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.     

Use of levosimendan in patients with ischemic heart disease following mechanical reperfusion

Cardiac failure is among the most significant conditions associated with acute coronary syndrome. In ischemic heart disease, serious hemodynamic problems are reported in patients with left ventricular dysfunction during the acute phase despite mechanical revascularization. Several positive inotropic agents in addition to intra-aortic balloon pump (IABP) are required to support patients with impaired left ventricular pump function during this phase. Intravenous inotropic agents, beta-mimetics, and phosphodiesterase inhibitors lead to increases in the incidence of arrhythmia and myocardial O₂ consumption owing to their effect of increasing intracellular calcium amount, although they produce rapid hemodynamic improvements in cardiac failure. This causes severe problems particularly in cardiac failure of ischemic origin. Recently, levosimendan, a calcium-sensitizing agent with cardioprotective properties, is being used alone or in combination with IABP in cases with severe left ventricular systolic dysfunction during mechanical revascularization procedures (percutaneous coronary interventions, coronary bypass surgery). This review includes studies with levosimendan in cases not recovering due to myocardial stunning in the acute phase despite mechanical approaches applied.     

Rhinorrhoea from a frontal encephalocele after reduction of high intracranial pressure

Acquired non-traumatic frontal sinus encephaloceles are very rare lesions that are usually caused by a tumour or hydrocephalus. We present a 31-year-old woman with a frontal sinus encephalocele who developed rhinorrhoea after a ventriculo-peritoneal shunt to treat her hydrocephalus and underwent radiotherapy for a tectum tumour.     

Rare cause of subarachnoid hemorrhage: spinal meningeal carcinomatosis. Case report

Subarachnoid hemorrhage (SAH) of spinal origin is a rare entity accounting for approximately 1% of all cases of SAH. Its most frequent causes are trauma and vascular malformations. Although primary spinal tumors, especially ependymomas, are also relatively common causes, SAH secondary to a metastatic spinal tumor arising from outside the central nervous system is an extremely rare condition; only one case has been reported in the literature. The authors present a case of spinal meningeal carcinomatosis secondary to cutaneous malignant melanoma in which the patient presented with only symptoms of SAH. Although very rare, this case underscores several factors. 1) Spinal SAH due to spinal metastases should be considered in the differential diagnosis of patients with previously known malignancy. 2) Spinal SAH may manifest without paraparesis or sensory deficit. 3) Magnetic resonance imaging of the spinal cord may be important to determine the source of SAH in patients in whom four-vessel cerebral angiography demonstrates no abnormal findings.     

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.     

Ginger (zingiber officinale) might improve female fertility: A rat model

Background

Ginger (Zingiber officinale) is a well known and extensively used antioxidant in traditional remedies. In this study, we aimed to investigate the effects of ginger powder on ovarian folliculogenesis and implantation in rats.

Effects of calcitonin, risedronate, and raloxifene on erythrocyte antioxidant enzyme activity, lipid peroxidation, and nitric oxide in postmenopausal osteoporosis

BACKGROUND: The aims of this study were to compare erythrocyte antioxidant enzyme activities, lipid peroxidation, and nitric oxide levels (NO) in women with postmenopausal osteoporosis (PMO) and non-porotic postmenopausal healthy controls and to assess the relationship between bone mineral density and these oxidant/antioxidant parameters. Additionally, in vivo effects of three different anti-osteoporotic drugs, calcitonin, risedronate and raloxifene, on the erythrocyte oxidant-antioxidant status in women with PMO were also assessed. METHODS: Postmenopausal women aged 40-65 years and without previous diagnosis or treatment for osteoporosis and independent in activities of daily living were included. Bone mineral density was measured at the lumbar spine and proximal femur using DXA. Erythrocyte enzyme activities of superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), catalase (CAT), and lipid peroxidation end-product malondialdehyde (MDA) and nitrite/nitrate levels, by product of NO, were assessed. Fifty-nine women with PMO were included (mean age 56.7 years), 44 completed course of therapy and were analyzed. Twenty-two non-porotic healthy women (mean age 55.8 years) were included as controls. RESULTS: Patients had significantly lower CAT and GSH-Px enzyme activity and higher levels of MDA and NO than non-porotic healthy controls. Proximal femur BMD measurements significantly correlated with NO levels. QUALEFFO scores improved in different levels with these short-term treatments. In all treatment groups, erythrocyte MDA levels significantly decreased; moreover, risedronate reduced NO levels and raloxifene enhanced CAT enzyme activity. CONCLUSIONS: Oxidative stress plays an important role in the pathogenesis of PMO. Studied drugs had ultimate effects on reducing lipid peroxidation. Raloxifene also had potent effects in the enhancement of antioxidant defense system.     

Maternal serum thrombospondin-1 is significantly altered in cases with established preeclampsia

Purpose: The aim of the study was to investigate whether maternal serum TSP-1 level was associated with PE.

Materials and methods: In our case control study, 84 pregnant women in the third trimester were included. Forty-one of them were healthy and 43 of them were with the diagnosis of PE. The diagnosis was based on the definitions of the National High Blood Pressure Education Program working Group on High Blood Pressure in Pregnancy. Preeclamptic patients were divided into two subgroups as mild and severe. Blood pressure (BP) of pregnant women were obtained in left-side lying position using a mercury sphygmomanometer after at least 10 minutes of rest. Ten milliliters of venous blood was taken from every pregnant women and dispensed into lithium heparin and serum was obtained. Samples were stored at ?80?°C until analyzed. Serum TSP-1 level was measured using enzyme-linked immunosorbent assay (ELISA). All tests were two-tailed and p < .05 was considered to be statistically significant.

Results: TSP-1 level was significantly lower in PE group than in controls (p?=?.003). Platelet counts were similar in two groups (p = .26). TSP-1 levels were significantly lower in severe PE than in mild PE cases. According to the subgroup analysis, TSP-1 level was found significantly lower in severe preeclampsia group compared to control group (p = .015).

Conclusions: In light of the association between endothelial dysfunction and preeclampsia, we claim that lower levels of TSP-1 which is released mostly from endothelial cells seem to reflect disease severity in PE. Our study reveals that maternal serum TSP-1 levels decrease in pregnant women presenting with PE and TSP-1 may be a new biomarker for the detection of PE and even severity of it. Further studies especially prospective ones with greater numbers of cases are needed.