Increased Levels of Macrophage Migration Inhibitory Factor in Patients with Familial Mediterranean Fever

Objective: To determine the level of macrophage migration inhibitory factor (MIF), its relationship with Mediterranean fever (MEFV) gene mutations and oxidative stress in familial Mediterranean fever (FMF).Methods: Fifty one unrelated attack free FMF patients (24 M and 27 F, 32.8±8.7 years) and 30 healthy controls (16 M and 14 F, 32.7±7 years) were included in the study. Serum MIF, total oxidant status (TOS) and total anti-oxidant status (TAS) were studied.Results: Age, sex distribution, anthropometrical indices, smoking status, serum lipids and TAS concentrations were similar between the patients and controls. However; erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), MIF, and TOS were significantly higher in the patients'' group compared with healthy subjects. MIF, TOS and TAS levels were not different between patients with or without M694V mutations.Conclusion: We found increased concentrations of MIF in patients with FMF. Increased MIF levels were significantly correlated with oxidative stress and in regression analysis MIF concentrations were independent from the inflammatory activity as assessed by ESR and CRP. M694V mutations seem no effect on MIF and oxidative stress.     

Nationwide Experience With Off‐Label Use of Interleukin‐1 Targeting Treatment in Familial Mediterranean Fever Patients

Objective

Approximately 30–45% of patients with familial Mediterranean fever (FMF) have been reported to have attacks despite colchicine treatment. Currently, data on the treatment of colchicine‐unresponsive or colchicine‐intolerant FMF patients are limited; the most promising alternatives seem to be anti–interleukin‐1 (anti–IL‐1) agents. Here we report our experience with the off‐label use of anti–IL‐1 agents in a large group of FMF patients.

Methods

In all, 21 centers from different geographical regions of Turkey were included in the current study. The medical records of all FMF patients who had used anti–IL‐1 treatment for at least 6 months were reviewed.

Results

In total, 172 FMF patients (83 [48%] female, mean age 36.2 years [range 18–68]) were included in the analysis; mean age at symptom onset was 12.6 years (range 1–48), and the mean colchicine dose was 1.7 mg/day (range 0.5–4.0). Of these patients, 151 were treated with anakinra and 21 with canakinumab. Anti–IL‐1 treatment was used because of colchicine‐resistant disease in 84% and amyloidosis in 12% of subjects. During the mean 19.6 months of treatment (range 6–98), the yearly attack frequency was significantly reduced (from 16.8 to 2.4; P < 0.001), and 42.1% of colchicine‐resistant FMF patients were attack free. Serum levels of C‐reactive protein, erythrocyte sedimentation rate, and 24‐hour urinary protein excretion (5,458.7 mg/24 hours before and 3,557.3 mg/24 hours after) were significantly reduced.

Conclusion

Anti–IL‐1 treatment is an effective alternative for controlling attacks and decreasing proteinuria in colchicine‐resistant FMF patients.

     

Comparison of spermatic vein histology in patients with and without varicocele

The aim of this study was to investigate and compare histological characteristics of spermatic veins in patients with and without varicocele. Between February 2009 and July 2009, spermatic veins were obtained from 13 patients with varicocele. Microsurgical subinguinal low ligation was performed in all patients. Spermatic veins of patients without varicocele were obtained from 12 patients who underwent radical nephrectomy. Histologically, sections of veins were stained with haematoxylin and eosin. Mean tunica adventitia thickness size of the spermatic veins was 0.35 ± 0.08 mm and 0.22 ± 0.1 mm respectively in patients with varicocele and control group (P = 0.001). Similarly, mean tunica media thickness size of the spermatic veins was 0.25 ± 0.05 mm and 0.09 ± 0.04 mm respectively in patients with varicocele and control group (P < 0.001). No significant differences were detected regarding the tunica adventitia and tunica media thicknesses when patients with grade 2 varicocele were compared with patients with grade 3 varicocele (P > 0.05). No significant differences were detected between the tunica adventitia and tunica media thicknesses of patients with varicocele and sperm parameters (P > 0.05). Our study demonstrated that tunica adventitia and tunica media thicknesses seem to be increased in patients with varicocele compared with normal subjects.     

Late Presentation of Bochdalek-Type Congenital Diaphragmatic Hernia in Children: A 23-Year Experience at a Single Center

Purpose The purpose of this article is to report on our 23-year experience of treating children with late-presenting congenital diaphragmatic hernia (CDH), focusing on diagnostic difficulties, associated anomalies, and morbidity. Method We reviewed 19 children in whom Bochdalek-type CDH was diagnosed after the neonatal period, between 1983 and 2005. Results There were 14 boys and 5 girls, with a mean age of 18.3 months (range, 5 weeks–14 years). Ten (52.6%) of the patients presented with respiratory symptoms and five (26.3%) with gastrointestinal symptoms. The diagnosis of CDH was based on the findings of chest X-rays, gastrointestinal tract contrast radiographs, and computerized tomography findings. The CDH was on the left side in 16 patients and on the right side in three patients. A hernia sac was present in seven (36.8%) patients. The only postoperative complications were intestinal obstruction caused by adhesions, incisional hernia, and eventration of the diaphragm in one patient each. None of the patients died within this study period. Conclusion The possibility of a delayed presentation of CDH should be considered in the differential diagnosis of recurrent non-specific respiratory or gastrointestinal tract symptoms in a child. A plain roentgenogram with a swallowed nasogastric tube might assist in the diagnosis. Early surgical correction of the diaphragmatic defect is crucial for preventing life-threatening complications.