcome of 234 pregnancies in 140 renal transplant recipients from five different Middle Eastern countries. RESULTS: Of the overall pregnancies 74.4% were successful albeit with high prevalences of preterm and Caesarean deliveries (40.8% and 53%, respectively). The mean serum creatinine did not rise significantly during pregnancy in the group as a whole but did so in patients who had serum creatinine of or above 150 micromol/L at the beginning of their pregnancies. The mean birth weight was (2,458 g) with 41.3% of the newborns being of low birth weight (<2,500 g). The prevalences of stillbirths were 7.3% and of spontaneous abortion was 19.3%. Preeclampsia and gestational diabetes were observed in 26.1% and 2% of pregnancies, respectively. CONCLUSIONS: In the presence of good allograft function, the majority of pregnancies in renal transplant recipients have a good outcome but with increased incidence of preeclampsia, reduced gestational age, and low birth weights. Patients with baseline serum creatinine of above 150 micromol/L have an increased risk of allograft dysfunction resulting from the pregnancy.

Skin iron concentration: a simple, highly sensitive method for iron stores evaluation in thalassemia patients.

Iron overload is a potentially fatal complication in thalassemia patients. Accurate assessment of body iron is of utmost importance for these patients. The available methods for iron stores evaluation have limitations. We assessed biochemically the skin iron concentration (SIC) and determined the relation between the hepatic and skin iron level in thalassemia major patients to develop a simple, sensitive, quantitative measure of the body iron stores. Thirty-one cases with thalassemia major were assessed for iron overload. Liver and skin biopsies were performed for the patients and skin biopsies were taken from the 31 controls. The biopsies were subjected to biochemical assay of iron and histologic sections were examined. The SIC of the studied cases was significantly higher than that of the control group with a mean of 2.705 +/- 1.14 and 0.275 +/- 0.13 mg/g dry skin weight, respectively, p < 0.001. There was significant correlation between the SIC and the liver iron concentration (LIC) (r = 0.43, p = 0.01). The amount of liver iron is equivalent to [(3.5 x SIC) + 12.9]. With the use of this equation, we could reliably estimate an LIC value as high as 21.2 mg/g dry liver weight with a standard error of 4.07. Biochemical assay of the skin iron concentration is a reliable quantitative indicator of the body iron stores in patients with thalassemia major.

Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control study.

No identifiable cause can be found in more than half of the cases of portal vein thrombosis (PVT). Our aim was to assess the prevalence of factor V Leiden mutation and other thrombophilic factors as risk factors in the development of PVT in the pediatric age group. From March 2001 to January 2002, 40 children with PVT were enrolled in the study, in addition to 20 age-matched and sex-matched controls. Protein C, protein S, antithrombin III, and activated protein C resistance (APCR) were assayed. Molecular study of factor II and factor V mutations was carried out. Of the patients, 25 had detectable hereditary thrombophilia (62.5%), 12 had factor V Leiden mutation (30%), 11 had protein C deficiency (27.5%), 6 had factor II mutation (15%), 1 had antithrombin III deficiency (2.5%), and none had protein S deficiency. Five children had concurrence of more than one defect. Factor V Leiden mutation is the most common hereditary thrombophilia associated with PVT and the relative risk of factor V Leiden mutation, as a cause of PVT, was six times more than in controls (odds ratio=6). Concurrence of more than one hereditary thrombophilic factor was seen in 12.5% of our patients. Circumstantial risk factors (neonatal sepsis, umbilical sepsis, umbilical catheterization) were not more significantly prevalent among patients with hereditary thrombophilia than among those with no detectable abnormalities in anticoagulation.

Capillaria philippinensis: a cause of fatal diarrhea in one of two infected Egyptian sisters.

Capillaria philippinensis is an emerging infection in Egypt. Reports in children are scarce. We report here two sisters with C. philippinensis infection, aged 8 and 12 years. Their father was a fisherman and they had a habit of picking small pieces of uncooked fish to eat while their mother prepared their meals. They came from El-Menia governorate, which lies in the northern part of Upper Egypt. Most reported cases from Egypt come from this governorate and nearby areas. Both sisters had persistent profuse watery diarrhea of 12 months' duration. Their weights were below the 5th percentile for age. Both were hypoalbuminemic, but only the younger had pedal edema. Both had hypokalemia and hyponatremia. During the course of their illness they were repeatedly admitted to different hospitals and received intravenous fluids, but the correct diagnosis was not reached. Diagnosis was made by stool examination at our hospital when eggs and larvae were detected in stool samples. Although a diagnosis was promptly made, the older sister who suffered from pneumonia and septic shock unfortunately died a few days after admission. The younger sister was treated successfully with albendazole 200 mg twice daily. Diarrhea abated, pedal edema disappeared, and she started to gain weight.