当前位置： SCI文献检索 > Vojnosanitetski Pregled期刊下所有文献 > Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Abstract：

BACKGROUND/AIM:Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy. The aim of this study was to determine association between the SMN2 gene copy number and disease phenotype in Serbian patients with SMA with homozygous deletion of exon 7 of the SMN1 gene. METHODS:The patients were identified using regional Serbian hospital databases. Investigated clinical characteristics of the disease were: patients' gender, age at disease onset, achieved and current developmental milestones, disease duration, current age, and the presence of the spinal deformities and joint contractures. The number of SMN1 and SMN2 gene copies was determined using real-time polymerase chain reaction (PCR). RESULTS. Among 43 identified patients, 37 (86.0%) showed homozygous deletion of SMN1 exon 7. One (2.7%) of 37 patients had SMA type I with 3 SMN2 'copies, 11 (29.7%) patients had SMA type II with 3.1 +/- 0.7 copies, 17 (45.9%) patients had SMA type III with 3.7 +/- 0.9 copies, while 8 (21.6%) patients had SMA type IV with 4.2 +/- 0.9 copies. There was a progressive increase in the SMN2 gene copy number from type II towards type IV (p < 0.05). A higher SMN2 gene copy number was associated with better current motor performance (p < 0.05). CONCLUSION:In the Serbian patients with SMA, a higher SMN2 gene copy number correlated with less severe disease phenotype. A possible effect of other phenotype modifiers should not be neglected.

journal_name

Vojnosanit Pregl

journal_title

Vojnosanitetski pregled

authors

Zarkov M,Stojadinović A,Sekulić S,Barjaktarović I,Perić S,Keković G,Drasković B,Stević Z

doi

10.2298/vsp140328072z

subject

Has Abstract

pub_date

2015-10-01 00:00:00

pages

859-63

issue

10

eissn

0042-8450

issn

2406-0720

journal_volume

72

pub_type

杂志文章

相关文献

Vojnosanitetski Pregled文献大全
  • [Immunohistochemical analysis of alpha-SMA and GFAP expression in liver stellate cells].

    abstract：BACKGROUND/AIM:Liver stellate cells play an important role in hepatic fibrosis, and its progression to cirrhosis. These cells show immunoreactivity with different monoclonal antibodies amongst which the commonest are alpha-smooth muscle actin (alpha-SMA) and glial fibrillary acid protein (GFAP). The aim of this study w...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0606553t

    authors： Tomanović N,Boricić I,Brasanac D

    更新日期：2006-06-01 00:00:00

  • Prevalence of hypertension in adults in the Sumadija district, Serbia -a cross-sectional study.

    abstract：BACKGROUND/AIM:World Health Organization (WHO) studies on the global level have shown that one of the major problems of the public health is hypertension. Blood pressure level greater than 140/90 mmHg is directly and predictively linked to other cardiovascular diseases. The aim of this research was to determine the pre...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章,多中心研究

    doi：10.2298/vsp120423057m

    authors： Marinković M,Ilić N,Djokić D,Andrejević V,Damjanović G,Samardzić G,Tufegdzić S,Vucić-Janković M

    更新日期：2014-03-01 00:00:00

  • Experimental closure of gunshot wounds by fibrin glue with antibiotics in pigs.

    abstract：BACKGROUND/AIM:Gunshot wounds caused by the automatic rifle M70AB2 (AK-47) 7.62 mm, after the primary surgical management, were closed with delayed primary suture during the next four to seven days. This period coincides with the fibroblastic phase of wound healing. Fibrin glue is used as a local hemostatic and as a ma...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp131106050d

    authors： Djenić N,Višnjić M,Dragović S,Bojanić V,Bojanić Z,Djurdjević D,Djindjić B,Kostov M

    更新日期：2015-09-01 00:00:00

  • Immunohistohemical evidences of pregnancy in uterine curettage tissue by the use of a double immunocytochemical staining technique using cytokeratin 7 and vimentin antibodies.

    abstract：BACKGROUND/AIM:Usual histopatological diagnosis of intrauterine pregnancy is made by demonstration of chorionic villi, but in the curettage tissue from intrauterine miscarriage they may not be present in all cases. The use of monoclonal antibody against cytokeratin as a sensitive and reliable marker for the morphologic...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0811810t

    authors： Trenkić M,Basić M,Milentijević M,Petrović A,Zivković V,Lazarević V

    更新日期：2008-11-01 00:00:00

  • Erosive pustular dermatosis of the scalp-is it really a rare condition?

    abstract：INTRODUCTION:Erosive pustular dermatosis of the scalp (EPDS) is a rare disorder of unknown etiology that usually occurs in the elderly and is characterised by multiple pustules, erosions and crusts that appear on the scalp leading to scarring alopecia. The histopathology and laboratory tests are not specific which is t...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp120216053l

    authors： Levakov O,Gajić B

    更新日期：2014-03-01 00:00:00

  • [Significance of inflammatory cytokines in the pathogenesis of IgA nephropathy].

    abstract：:Prospective study was performed on the concentrations of inflammatory cytokines IL-1, TNF and IL-6 in serum and urine (ELISA tests) were determined in the scope of total clinical-laboratory and histologic treatment in 59 patients with primary IgA nephropathy. Control group consisted of 20 healthy subjects. IL-6 was no...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Maksić D,Spasić P,Dimitrijević J,Colić M,Hrvacević R,Kovacević Z,Marić M

    更新日期：1998-03-01 00:00:00

  • The assessment of the stability of the corneal structure after LASIK correction of myopia by different optical zone diameters.

    abstract：BACKGROUND/AIM:Enlargement of optical zone (OZ) diameter during laser in situ keratomileusis (LASIK) correction of myopia postoperatively improves the optical outcome, however, it also leads to the increased stroma tissue consumption--progressive corneal thinning. The aim of this investigation was to present the possib...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp140627029m

    authors： Milivojević M,Petrović V,Vukosavljević M,Marjanović I,Resan M

    更新日期：2016-06-01 00:00:00

  • [Hormonal status in patients with advanced prostatic cancer on the therapy with androgen blockade].

    abstract：BACKGROUND/AIM:Hormone suppression therapy is used in men with advanced prostate cancer improving chances of longer survival. The aim of this study was to investigate the influence of androgen blockades on testosterone and luteinizing hormone (LH) values in patients with locally advanced and metastatic prostatic cancer...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp1104321v

    authors： Vojinov S,Levakov I,Jeremić D,Zivojinov S,Marusić G

    更新日期：2011-04-01 00:00:00

  • [The effect of the oxime HI-6 on miosis induced by topical administration of sarin and VX in the rabbit eye].

    abstract：:Effect of oxime HI-6 to rabbit miosis induced by the topical sarin and VX administration is presented. It has been found that effects of both toxins are better antagonized by parenteral than by topical HI-6 administration. The sarin antagonizing effect was found more effective. It has been also confirmed that there wa...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Macić I,Vojvodić V,Knezević D,Maksimović M

    更新日期：1990-11-01 00:00:00

  • [The site for esophageal transection in the treatment of hemorrhage from dilated esophageal veins].

    abstract：:Esophageal stapler transection was performed in 15 patients with bleeding from the dilated esophageal veins in the period 1984-1988. In 7 patients operated on as urgent cases due to prolonged uncontrolled bleeding, the mortality was high--71.4%, contrary to the group of electively operated patients in whom the mortali...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Duknić M,Cuk V

    更新日期：1990-01-01 00:00:00

  • Histomorphometric evaluation of bone regeneration using autogenous bone and beta-tricalcium phosphate in diabetic rabbits.

    abstract：Background/Aim:The mechanism of impaired bone healing in diabetes mellitus includes different tissue and cellular level activities due to micro- and macrovascular changes. As a chronic metabolic disease with vascular complications, diabetes affects a process of bone regeneration as well. The therapeutic approach in bon...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/VSP151125013Z

    authors： Živadinović M,Andrić M,Milošević V,Manojlović-Stojanoski M,Prokić B,Prokić B,Dimić A,Ćalasan D,Brković B

    更新日期：2016-12-01 00:00:00

  • [Early complications following radical surgical treatment of patients with gastric adenocarcinoma].

    abstract：BACKGROUND/AIM:Surgical treatment of patients with gastric adenocarcinoma means the total excision of a tumor and the pathways of its spreading with the risk of operational complications as low as possible. The aim of this study was to evaluate the type and frequency of early postoperative complications and mortality a...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0603249k

    authors： Kostić Z,Cuk V,Ignjatović M,Usaj-Knezević S

    更新日期：2006-03-01 00:00:00

  • [Radiotherapy of local recurrence of rectal carcinoma].

    abstract：:In retrospective, non-randomized study were analyzed 45 patients with local recurrences of rectal carcinoma treated by combined external beam radiotherapy (EBRT) and "High dose rate (HDR) remote afterloading" brachytherapy in the period from January 1st, 1988 to May 1st, 1988. Depending on the localization of the loca...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Radosević-Jelić Lj,Durbaba M,Sćepanović D,Pekmezović T,Stanković J

    更新日期：1998-11-01 00:00:00

  • Rare locations of metastastatic renal cell carcinoma: a presentation of three cases.

    abstract：INTRODUCTION:Metastatic renal cell carcinoma (RCC) frequently spreads not only to neighboring lymph nodes, but also to distant organs, including the lungs, liver, bones and brain. CASE REPORT:We presented three cases of RCC with colon metastasis. In the first, 63-year-old patient, after left nephrectomy followed with ...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp120515014m

    authors： Milović N,Lazić M,Aleksić P,Radovanović D,Bancević V,Savić S,Stamenković D,Spasić D,Kosević B,Perović D,Jovanović M

    更新日期：2013-09-01 00:00:00

  • [Importance of personality traits and psychosocial factors for the development of coronary heart disease].

    abstract：BACKGROUND/AIM:Numerous studies have provided clear and convincing evidence that psychosocial factors contribute to the pathogenesis and expression of coronary heart disease (CHD). These factors have been related to the following psychosocial domains: personality factors and character traits, depression, anxiety, socia...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0602153j

    authors： Jovanović D,Jakovljević B,Paunović K,Grubor D

    更新日期：2006-02-01 00:00:00

  • Relationship of adipokine to insulin sensitivity and glycemic regulation in obese women--the effect of body weight reduction by caloric restriction.

    abstract：BACKGROUND/AIM:Visceral fat is highly active metabolic and endocrine tissue which secretes many adipokines that act both on local and systemic level. It is believed that adipokines and "low-grade inflammatory state" represent a potential link between obesity, metabolic syndrome, insulin resistance and cardiovascular di...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp1303284v

    authors： Golubović MV,Dimić D,Antić S,Radenković S,Djindjić B,Jovanović M

    更新日期：2013-03-01 00:00:00

  • Quantification of mast cells in different stages of periodontal disease.

    abstract：BACKGROUND/AIM:Mast cells are mononuclear cells originating from bone marrow. They produce various biologically active substances, which allow them to actively participate in immune and inflammatory processes associated with periodontal disease. The study focused on distribution and density of mast cells in healthy gin...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp141222030m

    authors： Marjanović D,Andjelković Z,Brkić Z,Videnović G,Šehalić M,Matvjenko V,Leštarević S,Djordjević N

    更新日期：2016-05-01 00:00:00

  • [Reliability of Cobas Amplicor PCR test in detection of Mycobacterium tuberculosis in respiratory and nonorespiratory specimens].

    abstract：BACKGROUND/AIM:Traditional methods for detection of mycobacteria, such as microscopic examination for the presence of acid-fast bacilli and isolation of the organism by culture, have either a low sensitivity and/or specificity, or take weeks before a definite result is available. Molecular methods, especially those bas...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0912992l

    authors： Lepsanović Z,Savić D,Tomanović B

    更新日期：2009-12-01 00:00:00

  • Major risk factors of maternal adverse outcome in women with two or more previous cesarean sections.

    abstract：Background/Aim:Maternal morbidity is defined as any condition that is attributed to or aggravated by pregnancy and childbirth that has a negative impact on the woman's wellbeing. In recent years, a growing trend of cesarean section rates can be seen throughout the world. The aim of this study was to assess factors that...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/VSP150428055E

    authors： Egić A,Karadžov-Orlić N,Mojović D,Milovanović Z,Vučeljić J,Krsmanović S

    更新日期：2016-08-01 00:00:00

  • [Effect of aging on visual evoked potentials].

    abstract：:Experimental and clinical studies, aiming to establish the influence of aging on latence, amplitude and types of waves of visual evoked potentials (VEP) are numerous. It was concluded that P-100 latence prolonged with aging, particularly after the age of 55, while P-100 amplitude had been gradually decreased during th...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Aleksić P,Raicević R,Stamenković M,Djordjević D

    更新日期：2000-05-01 00:00:00

  • [Total intravenous anesthesia with propofol with midazolam coinduction--the anesthesia of choice in cataract surgery].

    abstract：:Comparative clinical investigation was performed in 80 ASA I/II patients undergoing cataract surgery on one eye. Patients were randomly divided in to four groups, according to the method of anesthesia. Intraoperatively (T0-T6), decreasing of intraocular pressure (IOP) to the optimal values at the start of the operatio...

    journal_title：Vojnosanitetski pregled

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：

    authors： Romić P

    更新日期：2000-03-01 00:00:00

  • Oxidative stress and Parkinson's disease.

    abstract：:The aim of this study was to determine the baseline state of oxidative stress indices in drug-naive patients with Parkinson's disease (PD). Cerebrospinal fluid (CSF) and peripheral blood samples of 31 subjects, in disease stages I-III, according to Hoehn & Yahr scale, were analyzed and compared with the control group....

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Ilić T,Jovanović M,Jovicić A,Tomović M

    更新日期：1998-09-01 00:00:00

  • Reconstruction of a face destroyed by an explosion.

    abstract：:We have followed up the course of the facial reconstruction in a 12 year old boy with totally destroyed middle and lower third of the face when the fuse for initial mine activation exploded in his mouth. The boy has undergone more than 20 operations within the 7-year period and his rehabilitation has not been complete...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Cvetinović M

    更新日期：1997-07-01 00:00:00

  • [Thoracic surgery in solving enormous elevation of the left hemidiaphragm].

    abstract：BACKGROUND:Acquired elevation of the diaphragm is mostly the result of phrenic nerve paralysis, some of thoracic and abdominal patological states, and also some of neuromuscular diseases. Surgical treatment is rarely performed and is indicated when lung compression produces disabilitating dyspnea, and includes plicatio...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0704279c

    authors： Cvijanović V,Stanić V,Ristanović A,Gulić B,Durković S,Stamenović D,Marić N,Kovacević S

    更新日期：2007-04-01 00:00:00

  • [Autologous spongious iliac bone graft in the treatment of ununited diaphyseal fractures of the long bones].

    abstract：:In the treatment of ununited diaphyseal fractures the authors stick to three basic principles: rigid fragment stabilization, reduced fracture split and osteogenous stimulus addition. A multiple autologous spongious iliac bone graft was used as an ostogenous stimulus. This method was applied in 47 patients within the p...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Jovanović Z,Popović Z,Mircić M

    更新日期：1989-05-01 00:00:00

  • [Evaluation of the level of depression and dementia in patients with primary chronic active epilepsy using the Dementia Mood Assessment Scale].

    abstract：:The study included 40 patients, aged 18-40 years with primary chronic active epilepsy, tested by clinical DMAS scale. We have found that the level of intelectual function damage (dementia) and mood (depression) rates depended on the long duration of epilepsy and the frequency of seizures, less on the frequency of spec...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Djokić G,Milović-Vujković M,Tomović M,Makević M

    更新日期：1998-07-01 00:00:00

  • [Frequency of metastatic tumors in the heart].

    abstract：INTRODUCTION:Secondary or metastatic tumors in the heart occur more frequently than primary ones, and, according to the published series, their frequency found in autopsic material ranges from 1.6% to 20.6%. Metastatic tumors in the heart are rarely clinically symptomatic, and, therefore, they are rarely diagnosed with...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp0512915r

    authors： Rafajlovski S,Tatić V,Ilić S,Kanjuh V

    更新日期：2005-12-01 00:00:00

  • [Manufacture of tetracaine hydrochloride tablets using direct compression and moist granulation].

    abstract：:The results of quality testing of lozenges made by direct compression and by wet granulation procedure (Ph. Jug. IV) are presented. The aim was to determine hardness, friability and disintegration of the lozenges. Considering the fact that the produced tetracaine hydrochloride lozenges were not transported, but were m...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Gazikalović E,Obrenović D,Nidzović Z,Colić O

    更新日期：2002-11-01 00:00:00

  • [Association of risk factors for cerebral atherosclerosis in patients with acute ischemic brain disease].

    abstract：:Atherosclerosis is the primary disease in the majority of patients with ischemic brain disease (IBD). Etiopathogenesis of atherosclerosis has not been more precisely defined, but risk factors significant for its generation and development, so as for IBD development, have been identified. They were designated as risk f...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：

    authors： Raicević,Jovicić A,Veljancić D,Djordjević D,Cedić V,Dindić E,Jović P

    更新日期：1998-05-01 00:00:00

  • Hepcidin and iron metabolism disorders in patients with chronic kidney disease.

    abstract：BACKGROUND/AIM:[corrected] Hepcidin may play a pathogenetic role in iron metobolism disorders. The aim of this study was to determine the correlation between hepcidin concentration and parameters of iron metabolism in patients with different stage of chronic kidney disease (CKD). METHODS:The study involved 104 patient...

    journal_title：Vojnosanitetski pregled

    pub_type： 杂志文章

    doi：10.2298/vsp1304368j

    authors： Jelić M,Cvetković T,Djordjević V,Damnjanovć G,Vlahović P,Kocić G,Djindjić N,Jovović B,Antić A

    更新日期：2013-04-01 00:00:00