Abstract:
INTRODUCTION:Congenital nephrotic syndrome is usually presented with heavy proteinuria, hypoproteinaemia, oedema and hyperlipidaemia in a child from its birth until the age of 3 months. Aetiology of the disease is mutation in the relevant gene or it develops secondary to various infections. The most common form of congenital nephrotic syndrome is caused by mutation in gene for nephrin, the most important protein of the slit diaphragm. CASE OUTLINE:We present the patient with the clinical and laboratory signs of nephrotic syndrome expressed in the first day of life. Despite the adequate and regular substitution, antiproteinuric and antithrombotic therapy, complications occurred and the patient deceased. Genetic analysis revealed homozygous mutation in gene for nephrin (614del8ins2TT). Three years later, in the patient's mother who was in the 12th week of pregnancy at that time, biopsy of chorionic villi was performed and the foetal genetic material showed heterozygosity for the same recessive mutation which meant that the foetus had the status of a carrier. To the best of our knowledge, this is the first family in Serbia in which prenatal molecular--genetic testing for the congenital nephrotic syndrome was accomplished. CONCLUSION:We wish to stress the importance of molecular diagnosis in patients with congenital nephrotic syndrome in order to perform early prenatal diagnosis in future pregnancies.
journal_name
Srp Arh Celok Lekjournal_title
Srpski arhiv za celokupno lekarstvoauthors
Stajić N,Putnik J,Paripović A,Djurić S,Bogdanović Rdoi
10.2298/sarh08s4307ssubject
Has Abstractpub_date
2008-12-01 00:00:00pages
307-11eissn
0370-8179issn
2406-0895journal_volume
136 Suppl 4pub_type
杂志文章abstract::During the study of the pathological significance of circulating endothelin (ET) in acute renal failure (ARF) we measured ET in 7 children (mean age 8.8+4.4 years) with ARF in the most severe phase, and 3.7+3.5 months later in the recovery period. Twenty-seven healthy children (mean age 11.1+/- 6.3 years) were include...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1995-11-01 00:00:00
abstract:INTRODUCTION:Dyslexia represents a significant pediatric problem requiring prompt and appropriate treatment. OBJECTIVE:The aim of this study was to examine the significance of integral rehabilitation approach in treating dyslexia of children. METHODS:Objectives of the study were accomplished on a sample of 300 childr...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1210625s
更新日期:2012-09-01 00:00:00
abstract:UNLABELLED:Magnetic resonance imaging (MRI) has become the preferred imaging technique in multiple sclerosis (MS). Areas of increased signal (AIS) are detected on T2-weighted (T2W) pulse sequencies in 70-100% of patients with clinically definite MS. However, AIS similar to those seen in MS have also been described in h...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract:INTRODUCTION:Experience with lamivudine treatment for acute severe hepatitis B is limited. Fulminant hepatitis develops in 1% of immunocompetent patients with acute hepatitis B. OBJECTIVE:The aim of this study was to evaluate the efficacy of lamivudine in the treatment of severe acute hepatitis B (SAHB) in immunocompe...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1412703v
更新日期:2014-11-01 00:00:00
abstract:UNLABELLED:It is well known and described in literature that cardiac symptoms such as dyspnoea, palpitations and sometimes stenocardiac pain may develop in the course of anaemia. The incidence of electrocardiographic abnormalities varies significantly in different studies ranging from 10-80%. The study is aimed to dete...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1998-11-01 00:00:00
abstract:INTRODUCTION:Antibiotic prophylaxis means administration of antibiotics in prevention of infections. OBJECTIVE:To investigate the efficacy of a single dose preoperative administration of ceftriaxone and cefazolin in the prevention of intra- and postoperative infections in the parturients without high risk of inflammat...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1010600g
更新日期:2010-09-01 00:00:00
abstract::The study included 1,825 persons, aged from 18 to 65 years. A representative sample was formed of 1,325 persons who donated blood for the first time, and of 500 persons who donated blood five or more times till the moment of investigation. Among blood donors in the Republic of Serbia, regardless the number of blood do...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1991-07-01 00:00:00
abstract::Subtrochanteric fractures of the femur have a special place because of a significant number of complications following treatment. Powerful loading forces asymmetrically acting to this bone segment, as well as poor vascularization interfere with bone union. There are basically two current approaches in the fixation of ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:10.2298/sarh1108540v
更新日期:2011-07-01 00:00:00
abstract:INTRODUCTION:Ventricular septal rupture (VSR) in the acute myocardial infarction (AMI) is a rare but very serious complication, still associated with high mortality, despite significant improvements in pharmacological and surgical treatment. Therefore, hybrid approaches are introduced as new therapeutical options. CAS...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1404226r
更新日期:2014-03-01 00:00:00
abstract::Chiari pelvic osteotomy is a surgical procedure having been performed for almost sixty years in patients with the insufficient coverage of the femoral head. It is most frequently used in young patients with dysplastic acetabular sockets as a part of developmental hip dysplasia. Even though performance of the Chiari os...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:10.2298/sarh1310710s
更新日期:2013-09-01 00:00:00
abstract:INTRODUCTION:Nosocomial infections (NIs) are a serious health problem in hospitals worldwide and are followed by a series of consequences, medical, judicial, ethical and economic. OBJECTIVE:The main aim of this study was to assess the magnitude of NIs at the Clinical Centre in Kragujevac. METHODS:A prevalence study o...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1006337i
更新日期:2010-05-01 00:00:00
abstract::The authors studied the effect of working conditions and harmful organic solvents on the frequency of gynaecological diseases and menstrual disorders in 138 women. The experimental group consisted of 88 women exposed to evaporation and increased concentrations of organic solvents, and the control group was composed of...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1995-03-01 00:00:00
abstract:INTRODUCTION:Balkan endemic nephropathy (BEN) patients maintained with hemodialysis have more severe anemia than patients with other kidney diseases. OBJECTIVE:The aim of the study was to compare the improvement of anemia in BEN patients and those with other kidney diseases during treatment with human recombinant eryt...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1208456l
更新日期:2012-07-01 00:00:00
abstract::This paper is a continuing evaluation of dental and facial parameters in the estimation of aesthetic characteristic of fixed restorations. First of all, attention is paid to the phenomenon describing the tooth tissue's characteristics (translucency, opalescence, and transparency). The paper also discusses tooth colour...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:10.2298/sarh0506288o
更新日期:2005-05-01 00:00:00
abstract::Galea flap (GF) consists of two parts: Galea aponeurotica and superficial layer of temporal muscle. This flap is useful in plastic and reconstructive surgery of the defects of oral mucosa, lips, but also in reconstruction of orbital floor defects. Many authors have stressed that most of troubles in GF as reconstructio...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract:INTRODUCTION:Root coverage supported with complete regeneration of lost periodontal tissues represents the ultimate goal of gingival recession treatment. OBJECTIVE:This study was designed to evaluate clinical effectiveness of platelet rich plasma gel (PRP) with connective tissue graft (CTG) in the treatment of gingiva...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0804095a
更新日期:2008-03-01 00:00:00
abstract::Chronic renal failure (CRF) is almost always associated with high arterial blood pressure. Adequate control of hypertension slows down the progression of the disease, Inhibitors of angiotenzin-converting enzyme (ACE inhibitors) have proved to be very efficacious in decreasing high blood pressure. The aim of this study...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0204087t
更新日期:2002-03-01 00:00:00
abstract::Hernia repair is one of the most common surgical procedures performed in the United States, with 700,000 operations performed each year. Improvements in surgical technique, together with the development of new prosthetic materials and a better understanding of how to use them, have significantly improved outcomes for ...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:10.2298/sarh0302082m
更新日期:2003-01-01 00:00:00
abstract:INTRODUCTION:Diseases of the gastrointestinal system, and especially diseases of esophagus, are a rare cause of sudden unexpected death in any age group. Black esophagus is an acute necrotizing inflammation of the mucosa of the lower parts of esophagus, diffusely affecting its entire circumference. This inflammation co...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1402094n
更新日期:2014-01-01 00:00:00
abstract:INTRODUCTION:It has been shown that depolarization disorders, autonomic dysfunction, and systolic dysfunction of the left ventricle are associated with sudden cardiac death after myocardial infarction. OBJECTIVE:The objective of study was to examine the prognostic value of the most important predictors in the first we...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0612482m
更新日期:2006-11-01 00:00:00
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journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 临床试验,杂志文章
doi:
更新日期:1999-09-01 00:00:00
abstract::Spleen abscess is not frequent in children. It may be caused by haematogenous seeding of the spleen with bacteria from primary septic focus; by direct spread of infection from adjacent structures, or by secondary infection in an area of the spleen damaged by infarction, trauma or parasitic infestation. A 13-year-old g...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
abstract::Type and technique of anesthesia have an important effect on per operative surgical course. The aim of the study was prospective analyses of advantages of combined spinal, epidural and general anesthesia (CSEGA) versus general anesthesia (GA) in abdominal surgery according to: 1. operative course (haemodynamic stabili...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.2298/sarh0306232m
更新日期:2003-05-01 00:00:00
abstract:INTRODUCTION:Treatment of carotid stenosis could be surgical: eversion endarterectomy, conventional endarterectomy and patch-plasty, resection with graft interposition and bypass procedure or, in the past few years, carotid artery angioplasty (PTA) with stent implantation. OBJECTIVE:The aim of this study is to present...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0810494c
更新日期:2008-09-01 00:00:00
abstract:INTRODUCTION:The seroprevalence study was performed in Vojvodina during May and June 2010 in order to asses the effects of the 2009 pandemic influenza A(H1N1)v epidemic on herd immunity. It was a part of the Serbian Ministry of Health funded nationwide study. OBJECTIVE:Prevalence of antibodies against 2009 pandemic in...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:2012-11-01 00:00:00
abstract:Introduction:The anterior and middle superior alveolar nerve block was claimed to be unpredictably efficient for clinical application. Objective:The aim of this report was to establish the efficacy of the anterior and middle superior alveolar nerve block, applied with a computer-controlled injection system or a conven...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2016-09-01 00:00:00
abstract::Clinical presentation of excessive aldosterone secretion is often not specific. The presence of resistant severe hypertension (HT) and signs of hypokalemia is useful but inconsistent characteristic. Plasma aldosterone level in primary aldosteronism (PA) could be normal, although inappropriately high for a low plasma r...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章,评审
doi:10.2298/sarh1212800c
更新日期:2012-11-01 00:00:00
abstract::Etiopathogenesis of inflammatory processes of the urinary tract, mainly of obstructive uropathy and chronic pyelonephritis, is reviewed. The most frequent cause of obstruction is renal calculosis; in the pathogenesis of chronic pyelonephritis the following factors are of great importance: renal and urethral anomalies,...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:
更新日期:1990-09-01 00:00:00
abstract:INTRODUCTION:Reduced compound glutathione (GSH) in the lens has the function to protect the thiol group of lens proteins, and as a substrate of glutathione peroxidase (GPx) and glutathione S-transferase (GST). Protein containing thiol groups is significant for the normal function of lens epithelium, i.e. enzymes Na-K-A...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh1210563k
更新日期:2012-09-01 00:00:00
abstract:INTRODUCTION:An algorithm to study hand movements in patients with Parkinson's disease (PD) who experience temporary, involuntary inability to move a hand have been developed. In literature, this rather engimatic phenomenon has been described in gait, speech, handwriting and tapping, and noted as motor blocks (MB) or f...
journal_title:Srpski arhiv za celokupno lekarstvo
pub_type: 杂志文章
doi:10.2298/sarh0212376p
更新日期:2002-11-01 00:00:00