Nitric oxide synthase gene polymorphisms in children with minimal change nephrotic syndrome

Aims:  Nitric oxide (NO) attenuates many functions within the kidney, and all NO synthase (NOS) isoforms are constitutively expressed in the kidney. But the exact role of NO in renal diseases is still debatable. The aim of the present study was to investigate endothelial ( eNOS ), and neuronal ( nNOS ) NOS gene polymorphisms in children with minimal change nephrotic syndrome (MCNS).
Materials and methods:  Eighty-six Turkish children with clinical MCNS, ranging in age from 2 to 10 years, were compared with 114 healthy age- and sex-matched controls. The glu 298 Asp (G/T) polymorphism of the eNOS, and C276T (C/T) polymorphism of nNOS genes were genotyped using polymerase chain reaction.
Results:  The distribution of GG, TG, and TT genotypes for eNOS was 52%, 33% and 15% in MCNS compared with 61%, 26% and 13% in the controls ( P  > 0.05). The distribution of CC, TC, and TT genotypes for nNOS was 16%, 66% and 18% in MCNS compared with 10%, 43% and 47% in the controls. TT genotype distribution of nNOS was found to be lower in patients ( P  = 0.003). The eNOS and nNOS gene polymorphisms were not associated with gender, positive family history, frequency of relapses, or response to steroid.
Conclusions:  The present study is the first to investigate eNOS and nNOS gene polymorphisms in children with MCNS. The nNOS gene polymorphism may be associated with MCNS in children, but further studies in a larger population with different glomerular diseases are needed to confirm the results.     

Long term effect of vagus nerve stimulation in pediatric intractable epilepsy: an extended follow-up

Purpose

Over the past two decades, vagus nerve stimulation (VNS) has become an accepted and viable treatment modality for intractable epilepsy both in children and adults. Earlier studies have demonstrated short-term seizure outcomes, usually for up to 5 years; so far, none have reported an extended outcome in children. We aimed to assess long term seizure outcome in children with intractable epilepsy for more than 5 years.

Methods

We identified patients who had VNS implantation for treatment of intractable epilepsy from March 2000 to March 2015 at our Epilepsy Center and collected data including demographic, age at epilepsy onset and VNS implantation, duration of epilepsy, seizure type, number of antiepilepsy drugs (AEDs), and monthly seizure frequency before VNS implantation and at the last clinic visit. Phone surveys were conducted with patients without recent clinic follow-up.

Results

Fifty-six patients (aged 4–17 at the time of implant) are the subjects of the study. Seizure reduction of >50 % was achieved in 9.8 % (6th month), 24 % (2nd year), 46.4 % (3rd year), and 54 %(5th year), and overall 35 (62.5 %) of the 56 subjects had a greater than 50 % reduction in seizure frequency at the last follow-up. Eleven patients became seizure free. The results, once obtained, were maintained steadily or even improved over time without any loss of efficacy during the follow-up. The only parameter, significantly related with clinical response, was age at seizure onset. The most frequent adverse events were hoarseness, cough, sore throat, and anorexia, experienced by 13 patients. Two patients had local wound infections and lead to the removal of the stimulator. An improvement in alertness, attention, and psychomotor activity, independent of the efficacy of vagal nerve stimulation, was observed in 8 patients.

Conclusion

To our knowledge, this is the first pediatric study evaluating seizure outcome over more than 5 years of follow-up, and demonstrates a favorable seizure outcome of >50 % seizure frequency in 62.5 % of patients and seizure freedom in 11 patients. It is well tolerated over an extended period of time.

     

Importance of acylcarnitine profile analysis for disorders of lipid metabolism in adolescent patients with recurrent rhabdomyolysis: Report of two cases

Metabolic myopathies due to disorders of lipid metabolism are a heterogeneous group of diseases. Newborns may present with hypotonia and convulsions, while progressive proximal muscle weakness or recurrent episodes of muscle weakness accompanied by rhabdomyolysis/myoglobinuria may be seen in older ages. There is little knowledge on detection of disorders of lipid metabolism by acylcarnitine profile (ACP) analysis by tandem mass spectrometry outside the neonatal period particularly in cases with recurrent rhabdomyolysis first presenting in adolescence and adulthood. Two adolescent female cases presented with episodes of rhabdomyolysis and muscle weakness. A 13-year-old patient had five episodes of rhabdomyolysis triggered by infections. Tandem mass spectrometry was normal. A 16-year-old female patient was hospitalized eight times due to recurrent rhabdomyolysis. Increased levels of C14:2, C14:1, and C14 were determined in tandem mass spectrometry. Final diagnoses were carnitine palmitoyltransferase II (CPT II) deficiency and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Increased serum levels of long-chain acylcarnitine can guide to the diagnosis of lipid metabolism disorders. Serum ACP should be performed before enzyme assay and genetic studies.     

Evaluation of inflammatory parameters in patients with cutaneous leishmaniasis

Cutaneous leishmaniasis (CL) is a vector‐borne parasitic disease characterized by various skin lesions that can cause deformities when healed. Our aim in this study is to show the utility of parameters such as neutrophil/lymphocyte ratio (NLR), thrombocyte/lymphocyte ratio (TLR), and mean thrombocyte volume (MTV) as auxiliary laboratory methods in CL patients. About 107 patients who were admitted to our dermatological and venereal diseases outpatient clinic between January 2018 and January 2019 and were diagnosed with CL by microscopic examination and 74 healthy individuals were included in the study. There were no significant differences between the patient and control group in terms of neutrophil counts, leukocyte counts, platelet counts, and NLR values (P values: .271, .053, .263, and .459, respectively). When the TLR and MTV values of patients with CL and those of the healthy controls were compared, it was found that TLR and MTV values were statistically higher in patients with CL (P values of .010 and .044, respectively). Based on these data, NLR was not considered to be a suitable parameter for demonstrating inflammation in CL patients, but TLR and MTV were held to be an appropriate parameter for demonstrating inflammation in CL patients. In addition, we think that the increase in MTV and TLR, can be used as an auxiliary laboratory test in the diagnosis of CL disease.     

Chiari Type I malformation presenting with bilateral hearing loss

Chiari Type I malformations can present with several clinical signs and symptoms. We describe a 44-year-old female patient presenting with bilateral hearing loss with hydrocephalus coexisting with Chiari Type I malformation and a unilateral arachnoid cyst. Thus, sensorineural hearing loss may be caused by hydrocephalus with Chiari Type I malformation. The placement of a ventriculoperitoneal shunt without a posterior fossa decompression is an effective treatment.     

Evaluation of the efficacy of 99mTc-labeled ascorbic acid on common cold–cough drugs in rats

Multiple-drug therapy is common in current clinical practice. Because of this, people have been ready to embrace simplistic approaches to cold treatment, such as vitamin C and zinc. Ascorbic acid (vitamin C) is mostly administrated together with cough–cold drugs. The aim of this study was to investigate the effect of cough–cold drugs on the uptake of ascorbic acid using ^99mTc-ascorbic acid (^99mTc-AA) in male albino Wistar rats. Ascorbic acid was labeled with Tc-99m and the distribution of ^99mTc-AA was investigated. The uptake of ^99mTc-AA was evaluated when administrated alone (group I), with chlorpheniramine maleate (CPR) (group II), with phenylpropanolamine hydrochloride (PPA) (group III), and with acetaminophen (APAP) (group IV). In some organs (apart from kidneys, intestinal system, and stomach) the uptake of ^99mTc-AA was not significantly affected by the administration of ^99mTc with CPR or ^99mTc with APAP at 120 min. On the other hand, there was significant difference in the uptake of ^99mTc-AA between groups I and III. The administration of ^99mTc-AA with PPA in rats caused an increase of the uptake of ^99mTc-AA at 120 min in the investigated organs compared to the administration of ^99mTc-AA alone. The present data show that vitamin C might be more effective for the treatment of common cold when coadministered with PPA compared to with CPR, with APAP, or alone.     

Life-years gained from modern cardiological treatments and population risk factor changes in England and Wales, 1981-2000

OBJECTIVES: We estimated life-years gained from cardiological treatments and cardiovascular risk factor changes in England and Wales between 1981 and 2000. METHODS: We used the IMPACT model to integrate data on the number of coronary heart disease patients, treatment uptake and effectiveness, risk factor trends, and median survival in coronary heart disease patients. RESULTS: Compared with 1981, there were 68230 fewer coronary deaths in 2000. Approximately 925415 life-years were gained among people aged 25-84 years (range: 745 195-1 138 655). Cardiological treatments for patients accounted for approximately 194145 life-years gained (range: 142505-259225), and population risk factor changes accounted for approximately 731270 life-years gained (range; 602695-879430). CONCLUSIONS: Modest reductions in major risk factors led to gains in life-years 4 times higher than did cardiological treatments. Effective policies to promote healthy diets and physical activity might achieve even greater gains.     

The effect of L-tryptophan on hemorrhagic shock induced bacterial translocation

Hemorrhagic shock causes mucosal damage in intestine and it results in translocation of bacteria to distant organs. In this study, effects of various doses of L-Tryptophan on the prevention of bacterial translocation in hemorrhagic shock induced rabbits were investigated. This study was carried out on six groups, each was consisting of 10 rabbits. While any procedure was conducted on the rabbits in group 1 (as a control group), 1 x 10(10)Escherichia coli isolate were administered rabbits in the other groups by gavage. In groups 3, 4, 5, and 6, hemorrhagic shock was induced. After induction of hemorrhagic shock, 10, 50, and 200 mg/kg L-Tryptophan were intragastrically administered to animals in groups 4, 5, and 6, respectively. Blood and terminal ileum samples were taken to detect bacterial translocation by polymerase chain reaction and mucosal damage by histopathological examination at 24 h after hemorrhagic shock. The occurrence of bacterial translocation increased as well when intestinal bacterial intensity was increased (P < 0.05). The most intensive bacterial translocation was formed in group 3 as a result of the additive effect of hemorrhagic shock to bacterial augmentation. It was observed that bacterial translocation was significantly reduced in groups 5 and 6 that are 50 and 200 mg/kg L-Tryptophan were administered (P < 0.01). Histopathological changes on mucosa and submucosa support these results. As a result, we concluded that augmentation of intestinal bacterial intensity induces bacterial translocation, the addition of hemorrhagic shock to bacterial augmentation makes more excessive translocation and mucosal changes have effective roles in these events. L-Tryptophan decreased the intestinal mucosal damage and bacterial translocation induced by hemorrhagic shock, in a dose-dependent manner.     

Complications of intestinal milking: experimental model

BACKGROUND: Intestinal milking is a frequently used method in abdominal surgery for various purposes; although it is frequently used for eliminating distension, moving faeces, bezoar or other foreign objects proximal or distal, there are no experimental or prospective studies in the surgical literature with respect to complications of the method. The purpose of the present study was to investigate complications of the milking process in an experimental model. METHODS: Forty-four outbred, 8-month old Wistar albino male rats with weights ranging between 195 and 225 g were used. Four rats were used for preliminary study. The other 40 rats were divided into two equal groups. In the study group (n = 20), a plastic sphere, 3 mm in diameter was sent to the stomach via oro-gastric tubes. This sphere was then moved into the cecum by milking. In the control group rats (n = 20) the small intestines were manipulated at 1-cm intervals but milking was not performed. RESULTS: In the study group six rats (30%) developed grade 1, 11 rats (55%) developed grade 2, and three rats (15%) developed grade 3 peritoneal adhesion. In the control group, 18 rats (90%) had no adhesions and only two rats (10%) developed grade 1 adhesion (chi(2) = 34, P < 0.0001). In the study group, four rats (20%) had small bowel obstruction, whereas no rats in the control group developed small bowel obstruction (Fisher's P > 0.05). Peritoneal smear culture was positive in 11 rats (55%) in the study group, whereas it was positive in two rats (10%) in the control group (Fisher's P < 0.01). CONCLUSIONS: Intestinal milking is a process that can cause severe peritoneal adhesions and peritoneal contamination, which may lead to small bowel obstruction. Avoiding milking to the extent possible in eliminating distension intraluminal material that may cause obstruction, and preferring alternative methods is important for reducing postoperative morbidity.