ADAMTS13 gene; a novel splicing site mutation in a case with thrombotic thrombocytopenic purpura

A plasma protease, ADAMTS13, cleaves the von Willebrand factor (VWF) and its deficiency is associated with the pathogenesis of thrombotic thrombocytopenic purpura (TTP). According to the Human Gene Mutation Database (HGMD), about 150 mutations have been identified in the ADAMTS13 gene. A 23-year-old man, with hematuria and gingival bleeding was admitted to our University Hospital. Four years ago he was diagnosed with a TTP history. During these years, he was under intermittent plasma exchange. A blood sample was taken for genetic study. He effectively responded to one session of fresh frozen plasma replacement and plasma exchange. Genetic study indicated that this case carries two heterozygous mutations in ADAMTS13 gene; a novel splicing variant (c.2610+5G>A) and a nonsense p.Arg910X mutation that previously is reported to relate to TTP. The novel variant predicted to result in an aberrant ADAMTS13 transcript processing

DIURNAL VARIATIONS IN BLOOD PRESSURE AND THEIR RELATION WITH CAROTID ARTERY INTIMA-MEDIA THICKENING

Abstract&nbsp; INTRODUCTION: Hypertension is a very common cardiovascular disease with extensive effects on body organs. This study was conducted to compare the extent of target organ damage in hypertensive patients with and without significant nocturnal fall in blood pressure (dippers and non-dippers, respectively). methods: One-hundred patients with recently diagnosed hypertension underwent 24-hour ambulatory blood pressure monitoring and carotid Doppler ultrasonography. They were divided into patients with nocturnal fall in blood pressure (dippers) and without nocturnal fall in blood pressure (non-dippers). results: Sixty-five patients with nocturnal systolic blood pressure fall greater than 10% (dippers) were matched for age, sex, body mass index (BMI) and body mass area (BMA) with 35 patients with less than 10% fall in nocturnal blood pressure (non-dippers). The two groups were not different in terms of ambulatory and mean 24-hour blood pressure. Assessments showed significantly greater carotid intima-media thickening in the non-dipper group. Discussion: This study suggests that a reduced nocturnal fall in blood pressure may play a pivotal role in the development of some features of target organ damage such as carotid intima-media thickening, despite similar clinical findings and no significant difference in mean 24-hour blood pressure.Keywords &bull; Hypertension &bull; Ambulatory blood pressure monitoring &bull; Carotid intima-media thickness &bull; Carotid color Doppler sonography</p

Mediterranean fever gene mutations in patients with idiopathic mesangial proliferative glomerulonephritis

Background: Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease. Kidney involvement in FMF is usually attributed to secondary amyloidosis. Non-amyloid glomerular involvement has also been reported. Objectives: We suppose that heterozygous mutation of Mediterranean fever (MEFV) gene could be the underlying cause in some cases of mesangial proliferative glomerulonephritis (MePGN) in FMF endemic area. Materials and Methods: This prospective study was done between 2013 and 2015 in NorthWest of Iran among the Azari-Turkish population. A panel of MEFV gene including M680I, R761H, M694V, R408Q, E148Q, A744S, F479L, P369S, V726A, M694I, and E167D were studied in a group of patients with idiopathic MePGN. Clinical characteristics and therapeutic responses were compared between those with and without a mutation. A total of 39 idiopathic MePGN patients and 156 healthy subjects were studied. Results: Heterozygote mutations of MEFV gene were detected in 11/39 (28.2%) of MePGN patients and 46/156 (17.3%) of controls. Clinical response regarding 24 hours urine protein excretion was significant in mutation-negative patients after 6 months of follow-up. Conclusions: This study shows a possible underlying role of heterozygous MEFV gene mutation in the clinical course of some case of idiopathic MePGN, particularly in FMF endemic population