Ruya Ozelsancak

Rapamycin therapy for renal, brain, and skin lesions in a tuberous sclerosis patient.

Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver. We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum). Radiologic examination revealed additional brain and renal lesions consisting of tumors, cysts, and angiomyolipomas. Treatment with rapamycin disclosed improvement in skin lesions. The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months. During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions. Imaging results showed reduction in tumor and angiomyolipoma volumes. Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease. Therefore, it may be an alternative therapy for TSC patients.

Increased Body Mass Index Is Not a Reliable Marker of Good Nutrition in Hemodialysis Patients

Objective. The aim of the study was to assess the body fat (BF) composition in hemodialysis (HD) patients using anthropometry and bioelectrical impedance analysis (BIA) and investigate relationships between BIA-determined BF composition and nutritional parameters in different weight groupings. Design. Cross-sectional study. Setting. A tertiary-care university hospital. Methods. 164 HD patients (M/F: 89/75, mean age: 48.4 ± 15.8 years, mean HD duration: 58.2 ± 42.6 months) were divided into three groups according to body mass index (BMI): normal weight (NW: BMI 18.5–24.9), overweight (OW: BMI 25–29.9), obese (OB, BMI ≥ 30). Biochemical parameters and BF composition using anthropometry and foot-to-foot BIA were compared between three groups. Results. Ninety-six (59%) patients were NW, 40 (24%) were OW, and 28 (17%) were OB. Average mean skinfold thickness (p = 0.005), mid-arm circumference (p = 0.001), BF% (p = 0.001), and fat-free mass (FFM) (p = 0.03) were all significantly greater in the OB group than in the NW group. Compared to the NW patients, the OB group had significantly higher serum levels of glucose (p = 0.03), total cholesterol (p = 0.02), and triglycerides (p = 0.02), but significantly lower serum albumin (p = 0.05) and blood urea nitrogen (p = 0.05). The OB group also had significantly higher white blood cell count (p = 0.002) and serum CRP (p = 0.001) than the NW group. Conclusions. The results suggest that BIA-determined BF composition is correlated with body mass index. In addition, obesity is associated with elevated CRP and white blood cell count and lower serum albumin level in HD patients.

Increased inflammatory markers are associated with obesity and not with target organ damage in newly diagnosed untreated essential hypertensive patients.

The aim of this study was to investigate whether inflammatory markers are associated with hypertensive end organ damage or obesity in patients with hypertension. Seventy newly diagnosed essential hypertensive patients (29 men and 41 women aged 49.6 ± 9.5 y) and 25 age–sex-matched normotensive subjects (12 men and 13 women aged 45.8 ± 7.3 y) were asked about their family history of hypertension and smoking habits, and body mass index (BMI) was recorded and blood samples were taken to measure fibrinogen, C-reactive protein (CRP), and homocysteine levels. In hypertensive patients, creatinine clearance, urinary albumin extraction, and left ventricular mass index were determined. Hypertensive patients had significantly higher BMIs and inflammatory markers when compared with normotensive healthy controls. The CRP was positively associated with BMI (P < .05), diastolic blood pressure (P < .05), fibrinogen (P < .01), urinary albumin extraction (P < .01), and left ventricular mass index (P < .05). The BMI and serum fibrinogen level were independently associated with CRP. The effect of inflammation on the development of hypertensive end organ damage may be associated with obesity, so that control of obesity may eliminate the inflammatory state in hypertensive patients and also hypertensive end organ damage.

CKD is associated with recurrent ischemia but not with hemorrhagic transformation in acute ischemic stroke patients

Abstract Background: We investigated the associations of Recurrent Ischemic Stroke (RIS) and Hemorrhagic Transformation (HT) with CKD in acute ischemic stroke patients. Method: The subjects were 160 patients, divided into two groups: with eGFR <60 mL/min/1.73 m2 (CKD), with eGFR ≥60 mL/min/1.73 m2 (without CKD). Results: Subjects having DM (p = 0.018), CKD (p = 0.025) and treated with ACEI/ARB (p = 0.039) revealed association with RIS. Regression analysis disclosed only CKD (p = 0.04). Carotid artery stenosis (p = 0.030) and serum calcium levels (p = 0.013) showed significant association with HT. Conclusion: Our results disclosed that CKD could be a risk factor for RIS. There is no relation between CKD and HT.

A very rare case of encephalopathy in a patient with end-stage renal disease: contrast agent, ioversol

Contrast agents are associated with a number of adverse effects, including central nervous system effects. These agents are primarily filtered and excreted by the kidney. Contrast-associated encephalopathy is a rare complication. We report the case of a 55-year-old male on chronic hemodialysis who developed confusion and agitation after receiving ioversol during abdominal angiography. Although hemodialysis was performed his healing took 15 days. Patients with end-stage renal disease may be at an increased risk of adverse effects of contrast agents.

The effects of cinacalcet treatment on bone mineral metabolism, anemia parameters, left ventricular mass index and parathyroid gland volume in hemodialysis patients with severe secondary hyperparathyroidism.

The aim of this study was to investigate the effects of cinacalcet therapy on anemia parameters, bone mineral metabolism, left ventricular mass index (LVMI) and parathyroid gland volume in hemodialysis (HD) patients with secondary hyperparathyroidism. Twenty-five HD patients (M/F: 11/14, mean age: 45.2±17.9 years, mean HD duration: 96.4±32.7 months) were included in this prospective pilot study. The indication to start calcimimetic therapy was persistent serum levels of parathyroid hormone (PTH)>1000 pg/mL, refractory to intravenous (i.v.) vitamin D and phosphate-binding therapy. The initial and one-year results of adjusted serum calcium (Ca+2), phosphate (P), Ca×P product, PTH, hemoglobin (Hb) and ferritin levels, transferrin saturation index (TSAT), median weekly erythropoietin (EPO) dose, LVMI, and parathyroid volume by parathyroid ultrasonography were determined. There were no differences between pre- and post-treatment levels of serum Ca+2 (P=0.853), P (P=0.447), Ca×P product (P=0.587), PTH (P=0.273), ferritin (P=0.153) and TSAT (P=0.104). After 1 year of calcimimetic therapy, the Hb levels were significantly higher than the initial levels (P=0.048). The weekly dose of EPO decreased with no statistical significance. The dose of cinacalcet was increased from 32.4±12.0 to 60.0±24.4 mg/day (P=0.01). There were no differences between the pre- and post-treatment results regarding weekly vitamin D dose, parenteral iron dose, LVMI and parathyroid volume. The results of our study suggest that cinacalcet therapy might have an additional benefit in the control anemia in HD patients.

Determination of the Impact of Hepatitis C Virus on Insulin Resistance and Arterial Stiffness in Hemodialysis Patients

Aim. It has been shown that Hepatitis C virus (HCV) seropositivity and carotis artery plaque formation are independently correlated in the general population. Insulin resistance is also a risk factor for atherosclerosis. The association between HCV and type 2 diabetes mellitus is known. Determination of the impact of HCV on insulin resistance and arterial stiffness in hemodialysis patients would help to prevent related cardiovascular complications. Methods. Thirty-seven HCV(+) and 30 HCV(-) HD patients were enrolled in this study. All patients were non-diabetic. Insulin resistance was assessed by “HOMA-IR.” Arterial stiffness was measured by “stiffness index b” and “elastic modulus.”Results. In the HCV(+) group, there were 20 males and 17 females, while the HCV(-) group had 19 males and 11 females. The mean age was 43.4 ± 16.7 years and 44.5 ± 16.8 years, respectively. The HOMA-IR was 1.50 in HCV(+) group and 1.31 in HCV(-) group (p > 0.05). Stiffness index b and elastic modulus measurements revealed no difference between groups. In the HCV(+) group, arterial stiffness parameters were correlated with age, white blood cell, thrombocyte, total and LDL cholesterol, uric acid, mean arterial pressure, diastolic blood pressure, and HOMA-IR. There was no association between arterial stiffness and the above-mentioned parameters in the HCV(-) group.Conclusion. We found that there was no association of arterial stiffness in HCV(+) patients with insulin resistance. Further studies with larger patient groups and more sensitive methods of detecting HCV are needed. This study is the first in literature on this issue.

Fibromyalgia syndrome in Turkish hemodialysis patients

The aim of our study was to evaluate the frequency of fibromyalgia syndrome (FMS) in hemodialysis (HD) patients and to assess whether this syndrome is associated with gender, age, duration of HD, or various laboratory parameters. This study was composed of 221 chronic HD patients (99 females and 122 males), and we recorded each participants age, gender, causes of kidney failure, HD duration, education level, and symptoms related to FMS, which was diagnosed according to the 2010 American College of Rheumatology criteria. We documented the laboratory parameters for all patients. In addition, patients with FMS filled out the Fibromyalgia Impact Questionnaire. Twenty‐two patients met the diagnostic criteria for FMS (9%), and there were no statistically significant differences related to age, gender, or HD duration between FMS and non‐FMS groups (P > 0.05). In addition, the education levels were lower in patients diagnosed with FMS (P < 0.05), and there were statistically significant differences related to sleep disturbance, fatigue, and cognitive symptoms between the two groups (P < 0.05) as well. However, their laboratory parameters were similar (P > 0.05). There was a higher prevalence of FMS in HD patients than in the general population. Sleep disturbances, fatigue, education level, and cognitive symptoms were associated with FMS, but there was no correlation between the laboratory parameters and this condition.

Listeriosis in a Patient Undergoing Hemodialysis: A Case Report and Review of the Literature

Listeria monocytogenes (L. monocytogenes) infection is an uncommon manifestation in patients with chronic renal failure. In this article, we present a case of L. monocytogenes bacteremia in a patient undergoing hemodialysis. In addition, we are also present the listeriosis cases in hemodialysis patients reported so far in the literature. The patient was a 58-year-old man who was undergoing hemodialysis and had been admitted to hospital with fever. On the 5th day of admission, L. monocytogenes was detected in his blood cultures. He responded dramatically to ampicillin treatment. Listeriosis is a disease that requires careful microbiological laboratory examination. If the patient cultures are not analyzed carefully, the disease can be misdiagnosed. Only early diagnosis and adequate treatment can ensure a good prognosis.

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: Acropareshesia • fatique Medication: — Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme α-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband’s mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.