Interleukin-6 gene polymorphism in febrile seizures

Febrile seizures comprise a common type of pediatric convulsion. Inflammation and genetics may be involved in their pathogenesis. Regarding the role of cytokines (especially interleukin-6) in febrile responses, we performed a case control study of interleukin-6 gene (−174, −572, and −597) single-nucleotide polymorphisms to learn if correlations existed between these particular polymorphisms and febrile seizures. We isolated the genomic DNA of 92 children with febrile seizures and 98 healthy control subjects. We genotyped individuals for their polymorphisms, using polymerase chain reaction-restriction fragment length polymorphism. In our study, the frequencies of −174 G alleles and of the −174 and −572 GG genotypes were observed to be significantly higher in patients than in control subjects. The −174 GG genotype frequency was significantly higher in children with a family history of febrile seizures.     

Inhaled iloprost as a long-term additional therapy to oral sildenafil in severe idiopathic pulmonary arterial hypertension

Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and devastating disease which, if untreated, progresses rapidly and leads to right heart failure and death. The course of the disease has been altered by advances in medical therapies. However, the effects of long-term alternative therapies and responses to each treatment protocols are not definite. We want to define an IPAH case, which had long-term temporary responses to the conventional therapy plus calcium channel blockers treatment and moreover compared the long-term clinical and physiologic effects of oral sildenafil mono therapy and additional inhaled iloprost therapy. Patients with IPAH may have response to a short-term vasodilatation therapy but they have to follow for the long-term results and may be of benefit from combination treatments.     

Nephroprotective effect of Semecarpus anacardium on diabetic nephropathy in type 2 diabetic rats

Semecarpus anacardium Linn. (Anacardiaceae), commonly known as marking nut is found in sub-Himalayan regions and also in central parts of India. This study is aimed at evaluating the protective effect of the drug S. anacardium nut milk extract (SA) on diabetes-induced damage in kidney of type 2 diabetic rats. Diabetic nephropathy was induced in rats by feeding them with a high fat diet for 5 weeks followed by i.p. injection of 35 mg/kg body weight (b.wt.) and left for 8 weeks. Diabetic nephropathy-induced animals were treated with SA at a dosage of 300 mg/kg b.wt. dissolved in olive oil for 8 weeks. Treatment with the drug SA decreased the levels of urea, uric acid and creatinine. The drug SA significantly decreased the levels of marker enzymes and lipid peroxides while increasing the levels of antioxidant enzymes. The histopathological alterations in kidney tissues were also found to be normalized after treatment with SA nut milk extract. No significant alterations were observed in drug alone-treated group of rats. The present study suggests that SA demonstrated antioxidant activity in diabetic nephropathy rats. The potential nephroprotective effect is plausibly due to its underlying antioxidant role.     

Oxidized LDL accumulation in experimental renal ischemia reperfusion injury model

BACKGROUND/AIMS: The aim of this study was to identify oxidative damage of kidney during ischemia reperfusion injury (IRI) by evaluating changes in lipid peroxidation markers in tissue and blood by an experimental model. Oxidized LDL (ox-LDL) was used as an oxidative stress biomarker, whereas paraoxonase (PON-1) activity was used as an antioxidative biomarker. METHODS: Sixty-three male Wistar rats were randomly assigned into three groups: renal IRI, sham, and control. In the renal IRI group, the right kidney was removed and the artery and vein of the left kidney were clamped for 90 minutes. The presence of ox-LDL in the kidney tissue sections was determined by using an immunofluorescent staining method. RESULTS: The plasma ox-LDL levels did not increase significantly at the 24th hour following IRI, made a peak at the 48th hour, and declined at the 72nd hour. Accumulation of ox-LDL was detected in the kidney tissue on the 24th, 48th, and 72nd hours of the renal IRI. Serum PON-1 levels have peaked on the 24th hour and then declined. CONCLUSION: This study demonstrates the accumulation of ox-LDL molecules in the renal tissues of the IRI model. Future strategies aimed to reduce the lipid peroxidation during the initial hours of renal IRI may be useful to prevent complications of ischemia.     

Netherton Syndrome Associated with Growth Hormone Deficiency

Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal‐type‐related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy.     

Cardiac autonomic function evaluation in pediatric and adult patients with congenital myasthenic syndromes

Cardiac autonomic dysfunction has been examined in myasthenia gravis but not in congenital myasthenic syndromes (CMS). We aimed to evaluate cardiac autonomic functions in genetically defined CMS. Patients diagnosed with and under treatment for CMS were reviewed for 24-hour cardiac rhythm monitoring. Heart rate variability (HRV) measures were defined as: SDNN, mean of the standard deviations for all R-R intervals; SDNNi, standard deviation of all R-R intervals in successive five-minute epochs; RMSSD, square root of the mean of squared differences between successive R-R intervals. Ten patients with mutations in the epsilon subunit of the acetylcholine receptor (AChRε) and five patients with mutations in the collagen-like tail of asymmetric acetylcholinesterase (ColQ) were included. Median age at evaluation was 17 (2.5–46) years. In the AChRε group, RMSSD values; and in the ColQ group, SDNN, SDNNi and RMSSD values were significantly lower than those of healthy subjects. This first extensive report examining HRV in CMS showed alterations in patients with ColQ mutations and, to a lesser extent, in the group with AChRε mutations. This might indicate an increased risk of cardiac arrhythmias. We suggest cardiological follow-up in CMS, and consideration of any potential cardiovascular effects of therapeutic agents used in management.     

Brucellosis: a rare cause of febrile neutropenia in acute myeloblastic leukemia

Brucellosis is a zoonotic disease and endemically seen in the Middle East, Eastern Europe and continental America. Febrile neutropenia related to Brucellosis has been reported only in a few cases. Brucella was cultured from the bone morrow of a 42-year-old woman who was admitted to hospital with symptoms of fever and fatigue and later diagnosed as acute myeloblastic leukemia (AML). The patient was treated for both AML and Brucellosis without any problems and discharged from the hospital after scheduling her follow-up visits. Brucellosis might be considered in the etiology of febrile neutropenia in endemic regions and must be treated effectively to prevent possible morbidity and mortality during or after chemotherapy.     

Biochemical and histopathologic effects of omeprazole and vitamin E in rats with corrosive esophageal burns

The aim of the study reported here was to evaluate the biochemical and histopathologic effects of omeprazole and vitamin E in rats with corrosive esophageal burns. A total of 144 Wistar Albino rats were divided into 12 experimental groups (12 rats per group) and used in an animal study. Group I rats were given a laparotomy and received no treatment (control group), while groups II, III and IV received a laparotomy and were treated with omeprazole, vitamin E or omeprazole/vitamin E, respectively. Groups V-XII rats received a laparotomy and were given a caustic acid burn through acid instillation (1 ml caustic 10% sulphuric acid; groups V–VIII) or alkali instillation (corrosive 10% sodium hydroxide solution; groups IX–XII) into the isolated esophageal segment via a 22-Fr cannula for 2 min. Each group of rats subjected to caustic burn received either no treatment (groups V and IX) or were treated with omeprazole, vitamin E or omeprazole/vitamin E, respectively (remaining six groups). Omeprazole (20 mg/kg) or vitamin E (10 mg/kg) was administered to the rats intraperitoneally or intramuscularly, respectively. Seventy-two rats (50% of each group, n = 6) were killed immediately after the experimental treatment (acute phase). The remaining rats were kept under standard conditions for 21 days (late phase) before being killed. The distal esophageal segments were harvested from all animal and used in histopathologic and biochemical analyses. Compared to the controls (no caustic burn), rats receiving only the acid or alkali installation (and no subsequent treatment) had the highest mean malondialdehyde (16.9 and 15.8 μmol MDA/g protein, respectively) and hydroxyproline (5.9 and 5.7; mg HP/g wet tissue) levels of all groups. In comparison, rats treated with acid + omeprazole and/or vitamin E had relatively lower MDA (12.9 and 11.6 μmol/g protein, respectively) and HP levels (4.3 and 4.08 mg/g wet tissue, respectively). Similarly, rats treated with alkali + omeprazole and/or vitamin E had low levels of MDA (13.9 and 11.7 μmol/g protein, respectively) and HP (4.3 and 4.4 mg/g wet tissue, respectively). The glutathione (GSH) levels of acid-only- or alkali-only-treated rats were lower than those found in omeprazole- and/or vitamin E-treated rats. Based on these results, we conclude that vitamin E and omeprazole affect the biochemical and histopathologic parameters in rats receiving corrosive esophageal burn from acid and alkali. The effect of both substances was slightly greater in the acid-treated groups.