The MEFV mutations and their clinical correlations in children with familial Mediterranean fever in southeast Turkey

The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.     

The appearance of free-air in the abdomen with related pneumatosis cystoides intestinalis: Three case reports and review of the literature

INTRODUCTION

Pneumatosis sistoides intestinalis (PSI) is a rare condition with unknown origin, defined as the appearance of gas-filled cysts in the intestinal wall. It usually occurs due to respiratory infections, tumor or collagen disease, traumas, immunosuppression.

PRESENTATION OF CASE

Three patients with PSI were examined that followed up and treated in our clinic. The first patient was hospitalized for emergency treatment of previously diagnosed free-air under the diaphragm. He had a defense on physical examination and free-air was detected in X-ray and abdomen CT. We decided to laparatomy and peroperatively, stenotic pylorus with an abnormally increased stomach and gas-filled cysts were seen in the terminal ileum. Antrectomy and gastrojejunostomy with partial ileum and cecum resection and end ileostomy were performed. The second patient underwent laparatomy because of intraperitoneal free-air and acute abdomen. Partial ileum and cecum resection and ileotransversostomy were performed. The third patient with intraperitoneal free-air was treated with antibiotics, oxygen treatment and bowel rest.

DISCUSSION

PSI is usually asymptomatic. Plain radiographs, USG, CT, upper gastrointestinal endoscopy, colonoscopy can use for diagnosis. Treatment of PSI depends on the underlying cause; include elemental diet, antibiotics, steroids, hyperbaric oxygen therapy and surgery.

CONCLUSION

In patients with asymptomatic and symptomatic PSI are different treat. Symptomatic PSI can be safely treated antrectomy and gastrojejunostomy with partial ileum and cecum resection.     

Attachment and family functioning in patients with Internet addiction

Objective

Although the Internet is used effectively in many areas of life, some users experience problems because of over-use due to a lack of control. The diagnostic criteria for Internet addiction include disruptions in family relationships, but adequate data on the attachment styles and family functioning associated with this condition are limited. This study aimed to investigate the attachment styles and family functioning of patients with Internet addiction.

Method

The sample included 30 male patients consecutively admitted to the Bak?rköy Mental Health and Research Hospital Internet Addiction Outpatient Clinic, who were diagnosed in clinical interviews as having Internet addiction according to Young’s (1998) criteria. Thirty healthy males who were matched with the experimental group in terms of sociodemographic characteristics were included as control subjects. Both groups provided sociodemographic data and completed the Beck Depression Inventory (BDI), the Experiences in Close Relationships Questionnaire-r (ECR-r) and the Family Assessment Device (FAD).

Results

Patients with Internet addiction had higher BDI scores (P< .001) and higher attachment anxiety subscores on ECR-r (P< .001) compared with those in the control group. Patients with Internet addiction evaluated their family functioning as more negative and reported problems in every aspect addressed by the FAD. Scores on the FAD behaviour control, affective responsiveness, and problem-solving subscales (P< .05) and on the FAD communication, roles, and general functioning subscales (P< .001) were significantly higher in the patient compared with the control group.

Conclusion

Patients with Internet addiction have more anxious attachment styles as well as prominent disruptions in family functioning. Thus, it may be important to evaluate the attachment styles and family functioning of patients with Internet addiction. Indeed, comprehensive treatment approaches including other family members may make important contributions to treatment success.     

Lumbar puncture requirement in acute hemiparesis: Diagnosis of tuberculous meningitis after hemiparesis in a child

Background

Infections are an important acquired cause of cerebral arteriopathy. Tuberculous (TB) meningitis leading to infectious cerebral vasculopathy is a rare cause of acute hemiparesis.

Case report

A 14-year-old male patient was examined after acute hemiparesis developing within 1 day. Neurological examination revealed total hemiplegia on the left side. Brain MRI findings showed bilateral focal T2-weighted signal hyperintensity in the subcortical and deep white matter regions. There were also areas of restricted diffusion in the right basal ganglia. Although the father had a history of pulmonary TB, the patient had not been given TB prophylaxis because of PPD negativity. At lumbar puncture, opening cerebrospinal fluid (CSF) pressure was 50 cm/H20, CSF protein 66.9 mg/dL, and glucose 54 mg/dL (concurrent blood glucose 93 mg/dL); 170 polymorphonuclear leukocytes per cubic millimeter were present in CSF. Following tests for TB, treatment was started immediately with four anti-TB drugs. TB PCR of CSF and acid-fast bacteria (AFB) staining in gastric aspirate were positive. At clinical follow-up, the patient was able to walk with support at the end of the first month.

Conclusion

Various infectious agents have been reported as causes of cerebral vasculopathy. TB, which affects a significant number of patients worldwide, should be kept in mind in terms of cerebral vascular complications. Lumbar puncture is essential in order to diagnose TB meningitis.     

The impact of pretreatment with bolus dose of enteral glutamine on acute lung injury induced by oleic acid in rats

Purpose

Both parenteral and enteral glutamine have shown beneficial effects in sepsis and ischemia/reperfusion-induced acute lung injury (ALI). Oleic acid (OA) has been used to induce ALI in experimental studies. In this study, we investigated the effects of pretreatment of a bolus dose of enteral glutamine on ALI induced by OA in rats.

Methods

Twenty-eight adult female Sprague–Dawley rats weighing 240–300 g were divided into four groups, 7 in each. Group I and group II received normal saline for 30 days, group III and group IV received glutamine at a dose of 1 g/kg for 10 days by gavage, and in group II and group IV 100 mg/kg OA was administered i.v. Histopathological examination of the lung was performed with light and electron microscopy. Levels of protein carbonyl, malondialdehyde, superoxide dismutase, catalase, and glutathione peroxidase levels were measured in tissue samples. Levels of tumor necrosis factor (TNF)-α, interleukin (IL)-6, IL-10, and total tissue oxidant status and total tissue antioxidant status were measured in serum samples.

Results

Light microscopy showed that the total lung injury score of group IV was significantly lower than group II. Change in thickness of the fused basal lamina was not significantly different in groups II and IV under electron microscopy. TNF-α, IL-6, and IL-10 serum levels were higher in group II when compared to group I and significantly attenuated in group IV.

Conclusion

Pretreatment with a bolus dose of enteral glutamine minimized the extent of ALI induced by OA in rats.     

Weighted hurdle regression method for joint modeling of cardiovascular events likelihood and rate in the US dialysis population

We propose a new weighted hurdle regression method for modeling count data, with particular interest in modeling cardiovascular events in patients on dialysis. Cardiovascular disease remains one of the leading causes of hospitalization and death in this population. Our aim is to jointly model the relationship/association between covariates and (i) the probability of cardiovascular events, a binary process, and (ii) the rate of events once the realization is positive—when the ‘hurdle’ is crossed—using a zero‐truncated Poisson distribution. When the observation period or follow‐up time, from the start of dialysis, varies among individuals, the estimated probability of positive cardiovascular events during the study period will be biased. Furthermore, when the model contains covariates, then the estimated relationship between the covariates and the probability of cardiovascular events will also be biased. These challenges are addressed with the proposed weighted hurdle regression method. Estimation for the weighted hurdle regression model is a weighted likelihood approach, where standard maximum likelihood estimation can be utilized. The method is illustrated with data from the United States Renal Data System. Simulation studies show the ability of proposed method to successfully adjust for differential follow‐up times and incorporate the effects of covariates in the weighting. Copyright © 2014 John Wiley & Sons, Ltd.     

siRNA therapy in cutaneous T-cell lymphoma cells using polymeric carriers

Cutaneous T-cell lymphomas (CTCLs) arise from specific molecular aberrations that lead to uncontrolled cell proliferation. RNA interference (RNAi) with short interfering RNAs (siRNAs) is a feasible approach to interrupt aberrant signal processing in CTCL cells, but functional biomaterial carriers are needed to effectively deliver siRNAs intracellularly. Towards this goal, we explored the utility of lipid-substituted polyethylenimines (PEI) carriers in a cell model of CTCL. Using caprylic and linoleic acid substituted 2 kDa PEI (PEI-CA and PEI-LA, respectively), we showed effective delivery of siRNA to T-lymphocyte Hut78 and Jurkat cells, but silencing of a model protein (Green Fluorescent Protein, GFP) was possible only in the Hut78 cells. To enhance siRNA delivery to Hut78 cells, a high siRNA: carrier ratio used to assemble the complexes and centrifugation of cells in the presence of complexes were found effective. The toxicities of PEI-CA and PEI-LA were significantly lower than other commercial carriers, 25 kDa PEI and Lipofectamine^® RNAiMAX. This might have contributed to reduced siRNA delivery efficiency of the latter carriers. Screening several endogenous targets led us to identify phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K) and cyclin-dependent kinase 18 (CDK18) as viable targets to induce siRNA-mediated cell growth inhibition. The results of this study identified promising polymeric carriers and molecular targets that could control proliferation of CTCL cells based on RNAi therapy.     

Paracetamol Therapy for Patent Ductus Arteriosus in Premature İnfants: A Chance Before Surgical Ligation

Patent ductus arteriosus (PDA) remains a common problem in premature infants. Treatment options include pharmacologic therapy and surgical ligation, but these are associated with potentially significant adverse effects. This report describes the effect of administering oral paracetamol to premature neonates with PDA. The study enrolled seven premature neonates followed up with the diagnosis of hemodynamically significant PDA (hsPDA) between February and December 2012 and treated with oral paracetamol. Patients with hsPDA were given at least two or more courses of ibuprofen treatment. If this therapy failed to promote ductal closure, the patients with clinical symptoms who had hsPDA defined by echocardiography were treated with oral paracetamol (15 mg/kg every 6 h). If these patients did not respond to paracetamol therapy, the PDA was closed by surgical ligation. The mean gestational age of the seven patients in this study was 26.1 weeks, and their mean birth weight was 936 g. Paracetamol treatment was started at 36.2 ± 11.6 days. The mean internal ductal diameter was 2.0 ± 0.2 mm, and the left atrium-to-aorta ratio was 1.5 ± 0.2. All the patients were administered oral paracetamol because of no response to ibuprofen treatment. The hsPDA was successfully closed with oral paracetamol in five (71.4 %) of the seven patients. The remaining two patients had surgical ligation performed, but one of them died. No side effects related to paracetamol were observed. Oral paracetamol may be used as an alternative drug for the management of hsPDA in premature neonates when ibuprofen treatment is unsuccessful and the only other therapeutic option is surgery.     

Evaluation of Systemic Levels of Neutrophilic Enzymes in Patients With Hypertension and Chronic Periodontitis

Background: Inflammation stimulates neutrophils to release their enzymes into the extracellular matrix. The aim of the present study is to investigate the serum levels of matrix metalloproteinase (MMP)‐8, MMP‐9, tissue inhibitor of MMP (TIMP)‐1, myeloperoxidase (MPO), and neutrophil elastase (NE) in patients with hypertension and chronic periodontitis (CP). Methods: A total of 95 patients were included in the study. Patients were categorized into three groups: healthy control (n = 29), hypertensive control (n = 32), and hypertensive CP (n = 34). Periodontal parameters were recorded, and serum samples were collected from each participant. Serum MMP‐8, MMP‐9, TIMP‐1, MPO, and NE levels in circulation were assessed by enzyme‐linked immunosorbent assay. Results: The hypertensive CP group had significantly higher serum MMP‐8, MMP‐9, and NE levels than the healthy control group (P <0.05). All study groups had similar serum TIMP‐1 levels (P >0.05). Significantly higher serum MPO levels were detected in patients with hypertension and CP than healthy controls and hypertensive controls (P <0.05); however, the difference in serum MPO levels was not significant between the healthy controls and hypertensive controls (P >0.05). There was no significant difference in MMP‐8/TIMP‐1 ratio among the study groups (P >0.05). MMP‐9/TIMP‐1 ratio was significantly higher in patients with hypertension and CP than healthy controls (P <0.05). Conclusions: The presence of hypertension along with CP has a considerable effect on serum neutrophilic enzyme levels, except TIMP‐1. However, the levels of these enzymes do not seem to be affected by the presence of hypertension only. Further studies including patients who have only CP might help illuminate the effect of CP on these enzymes in patients with hypertension.