Are systemic lupus erythematosus patients carrying MEFV gene less prone to renal involvement? Report of three cases and review of the literature.

Familial Mediterranean fever (FMF) is an autosomal recessive auto inflammatory disease, characterized by acute attacks of serositis, arthritis or skin rash. Systemic lupus erythematosus (SLE) is a chronic, autoimmune disease characterized by multisystem inflammatory lesions affecting any organ systems in the body. Coexistence of FMF and SLE is rare in literature. In this report, we present three patients with FMF associated with SLE.

Effect of dialysis type on orbital vascular flow in patients with end-stage renal disease.

PURPOSE: To evaluate ocular blood flow dynamics by color Doppler ultrasonography (CDU) in patients with end-stage renal disease (ESRD). Additionally, to investigate the effect of dialysis type on ocular blood flow by comparing the findings of peritoneal dialysis (PD) subjects, hemodialysis (HD) subjects, and healthy controls. MATERIAL AND METHODS: Forty patients (21 HD and 19 PD) and 40 controls were included in the study. CDU and spectral analysis of temporal posterior ciliary artery (TPCA) and central retinal artery (CRA) were performed to evaluate peak systolic flow velocity (PSV), end diastolic flow velocity (EDV), and resistive indices (RIs). Ocular blood flows were examined before and after HD. Post-HD findings were compared with those in PD subjects and healthy controls. RESULTS: PSV and EDV values in CRA and TPCA after HD sessions were found to be significantly decreased when compared with pre-dialysis values. There was no statistically significant difference between the pre-dialysis and post-dialysis RI values of both arteries. Systolic and diastolic blood flows in CRA and TPCA were higher and RI values were lower in PD subjects than in HD and controls. No significant difference was seen between HD subjects and controls. CONCLUSION: After a single HD session, ocular blood flows of patients with ESRD were normalized. But PD subjects show higher systolic and diastolic ocular blood flows than healthy controls, suggesting that HD is more effective than PD for achieving normal ocular blood flow.

Pulmonary and cardiac involvement in Behçet disease: 3 case reports.

Pulmonary and cardiac involvement in Behçet disease is rare but can cause life-threatening complications. This report presents computed tomography and magnetic resonance angiography findings in 3 patients with Behçet disease. Imaging findings were confirmed by surgery in 1 patient and by angiography in another. One patient had bilateral pulmonary artery aneurysms, 1 of which had already ruptured and had thrombosed. The other had unilateral pulmonary artery aneurysm and thrombosis accompanied with intracardiac thrombus formation. The third patient had unilateral pulmonary artery aneurysm, thrombus, and coronary artery aneurysm. As in our case, there have been rare reports of coronary artery disease and intracardiac thrombus formation associated with pulmonary vascular involvement. Noninvasive imaging modalities minimize any risk of endothelial damage and can be an alternative to angiography in assessment of pulmonary and cardiac involvement in Behçet disease.

Evaluation of arterial blood flow changes by orbital Doppler in chronic obstructive pulmonary disease and asthma.

PURPOSE: Both chronic obstructive pulmonary disease (COPD) and asthma are important causes of morbidity and mortality worldwide. They primarily affect the lungs, but they have various extrapulmonary manifestations. The aim of our study was to evaluate the hemodynamic changes in orbital vessels of the patients with COPD and asthma using color Doppler ultrasonography and compare the results with healthy control subjects. METHODS: Thirty-seven patients with COPD, 37 patients with asthma, and 41 healthy control subjects were included in this study. All patients with COPD were in moderate to severe group according to GOLD (Global Initiative for Chronic Obstructive Lung Disease), and similarly, all patients with asthma were in moderate to severe persistent group according to GINA (Global Initiative for Asthma) 2006 guidelines. End-tidal carbon dioxide, peripheral oxygen saturation, pulse rate, and respiratory rate were measured by using pulse oximeter in all patients. Measurements were performed in only 1 randomly selected eye of each participant. The peak systolic velocity, end diastolic velocity, and resistance index were measured in the central retinal artery, temporal posterior ciliary artery, and nasal posterior ciliary artery using the color Doppler ultrasonography technique. RESULTS: The peak systolic velocity, end diastolic velocity, and resistance index values of temporal posterior ciliary artery and nasal posterior ciliary artery were significantly higher in COPD and asthma than in the control subjects. There was no difference between asthma and COPD. CONCLUSIONS: We concluded that retrobulbar hemodynamics change in COPD and asthma is showing 1 of the systemic effects in these diseases.

Sonoelastographic assessment of the age-related changes of the Achilles tendon.

AIMS: Tendons are crucial for optimal muscle force transfer and subject to changes with aging which may impair functional ability of elderly individuals. Achilles is the largest and the strongest tendon in the body; therefore it is an excellent site for the radiologic investigation of aging of tendons. Sonoelastography (SE) is a new ultrasound-based imaging technique that provides information on elastic properties and stiffness of tissues. The aim of our study was to investigate the age-related alterations in Achilles tendons using SE. MATERIAL AND METHODS: Forty five geriatric (age ≥ 65 years) and 42 young (age 18-40 years) healthy consecutive subjects were enrolled. Subjects with known history of metabolic or endocrine diseases, sports or traumatic injuries, peripheral vascular disorders were excluded. Both Achilles tendons were scanned with a real-time SE probe at a frequency of 6-15 MHz. Strains of Achilles tendons' proximal, middle and distal parts were assessed semi-quantitatively with comparing a reference tissue. RESULTS: Both SE methods -color coded evaluation and strain measurement- showed a remarkably stiffer tendon in the elderly subjects compared to young subjects in all thirds of Achilles tendons. In young subjects 84.9 % tendon thirds were blue, and 15.1% were green whereas, in elders 93.7% were blue and 6.3% were green (p=0.024). There was a significant correlation between age and stiffness of tendons assessed with strain indices. CONCLUSION: Our result showed increased tendon stiffness in elderly subjects which might be responsible for the high prevalence of Achilles tendinopathies observed in elderly subjects.

Atypical ß-Catenin Activated Child Hepatocellular Tumor.

Hepatocellular adenomas are a benign, focal, hepatic neoplasm that have been divided into four subtypes according to the genetic and pathological features. The ß-catenin activated subtype accounts for 10-15% of all hepatocellular adenomas and specific magnetic resonance imaging features have been defined for different hepatocellular adenomas subtypes. The current study aimed to report the magnetic resonance imaging features of a well differentiated hepatocellular carcinoma that developed on the basis of ß-catenin activated hepatocellular adenomas in a child. In this case, atypical diffuse steatosis was determined in the lesion. In the literature, diffuse steatosis, which is defined as a feature of the hepatocyte nuclear factor-1α-inactivated hepatocellular adenomas subtype, has not been previously reported in any ß-catenin activated hepatocellular adenomas case. Interlacing magnetic resonance imaging findings between subtypes show that there are still many mysteries about this topic and larger studies are warranted.

A case of pulmonary artery hydatid cyst observed on endobronchial ultrasound.

Hydatid cyst (HC) is a parasitic disease that may involve many organs, especially the lung and the liver. Pulmonary artery location of the hydatid cyst is extremely rare, but it may cause life-threatening complications. We report a case of a hydatid cyst that completely filled the left main pulmonary artery and its distal part without cardiac involvement. Thoracic computed tomography showed filling defects in the pulmonary arteries. Endobronchial ultrasound was performed for differential diagnosis and it showed a cystic lesion. Hydatid cyst-specific IgE and hem agglutination test results were positive. In the literature, cases like this in which the diagnosis of pulmonary hydatid cyst is made by endobronchial ultrasound are not usually seen. Although many imaging modalities such as plain chest radiography, cross-sectional imaging (MDCT and MRI), echocardiography and conventional pulmonary angiography have been used in the diagnostic approach, we recommend endobronchial ultrasound for the differential diagnosis of cases with cystic formation.

Prenatal diagnosis of type 1 fibular hemimelia.

Fibular hemimelia (FH) is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula. Typically, it has been diagnosed at birth, when the neonate is seen to have lower limb shortening and a foot with missing toes. Although it is the most frequent lower limb deficiency anomaly, there are few published reports of prenatally diagnosed cases. Most of these published cases have involved the complete absence of the fibula, which is relatively easy to diagnose with antenatal ultrasound. In our opinion, our case is the first case of unilateral partial absence of the fibula detected using prenatal ultrasound imaging. Herein, we report a FH case associated with foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 24 weeks' gestation. The anomaly was confirmed after birth by X-ray, and conservative orthopedic management was chosen. Our case shows that partial limb defects can also be detected by prenatal ultrasound imaging.

Early sonographic diagnosis of neurocutaneous melanosis in a newborn.

Neurocutaneous melanosis (NCM) is a rare, congenital non-hereditary syndrome, characterized by multiple pigmented nevi. We report the radiologic findings of a newborn who had extensive cutaneous melanotic nevus with satellite lesions in the brain. Ultrasound showed multiple echogenic foci in the cerebral parenchyma. Subsequent MRI confirmed these lesions as characteristic deposits of melanin. The infant was asymptomatic, but presence of risk factors such as malign transformation or neurological manifestations makes early diagnosis very important. We present this case to emphasize on the radiological findings of this syndrome in order to reach an early diagnosis.

A new radiological approach to cyclic mastalgia: venous doppler ultrasound.

OBJECTIVE: To evaluate the role of the venous system in cyclical mastalgia. MATERIALS AND METHODS: 25 healthy women and 39 women with cyclic mastalgia underwent venous Doppler examination in both pre- and postmenstrual period. Upper-outer quadrant veins of breast were evaluated. The impedance indices of both groups were compared in both the premenstrual and postmenstrual period. RESULTS: During the premenstrual period, venous impedance indices were significantly higher in the patients with cyclic mastalgia (p=0.004) than in the control group. After the menstrual period, there was no difference in venous impedance indices between the groups. CONCLUSION: Excessive tissue oedema might be responsible for both a tension-mediated pain and a compression of the venous system thereby showing higher impedance than that in control group.