Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients' families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors' own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD.

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With Inflammatory Bowel Disease: A Multicenter Study.

BACKGROUND: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. METHODS: Children with IBD (334 ulcerative colitis (UC), 224 Crohn's disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. RESULTS: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/ heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P = .031, P = .045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P = .007). CONCLUSION: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

Prevalence of Helicobacter pylori in children in eastern Turkey and molecular typing of isolates.

The objectives of the present study were to determine Helicobacter pylori via culture, polymerase chain reaction and histopathological diagnosis in 101 children ranging in age from 4 to 18 years, to identify the association among restriction fragment length polymorphism types and clinical disease and to investigate the relationships among different isolates of H. pylori in different age groups. We observed a high prevalence of H. pylori infections in children between the ages of 13 and 18 (75.8%), while children aged 4 to 6 years had the lowest prevalence of infection (40%). H. pylori was detected in 30.7% (31 of 101), 66.3% (67 of 101) and 63.2% (60 of 95) of children as determined by culture methods, PCR and histological examination, respectively. H. pylori isolates with RFLP types I and III were the most common among children with antral nodularity, whereas RFLP types II and IV were the least detected types. Interestingly, all isolates from peptic ulcer patients were type III. Although our results show a high prevalence of H. pylori infections in the pediatric population in eastern Turkey, no association was identified between H. pylori infection with antral nodularity and recurring abdominal pain. In addition, we found low genetic variation among H. pylori isolates from children and no association between RFLP types and antral nodularity (p > 0.05). Additionally, we found that H. pylori isolates with specific RFLP types were predominant in different age groups.

Prevalence of Helicobacter pylori in children in eastern Turkey and molecular typing of isolates

The objectives of the present study were to determine Helicobacter pylori via culture, polymerase chain reaction and histopathological diagnosis in 101 children ranging in age from 4 to 18 years, to identify the association among restriction fragment length polymorphism types and clinical disease and to investigate the relationships among different isolates of H. pylori in different age groups. We observed a high prevalence of H. pylori infections in children between the ages of 13 and 18 (75.8%), while children aged 4 to 6 years had the lowest prevalence of infection (40%). H. pylori was detected in 30.7% (31 of 101), 66.3% (67 of 101) and 63.2% (60 of 95) of children as determined by culture methods, PCR and histological examination, respectively. H. pylori isolates with RFLP types I and III were the most common among children with antral nodularity, whereas RFLP types II and IV were the least detected types. Interestingly, all isolates from peptic ulcer patients were type III. Although our results show a high prevalence of H. pylori infections in the pediatric population in eastern Turkey, no association was identified between H. pylori infection with antral nodularity and recurring abdominal pain. In addition, we found low genetic variation among H. pylori isolates from children and no association between RFLP types and antral nodularity (p > 0.05). Additionally, we found that H. pylori isolates with specific RFLP types were predominant in different age groups.

Gastrointestinal system lesions in children due to the ingestion of alkali and acid corrosive substances.

BACKGROUND/AIM: TO examine esophageal and gastric lesions in children due to the ingestion of alkali and acid corrosive substances and to emphasize all related complications. MATERIALS AND METHODS: The reports of 103 children who ingested or were suspected to have ingested corrosive substances and who then underwent upper gastrointestinal endoscopic inspections were evaluated retrospectively. RESULTS: Of the patients, the mean age was 41 ± 3.6 months, and 57.3% were male. Vomiting was the most common symptom (44.7%). Eighteen different commercial products were defined as corrosive substances: 59.2% of them were alkali, 39.8% were acids, and 1% had a neutral pH. These corrosive agents most frequently contained sodium hydroxide, followed by hydrochloric acid, sodium hypochlorite, and sulfuric acid. Endoscopic inspections were abnormal in 68% of the cases. Esophageal lesions were observed in 56.3% of the patients, while gastric lesions were observed in 35%. During the follow-up period, esophageal strictures developed in 4.9% of patients, while gastric outlet obstructions developed in 1%. CONCLUSION: Of the patients, the mean age was 41 ± 3.6 months, and 57.3% were male. Vomiting was the most common symptom (44.7%). Eighteen different commercial products were defined as corrosive substances: 59.2% of them were alkali, 39.8% were acids, and 1% had a neutral pH. These corrosive agents most frequently contained sodium hydroxide, followed by hydrochloric acid, sodium hypochlorite, and sulfuric acid. Endoscopic inspections were abnormal in 68% of the cases. Esophageal lesions were observed in 56.3% of the patients, while gastric lesions were observed in 35%. During the follow-up period, esophageal strictures developed in 4.9% of patients, while gastric outlet obstructions developed in 1%.

Is cervical inlet patch important clinical problem?

AIM: In this study we aim to determine the frequency of Inlet Patch (IP) and its association to clinical symptoms and draw attention to be aware of this heterotopic gastric mucosa. METHODS: This study was a prospective case series that IP was detected in the upper gastrointestinal endoscopy. Patients with laringopharyngeal reflux symptoms underwent endoscopy between March 2009 and July 2012 in two different institutions. All the biopsies were obtained from if there is the IP lesion and antral or/and gastric mucosa. The data was prospectively evaluated. The prevalence was compared with those of patients that did not determine IP in the study period. RESULTS: 3907 upper gastrointestinal system endoscopy was performed while 123 patients consist of 51 male and 72 female was determined as IP. The prevalence of IP in patiens who underwent upper gastrointestinal endoscopy was 3.14% in our study. The majority of symptoms of those who had IP were laringopharyngeal reflux symptoms. Heterotopic gastric mucosa was fixed in 114 cases while 28 chronic inflammation, 9 esophagitis, 5 intestinal metaplasia, 4 glicogenic acanthosis were obtained as additional findings in pathological examinations. CONCLUSION: Heterotopic gastric mucosa in the proximal esophagus is a frequent finding if the endoscopist is aware of this entity. The importance of IP is the increasing number of cases of neoplastic transformation. Symptomatic patients should be treated and should be considered of the complications of heterotopic gastric mucosa.

Enhanced postoperative recovery pathways in emergency surgery: a randomised controlled clinical trial.

BACKGROUND: Enhanced recovery pathways are now widely used in elective surgical procedures. The feasibility of enhanced postoperative recovery pathways in emergency surgery for perforated peptic ulcer disease was investigated in this randomized controlled clinical trial. METHODS: Patients with perforated peptic ulcer disease who underwent laparoscopic repair were randomized into 2 groups. Group 1 patients were managed with standard postoperative care and group 2 patients with enhanced postoperative recovery pathways. The primary endpoints were the length of hospital stay and morbidity and mortality. RESULTS: Forty-seven patients were included in the study. There were 26 patients in group 1 and 21 in group 2. There were no significant differences in the morbidity and mortality rates, whereas the length of hospital stay was significantly shorter in group 2. CONCLUSIONS: The application of enhanced postoperative recovery pathways in selected patients with perforated peptic ulcer disease who undergo laparoscopic Graham patch repair seems feasible.

Protective effects of L-carnitine, N-acetylcysteine and genistein in an experimental model of liver fibrosis.

AIM: Liver fibrosis is a reversible wound-healing response that occurs following liver injury. In this study, we aimed to investigate the possible protective effects of L-carnitine, N-acetylcysteine and genistein in liver fibrosis induced by carbon tetrachloride (CCl4). In addition, the effects of these agents were compared in the same study. METHODS: In this study, rats were randomly allocated into 8 groups, consisting of 10 rats each, as follows: a control group, CCl4, L-carnitine, N-acetylcysteine, genistein, CCl4 and L-carnitine, CCl4 and N-acetylcysteine, and CCl4 and genistein. At the end of 6 weeks, blood and liver tissue specimens were collected. Alanine aminotransferase (ALT); aspartate aminotransferase (AST); complete blood count, tumor necrosis factor-α (TNF-α); platelet-derived growth factor-BB (PDGF-BB); interleukin-6 (IL-6); liver glutathione level; oxidant/antioxidant status; scores of hepatic steatosis, necrosis, inflammation, and fibrosis; and the expression of α-smooth muscle actin were studied. RESULTS: Although the ALT and AST values in the group administered CCl4 were significantly higher than in all the other groups (P<0.05), there was no significant difference between the control group and the groups administered CCl4 combined with L-carnitine, N-acetylcysteine and genistein (P>0.05). There were significant differences in the levels of TNF-α, PDGF-BB and IL-6 (P<0.05) between the CCl4 group and the groups with L-carnitine, N-acetylcysteine and genistein added to CCl4. N-acetylcysteine and genistein had positive effects on the oxidant/antioxidant status and on liver necrosis and fibrosis scores. CONCLUSIONS: In our study, L-carnitine, N-acetylcysteine and genistein showed significant protective effects in liver fibrosis induced by CCl4.

Prevalence of Helicobacter pylori virulence genotypes among children in Eastern Turkey.

AIM: To identify the virulence genotypes of Helicobacter pylori (H. pylori) if present in children in Eastern Turkey and if those genotypes are mostly associated with severe clinical presentations. METHODS: A total of 49 H. pylori positive Turkish children (42 with antral nodularity and 7 with peptic ulcer) who underwent upper gastrointestinal endoscopy with abdominal symptoms during the period from March 2011 to September 2012 were enrolled in this study. Antral nodularity was diagnosed endoscopically by two of the authors. We determined for the presence of cagA, vacA, cagE, iceA and babA2 genotypes of H. pylori isolates in DNA obtained directly from frozen gastric biopsy samples by polymerase chain reaction test using specific primers. RESULTS: Of the 49 H. pylori isolates studied, 61.2%, 91.8%, 22.4%, 28.6%, 57.1% and 40.8% were positive for the cagA, vacA s1, cagE, iceA1, iceA2 and babA2 genes, respectively. We showed that the most common vacA subtype was s1a (79.6%). However, the s2 gene was found less frequently with an isolation rate of 8.2% of the H. pylori isolates. The genotypes iceA2 and vacA s1m2 were the most frequently found types in children with antral nodularity. In addition, the genotypes iceA1, babA2 and vacA s1m1 were found in similar ratios in all the H. pylori isolates obtained from children with peptic ulcer. The genotypes vacA s2m1 and s1c were not observed in any of isolates studied. CONCLUSION: This study showed that vacA s1m2, cagA and iceA2 were the most common genotypes, and no association between antral nodularity and genotypes was observed.

Prevalence of celiac disease among first-degree relatives of patients with celiac disease.

OBJECTIVES: Celiac disease, an autoimmune enteropathy that affects the proximal small intestine, is characteristically seen in people who have a genetic susceptibility to gluten sensitivity. Celiac patients' first-degree relatives are more at risk of acquiring the disease. The objective of the present study was consequently to determine the prevalence of celiac disease in a group of first-degree relatives of our patients with celiac disease. METHODS: First-degree relatives of 195 patients with celiac disease attending a gastroenterology unit underwent serologic screening. Antitissue transglutaminase (anti-tTG) immunoglobulin A (IgA) and total serum IgA tests were used for first-level screening. Duodenal biopsy was recommended to subjects showing positive results to anti-tTG IgA testing. Biopsy samples were obtained by endoscopy, and biopsy specimens were evaluated and classified according to Marsh classification. RESULTS: Positive anti-tTG IgA was found in 46 first-degree relatives (9.5%), whereas serum IgA levels were normal. Of 46 serology-positive relatives, 34 agreed to the endoscopy procedure. Histological changes characteristic of celiac disease were found in 23 subjects. The prevalence of celiac disease among the first-degree relatives was found to be at least 4.8%. Of 34 subjects that underwent biopsy, 11 were evaluated as Marsh 0, 5 as Marsh 1, 4 as Marsh 2, 12 as Marsh 3, and 2 as Marsh 4. Of the biopsy-positive subjects, 3 were mothers, 1 was a father, and 19 were siblings. CONCLUSIONS: The present study identified 23 undiagnosed cases of celiac disease among 484 first-degree relatives of 195 patients with celiac disease, confirming the high prevalence (4.8%) of the disease in this specific group. It is suggested that an extensive screening policy be mandatory for these subjects.

[Case report: primary splenic hydatidosis]. / Olgu Sunumu: primer dalak kist hidatigi.

Hydatidosis, caused by Echinococcus granulosus is still an important problem in endemic areas as Middle and Eastern Europe including Turkey, South America, Avustralia, New Zealand and South Africa. Hydatid disease affects more common liver and lung. Isolated splenic hydatidoses are quite rare in the medical literature. Here we report a case of isolated primary splenic hydatid cyst which is treated by splenectomy.

Serum IL-1beta, IL-6, IL-8, and TNF-alpha levels in early diagnosis and management of neonatal sepsis.

AIM: To determine serum IL-1beta, IL-6, IL-8, and TNF-alpha levels in neonatal sepsis at the time of diagnosis and after therapy, and to show the meaningful on the follow up. METHODS: This prospective study was performed on newborns who were hospitalized for neonatal sepsis and who were classified as culture-proven sepsis (n=12), as culture-negative sepsis (n=21), and as healthy newborns (n=17). RESULTS: At the time of diagnosis, serum IL-1beta, IL-6, IL-8, and TNF-alpha levels of culture-proven sepsis were significantly higher than those of the control groups (P<.05). At the time of diagnosis, IL-1beta, IL-6, IL-8, and TNF-alpha levels of culture-proven sepsis and culture-negative sepsis were significantly higher than levels at the seventh day after antibiotic treatment. CONCLUSION: Serum IL-1beta, IL-6, IL-8, and TNF-alpha are mediators of inflammation and can be used at the diagnosis and at the evaluation of the therapeutic efficiency in neonatal sepsis.

The levels of Ghrelin, TNF-alpha, and IL-6 in children with cyanotic and acyanotic congenital heart disease.

BACKGROUND/AIM: Ghrelin has effects on nutrient intake and growth. The cause of growth retardation in congenital heart disease is multifactorial. The aim of the present study is to investigate the ghrelin in congenital heart disease and the association of ghrelin with TNF-alpha and IL-6. Materials and methods. We measured serum ghrelin, TNF-alpha, and IL-6 levels using specific immunoassay in 68 patients (47 acyanotic, 21 cyanotic with congenital heart disease) and in 25 control subjects. Results. In comparison to controls, serum ghrelin, TNF-alpha levels were significantly higher in acyanotic patients and cyanotic patients with congenital heart disease (P<.0001). In acyanotic and cyanotic patients with congenital heart disease, there was a positive correlation between ghrelin and TNF-alpha (r=.485, P<.05 and r=.573, P<.01, resp.). CONCLUSION: Serum ghrelin levels is elevated in acyanotic and cyanotic patients with congenital heart disease. Increased ghrelin levels represents malnutrition and growth retardation in these patients. The relation of ghrelin with cytokines may be explained by the possible effect of chronic congestive heart failure and chronic shunt hypoxemia.

Caustic gastroesophageal lesions in childhood: an analysis of 473 cases.

Ingested corrosive agents produce oropharyngeal and gastroesophageal injuries ranging from minor burns to severe necrosis, depending on the agent amount, concentration, and duration of exposure. The aim of this study was to present our patients with corrosive ingestion retrospectively. Four hundred seventy-three children younger than 16 years of age (mean age, 3.7+/-0.1 years) who were admitted to our hospital for suspected corrosive ingestion between the years 1995 and 2003 were studied. Two hundred eighty-six (60.5%) of 473 patients were males. Household bleaches (36.6%) and oven cleaners (23%) were the most frequently encountered corrosive agents. During endoscopy, lesions in the esophagus were recorded in 379 children. Eighty-one of the cases had gastric lesions. During the follow-up, esophageal stricture, esophageal perforation, and gastric outlet obstruction (GOO) developed in 11 cases, 1 case, and 2 cases, respectively. Caustic ingestion of alkali substances such as oven cleaner seem to cause more severe injuries. Early admission to the hospital with clinical and endoscopic evaluation and early surgery when required may reduce morbidity and mortality.

Serum IL-1beta, IL-2, and IL-6 in insulin-dependent diabetic children.

Insulin-dependent diabetes mellitus (IDDM) is a chronic disease characterized by T-cell-dependent autoimmune destruction of the insulin-producing beta cells in the pancreatic islets of Langerhans, resulting in an absolute lack of insulin. T cells are activated in response to islet-dominant autoantigens, the result being the development of IDDM. Insulin is one of the islet autoantigens responsible for the activation of T-lymphocyte functions, inflammatory cytokine production, and development of IDDM. The aim of this study was to investigate serum concentrations of interleukin (IL)-1beta, IL-2, IL-6, and tumor necrosis factor (TNF)-alpha in children IDDM. The study population consisted of 27 children with IDDM and 25 healthy controls. Children with IDDM were divided into three subgroups: (1) previously diagnosed patients (long standing IDDM) (n : 15), (2) newly diagnosed patients with diabetic ketoacidosis (before treatment) (n : 12), and (3) newly diagnosed patients with diabetic ketoacidosis (after treatment for two weeks) (n : 12). In all stages of diabetes higher levels of IL-1beta and TNF-alpha and lower levels of IL-2 and IL-6 were detected. Our data about elevated serum IL-1beta, TNF-alpha and decreased IL-2, IL-6 levels in newly diagnosed IDDM patients in comparison with longer standing cases supports an activation of systemic inflammatory process during early phases of IDDM which may be indicative of an ongoing beta-cell destruction. Persistence of significant difference between the cases with IDDM monitored for a long time and controls in terms of IL-1beta, IL-2, IL-6, and TNF-alpha supports continuous activation during the late stages of diabetes.

Nutritional status of patients hospitalized in pediatric clinic.

BACKGROUND/AIMS: The aim of this study was to evaluate the nutritional status of children at the moment of their hospitalization and to investigate whether there is a relation between the diagnosis and nutritional status. METHODS: Patients hospitalized in the Children's Clinic of Cerrahpasa Medical Faculty (excluding emergency, newborn intensive care and newborn special care units) between December 2003 and August 2004 were included in the study. All patients' height, weight, weight for height head circumference, arm circumference, triceps skin-fold thickness, and Z results of the height and weight were measured and, in accordance with the anthropometric measurements at the moment of hospitalization, each patient's nutritional status was evaluated. The average of the values was compared to diagnosis. RESULTS: 223 (42.2%) of a total of 528 patients were female. Patients' ages varied from one month to 23 years (5.8+/-5.3). The evaluated average height and weight Z scores of the patients were -0.6+/-1.9 and -0.7+/-1.5. Evaluation of height for age showed that in 27% of cases there was chronic malnutrition. Evaluation of weight for age and weight for height showed that in 52.4% and 40.9% of the cases, respectively, there was acute malnutrition. In 45.7% of the cases the body mass index was below -2 standard deviations. The evaluation of patients' diagnoses revealed 83 cases (15.7%) diagnosed as acute or chronic respiratory system disease. Malnutrition was most common among patients suffering from diseases from the following groups: chronic kidney insufficiency, genetic diseases, immune insufficiency and cystic fibrosis. CONCLUSION: Malnutrition among hospitalized children and especially those with chronic diseases is worth attention. Evaluation of the nutritional status and nutritional support are elements of the diagnostic and treatment process. In particular, closer observation and nutritional support are required in the cases of patients diagnosed with chronic kidney insufficiency, immune insufficiency, neurological diseases, and cystic fibrosis.

Levels of cytokines (IL-1beta, IL-2, IL-6, IL-8, TNF-alpha) and trace elements (Zn, Cu) in breast milk from mothers of preterm and term infants.

It has been well documented that human milk contains several immunomodulator components which are important during infant period when the newborn's immune system is still under development. In this study, we aim at examining levels of cytokines, zinc (Zn), and copper (Cu) in milk from mothers of premature and mature infants, and comparing changes during lactation periods consequently. Milk was collected from total of 40 mothers (group M: mothers of mature infants, n = 20; group PM: mothers of premature infants, n = 20) from four lactation stages: colostrum (0-7 days), transitional (7-14 days), mature milk (21 days), and mature milk (2nd month). Levels of cytokines (interleukin [IL]-lbeta, IL-2, IL-6, IL-8, tumor necrosis factor-alpha [TNF-alpha]) were determined by chemiluminesence method, whereas atomic absorption spectrophotometer was used for the determination of Zn and Cu levels. Cytokine levels were determined to be high in colostrum and transient milk from mothers of full-term infants, whereas their levels were reduced drastically in the 21st day and the 2nd month milk (P < .01, P < .001). Similar trends were observed in milk from mothers of premature infants, but cytokine levels were significantly lower in colostrum compared to colostrum from mothers of mature infants (P < .01). The differences in cytokine levels were continuous in transient milk (P < .05) and mature milk (21 days) (P < .05), whereas there was no statistically significant differences between milk from both groups of mothers in the 2nd month (P > .05). Zn levels in milk from mothers of premature infants were significantly lower compared to the ones from mothers of mature infants (P < .01) and these differences continued through the 2nd month. Although Cu levels were lower in milk from mothers of premature infants, there was no statistically significant difference except colostrum (P > .05). Our results clearly demonstrate that the level of immunomodulating agents such as cytokines and trace elements in milk from mothers of premature infants is less than the level of the same agents in milk from mothers of full-term infants. Although there are commercially available products for infant feeding, human milk is still the best natural nutrient for newborns. Therefore, when premature infants are breastfed, necessary precautions such as supplemantary diets must be considered for possible infections and risks related with immune system deficiency.

Plasma selenium status in children with iron deficiency anemia.

Iron and selenium are trace elements necessary for the maintenance of life and health. Iron deficiency is the most common nutritional deficiency among children in the world. The purpose of this study was to evaluate plasma selenium concentrations in children with iron deficiency anemia (IDA). Plasma selenium levels were investigated in 56 children with IDA and in 48 control subjects aged 1-8 years. A spectrofluorometric method was used for the determination. Plasma selenium concentrations in children with IDA (33.6+/-8.2 microg/l) were significantly lower than in the control group (56.0+/-17.0 microg/l) (p<0.001). However, there was no relation between plasma selenium, iron and hemoglobin concentrations.

Severe protein S deficiency associated with heterozygous factor V Leiden mutation in a child with purpura fulminans.

Homozygous or compound heterozygous protein S (PS) deficiency is very rare in the population; only 8 patients from 6 different families have been reported. On the other hand, the factor V Leiden (FVL) mutation is a frequent cause of inherited prothrombotic disorder. Here the authors report a case of patient with severe PS deficiency associated with the FVL mutation who has had purpura fulminans since the age of 10 days. She is the first child of a consanguineous marriage. Her father is double heterozygous for PS deficiency and FVL mutation and has recurrent thrombosis. This is the first case of severe PS deficiency combined with the FVL mutation. This suggests the need for complete evaluation of patients with purpura fulminans for thrombotic factors.

Reversal of iron deficiency anemia-induced peripheral neuropathy by iron treatment in children with iron deficiency anemia.

The effects of iron deficiency anemia (IDA) on nerve conduction and efficiency of iron therapy were investigated by peripheral nerve-electrophysiological measurements. Eighteen children (10 boys, eight girls; mean age 31 +/- 1.3 months) with IDA and 12 healthy children (six boys, six girls; mean age 29 +/- 1.3 months) were enrolled into the study. Nerve conduction velocity was measured in the median and posterior tibial nerve. After nerve conduction values were determined in the patients and controls, 6 mg/kg/24 h ferrous sulphate was given orally to the patients for 3 months and nerve conduction velocity tests were performed again. Median/motor and sensory nerve conduction velocity and tibial/motor nerve distal-amplitute values of children with IDA were lower than for the control group (p < 0.05, p < 0.01 and p < 0.001 respectively). With iron supplementation these values increased to the normal levels and even higher than control levels for some parameters. In correlation studies between whole blood parameters and nerve conduction velocity results, there was a correlation between median/sensory nerve conduction velocity values and serum iron levels. Additionally there was a correlation between some nerve conduction velocity values and age. In conclusion, the evidence from this preliminary study suggests that peripheral neuropathy may develop in children with IDA. Peripheral neuropathy symptoms in these patients may be improved by iron therapy.