Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family

We investigated the presence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family with recurrent fever and systemic reactive (AA) amyloidosis. A missense mutation in exon 3 of the TNFRSF1A gene, resulting in an amino acid substitution Phe60Leu (F60L) was found in the proband and his father. These are the first confirmed TRAPS cases in the Turkish population. This family highlights the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.     

Long-term ultrasonographic follow-up of plantar fasciitis patients treated with steroid injection

OBJECTIVE: To evaluate the long-term efficacy of steroid injection for plantar fasciitis using clinical parameters and high-resolution ultrasonography. MATERIAL AND METHODS: Thirty patients (27 female and three male) with plantar fasciitis and 30 healthy controls matched by age, gender and body mass index (BMI), were enrolled in this study. Seventeen of the patients had bilateral and 13 had unilateral (six right, seven left) plantar fasciitis. Palpation-guided steroid injection was applied to the 47 heels of 30 plantar fasciitis patients. Ultrasound examination and pain intensity with visual analog scale (VAS) were assessed three times in each plantar fasciitis patients; before injection and at 1 and 6 months after steroid injection. Ultrasonography was performed to the controls at initial assessment. RESULTS: The plantar fascia was remarkably thicker in the plantar fasciitis group than in controls (P < 0.001). The thickness of the plantar fascia and mean VAS values in the plantar fasciitis group decreased significantly 1 month after steroid injection (P < 0.001, P < 0.001, respectively) and a further decrease was noted 6 months postinjection (P < 0.001, P < 0.001, respectively). Strong correlation was found between the changes of plantar fascia thickness and VAS values 1 month after (P < 0.001, r: 0.61) and 6 months after (P < 0.001, r: 0.49) steroid injection. The incidence of hypoechoic fascia was 73% in the plantar fasciitis group before steroid injection. It decreased significantly at 1 and 6 months postinjection (33% and 7%, respectively, P < 0.001). Gross fascia disruption or other side effects were not observed after steroid injection. CONCLUSION: Steroid injection could be used in plantar fasciitis treatment for its positive long-term effects.     

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.     

Nephropathy and retinopathy in type 2 diabetic patients living at moderately high altitude and sea level

BACKGROUND: High-altitude-induced hypoxia results in various diseases, such as chronic mountain sickness and high altitude retinal edema, and may affect severity and incidence of some cardiovascular diseases. In order to evaluate the effects of moderately high altitude on diabetic nephropathy and retinopathy, a cross-sectional study was planned. MATERIAL METHOD: Long-term type II diabetic residents of sea level (n=75, 38 male, 37 female, mean age 51.9+/-10.5 in Trabzon and Zonguldak cities) and moderately high altitude (h = 1,727 m, n = 73, 28 male, 45 female, mean age 48.3+/-12.1, Van city) were compared. RESULTS: No difference was observed in terms of age, gender, diabetes duration, body mass index, smoking, systolic, diastolic, and mean arterial blood pressure values, serum glucose levels, cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, hemoglobin, HbA1C, hypertension control, or blood pressure medications and retinopathy incidence. Mean 24 h protein excretion (210.0+/-139.9, 127.8+/-112.1 mg; P=0.00), proteinuria prevalence (57.5% versus 33.3%, p=0.003), and serum creatinine levels (1.04+/-0.22 versus 0.84+/-0.21, p = 0.00) were significantly higher in the highlanders, glomerular filtration rate (GFR) was significantly lower in sea level (SL) patients (90.9+/-26.5 versus 83+/-21.1, p=0.05). CONCLUSION: Tendency to diabetic nephropathy as indicated by higher proteinuria and creatinine levels is increased among type 2 diabetic patients living at moderately high altitude. Prospective studies are needed to confirm these findings.     

Adolescent varicocele repair: long-term results and comparison of surgical techniques according to optical magnification use in 100 cases at a single university hospital

PURPOSE: We review the long-term results of varicocele repair, and compare the complication rates of varicocelectomy techniques according to optical magnification use in adolescents with varicocele at a single university hospital. MATERIALS AND METHODS: We prospectively studied 100 males 7 to 19 years old with clinical palpable varicocele. Of the patients 52 (52%) underwent left unilateral varicocelectomy and 48 (48%) underwent bilateral varicocelectomy. Varicocelectomy was performed using a microscope in 49 patients (79 sites), loupe magnification in 25 (35 sites) and no magnification in 26 (34 sites) using either a subinguinal or inguinal approach. Postoperative complications were compared in all patients based on technique. Preoperative and postoperative serum hormone values and semen parameters were compared in 33 patients. RESULTS: Mean postoperative followup was 30.4 +/- 13.06 months (12 to 65). Total motile sperm count increased from 22.6 million +/- 5.16 million to 64.53 million +/- 12.3 million postoperatively, which was statistically significant (p = 0.002). Postoperative recurrence rates were 0% in cases managed by microsurgical varicocelectomy, 2.9% in those where loupe magnification was used and 8.8% in those where no magnification was used. Postoperative hydrocele rates in these cases were 0%, 2.9% and 5.9%, respectively. The highest rates of recurrence and hydrocele were observed in cases where no magnification was used, compared to those managed by microsurgery (p = 0.03 and p = 0.116, respectively). CONCLUSIONS: Adolescent varicocele repair improves semen parameters and is a safe method with low recurrence and low complication rates. Our study suggests that the postoperative complication rate significantly decreases with use of higher magnification, such as microscopy. Microsurgical varicocele repair is the best technique with the lowest postoperative rates of recurrence and hydrocele in the treatment of adolescent varicoceles.     

Effect of bladder ischaemia/reperfusion on superoxide dismutase activity and contraction

OBJECTIVES: To correlate the effect of bilateral in-vivo bladder ischaemia/reperfusion on superoxide dismutase activity (SOD) and then to correlate this with contractile responses to various forms of stimulation. MATERIALS AND METHODS: Twenty mature male New Zealand White rabbits were divided into five equal groups: group 1 (controls); group 2, 2 h of in-vivo bilateral bladder ischaemia; and groups 3-5, 2 h of in-vivo ischaemia followed by 1, 7 or 14 days of reperfusion (recovery). At the end of the treatment period, bladder strips were incubated and placed in isolated baths for contractile studies. The contractile responses to field stimulation, carbachol (10 micromol/L), ATP and KCl were determined. The balance of the bladder body was separated into muscle and mucosa sections and analysed for SOD activity. RESULTS: There were few effects on contraction either directly after ischaemia or after 1 day of reperfusion. However, all contractile responses were significantly reduced at 7 and 14 days after ischaemia. SOD activity of the detrusor muscle was reduced significantly immediately after ischaemia and at 7 and 14 days of reperfusion. SOD activity of the mucosa was significantly greater than that of the muscle, and was significantly reduced by both ischaemia and all times of reperfusion. CONCLUSIONS: These studies show clearly that both ischaemia and reperfusion result in significantly lower activity of SOD, and in contractile dysfunctions, and that reperfusion results in greater decreases in both SOD activity and contractile responses than ischaemia alone.     

Antithrombin III attenuates pulmonary tissue injury caused by mesenteric ischemia-reperfusion

BACKGROUND: Mesenteric ischemia-reperfusion (I/R) is a well-known event causing both local and remote organ injuries, including the lungs. Recently, several studies indicated that activated leukocyte-endothelial cell interactions play an important role in the mechanisms of these injuries. As a natural inhibitor of serine proteases, antithrombin was shown previously to attenuate the tissue damage after local I/R in several organ systems. Here, we examined the effects of antithrombin on pulmonary injury after mesenteric I/R. METHODS: Wistar albino rats underwent median laparotomy and were randomized into 3 groups: (1) sham-operated control (n = 12), (2) 60 minutes of mesenteric ischemia and 3 hours of reperfusion (n = 12), and (3) antithrombin-pretreated (250 U/kg) group before the I/R (n = 12). At the end of reperfusion, animals were killed and neutrophil sequestration, myeloperoxidase (MPO) activity, and Evans blue dye extravasation in the lung parenchyma were assessed and compared. RESULTS: There was a statistically significant increase in the quantity of Evans blue dye concentration, leukocyte sequestration, and MPO activity in the I/R group when compared with the control group. The pretreatment of animals with antithrombin significantly decreased the pulmonary injury characterized by increased Evans blue dye extravasation, leukocyte sequestration, and MPO activity. CONCLUSION: The data of the present study suggest that mesenteric ischemia and reperfusion induces pulmonary injury characterized by activated neutrophil sequestration and increased microvascular leakage in the lungs. A significant attenuation of intestinal I/R-related lung injury with the use of antithrombin concentrate warrants further studies to elucidate the potential role of this natural serine protease inhibitor in clinical settings.     

TNF Alpha−308 Genotype and Renin–Angiotensin System in Hemodialysis Patients: An Effect on Inflammatory Cytokine Levels?

BACKGROUND: Renin-angiotensin system (RAS) was suggested to modulate inflammatory cytokine production. Angiotensin II was consistently shown to increase production of tumor necrosis factor alpha (TNF-alpha). However, inflammatory cytokines and RAS were modulated by genetic polymorphisms such as TNF-alpha-308 G > A and angiotensin-converting enzyme (ACE) I/D gene polymorphisms. The aim of this study was to investigate the effects of ACE and TNF-alpha genotypes on inflammatory cytokines in hemodialysis (HD) patients. METHODS: ACE I/D and TNF-alpha-308 G > A genotypes, pre- and postdialysis plasma renin activity (PRA), serum ACE, interleukin-1 beta (IL-1beta), and TNF-alpha levels were determined in 22 HD patients. RESULTS: Predialysis serum ACE activity is correlated with TNF-alpha (r = 0.63; P = 0.01), and PRA was correlated with IL-1beta levels (r = 0.49; P = 0.02). Pre/postdialysis IL-1beta and TNF-alpha were similar in DD and II/ID ACE genotypes. Predialysis TNF-alpha and IL-1beta (32.4 +/- 5; 35.1 +/- 4.2 vs. 28.1 +/- 3.7; 26.5 +/- 6.2 pg/mL; P < 0.05) and postdialysis TNF-alpha levels (30.4 +/- 1.4 vs. 28.4 +/- 0.82 pg/mL; P < 0.05) were significantly higher in TNF1/2 than TNF1/1 patients. CONCLUSION: ACE and TNF-alpha-308 G > A (1/2) gene polymorphisms may contribute to modulation of proinflammatory cytokine production and hence chronic inflammation in HD patients.     

Scintigraphic diagnosis of tricuspid regurgitation

The authors describe a simple technique for diagnosis of tricuspid regurgitation. Red blood cells were labeled in vivo with 99mTc and 22 patients were studied with ECG-gated blood-pool imaging of the liver. A single region of interest was manually drawn around the liver and a time-activity curve obtained. The per cent change in liver counts during the cardiac cycle was found to be significantly higher in the 12 patients with tricuspid regurgitation (Group I) (mean, 4.04 +/- 1.6%; range, 1.3-21.4%) compared with the 10 controls (Group II) (mean, 0.35 +/- 0.16%; range, 0.013-1.3%) (p less than 0.05). Using a 1% change in liver counts as the criterion of a positive study, all 12 cases in Group I were diagnosed correctly, but there was one false positive in Group II; thus the sensitivity was 100% and the specificity 90%.