-
[show abstract]
[hide abstract]
ABSTRACT: Introduction: Isolated diffuse mesangial sclerosis (IDMS) is a histologically distinct variant of nephrotic syndrome with early onset and progression to end-stage kidney disease. Mutations in PLCE1, WT1 and LAMB2 genes may cause IDMS. Carriers of a WT1 mutation are at risk for the development of Wilm’s tumor and gonadoblastoma.
Methods and results: Our patient is a female, born from a normal pregnancy, healthy; BW 3900 g. Family history is unremarkable. At the age of 4 months proteinuria was detected during a febrile respiratory infection. When she was 8 months old, she was admitted to our Department and we found proteinuria (1.4 g/dU), hypogammaglobulinemia (IgG 0.83 g/l) and a patent foramen ovale. Ultrasound showed hyperechoic kidneys of normal size. Renal biopsy revealed diffuse mesangial sclerosis and multifocal nephroblastic proliferative lesions. Her karyotype is 46,XX,1qh+ (population variant). She has a WT1 mutation (Ex9: c.1165C>T), heterozygous. In the follow up period she received intravenous immunoglobulin and underwent ultrasound screening for tumors monthly. At the age of 3 years and 3 months she is a well developed girl, with normal blood pressure and without edema. Laboratory findings show non-selective glomerular proteinuria (2.47g/dU), hypoproteinemia (49 g/l), hypogammaglobulinemia (1.72 g/l) and hypercholesterolemia (9.1 mmol/l). Other findings are within reference ranges. There are no detectable expansive lesions at abdominal MRI and ultrasound examination.
Conclusions: Our patient has a favorable course of the disease so far. She has a persistent hypogammaglobulinemia in spite of substitution. Patients with IDMS do not respond to corticosteroid and immunosuppressive therapy. It was reported that one child with PLCE1 mutation responded to cyclosporine therapy. So, patients with IDMS should be tested for mutations to find those who might benefit from the therapy. Those with WT1 mutation should be carefully observed because of the risk of tumor development.
Pediatric Nephrology 09/2012; 27(9). · 2.52 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The pathogenesis of recurrent urinary tract infections (UTIs) in preschool children with anatomically correct urinary tract (UT) is rather obscure. In girls, the bladder wall changes of cystitis cystica (CC) may be per se responsible for UTIs recurrence. During the 20-year period, 127 preschool children (125 girls; median age: 6.1 years) with CC, in whom UT anomalies were excluded, were diagnosed. The mean duration of UTIs symptoms prior to diagnosis was 3.31±2.51 years. Cystoscopical findings were labelled as mild, moderate and severe in 22.8%, 39.4% and 37.8% of patients, respectively. Following the confirmation of CC, long-term chemoprophylaxis with sulfamethoxazole-trimethoprim/nitrofurantoin was administered. A one year UTI-free period after chemoprophylaxis discontinuation was defined as therapeutic success. With 2.5 years median duration of regular chemoprophylaxis this goal was achieved in 58 children mainly with mild/ moderate CC. Thirty children from »improved/unchanged« group taking regular prophylaxis had significant reduction of UTIs (»improved«). Only 12 children belonging to the same group taking regular prophylaxis and all children with irregular prophylaxis had approximately the same number of UTIs as before treatment (»unchanged«). The »improved/unchanged« outcomes were predominantly found in children with severe form of CC. Although urodynamic disturbances detected in more than 50% of patients in whom urodynamics was performed were not found influential on the disease outcome, they could be responsible for its development. The results of our study suggest that regular and long-lasting chemoprophylaxis remains a basis for successful treatment for majority of patients with CC, even those with severe forms. If not treated properly with chemoprophylactic agents and without fair compliance in taking drugs, the disease is prone to recurrent UTIs.
Collegium antropologicum 09/2010; · 0.61 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Growth factors from neural tissues have been described as potent mitogens for a wide variety of mesoderm- and ectoderm-derived cells in vitro. We used porcine brain extract for in vitro testing of proliferation properties on primary ovarian cells, uterine cells, and cardiomyocytes in culture as well as for BHK-21 [C-13] cell line. The addition of this extract accelerates proliferation in all examined cultures. It also lowers serum requirement and shortens the cultivation period for BHK-21 [C-13] cells. Fibroblast growth factors from brain of different species, but not porcine, are already characterized and their proliferative effect proved. Therefore, we purified, determined, and confirmed the presence of basic fibroblast growth factor in porcine brain extract by Western blot analysis and showed its biological activity on BHK-21 [C-13] cells.
In Vitro Cellular & Developmental Biology - Animal 10/2008; 45(1-2):28-31. · 1.31 Impact Factor
-
Danica Batinić,
Mira Sćukanec-Spoljar,
Danko Milosević,
Mirna Subat-Dezulović,
Marjan Saraga,
Jasna Delmis,
Zvonimir Puretić,
Andrea Cvitkovic-Kuzmić,
Natasa Skitarelić,
Marija Spajic, [......],
Kristina Vrljicak,
Maja Matković, Hrvoje Kniewald,
Danko Batinić,
Lana Grković,
Irena Borojević,
Sanja Flajsman,
Durdica Kosuljandić-Vukić,
Semsa Marić,
Danica Ljubanović
[show abstract]
[hide abstract]
ABSTRACT: There is little data on the spectrum of renal diseases in children in Croatia. The Croatian Society for Pediatric Nephrology has established the Registry of Biopsy-Proven Renal Diseases in an attempt to address this issue nationwide. Here we report preliminary results of a retrospective analysis of clinical and histopathological data of 565 children aged < or =17 years presenting to 9 hospitals in Croatia from 1991 to 2004, in whom kidney biopsy was performed. The most common indication for renal biopsy was nephrotic syndrome (39.1%), followed by asymptomatic proteinuria/hematuria (22.0%) and acute nephritic syndrome (17.0%). All biopsies were analysed by light-, immunofluorescent and electron microscopy. The majority of children, 552 out of 565 (92.4%), had glomerulonephritis (GN). Tubulointerstitial nephritis was found in 16 (2.8%), congenital renal parenchyma anomalies in 14 (2.5%) and vascular disease in 11 (1.9%) cases. One (0.2%) child had sarcoidosis with nephrocalcinosis. The sample was non-diagnostic in 1 (0.2%) case. Among children with GN, primary GN accounted for 70.9%, secondary GN for 16.1% and hereditary GN for 13.0% cases. The most frequent primary GN forms were focal segmental glomerulosclerosis (FSGS) (24.6%), mesangial proliferative glomerulonephritis (MEPGN) (19.2%) and IgA nephropathy (18.1%). Acute GN in resolution was found in 11.1% and minimal changes GN in 6.8% of cases. Most children with secondary GN had nephritis of Henoch-Schönlein purpura (HSP) (54.7%) and nephritis of systemic lupus erythematosus (SLE) (40.5%), while among hereditary GN Alport syndrome was most common (80.9%). In the group of children with primary GN who presented with nephrotic syndrome, most common forms were FSGS (38.5%) and MEPGN (24.0%). Minimal changes GN accounted for only 10.9% of cases. IgA nephropathy, primary or related to HSP (20.0%), FSGS (16.1%), MEPGN (12.6%) and Alport syndrome (9.7%) were the most common biopsy-proven renal diseases in Croatian children. The analysis provided data on the frequency of histological renal lesions in children in Croatia. The higher frequency of FSGS and MEPGN among Croatian children in comparison with other countries deserves further evaluation.
Acta medica Croatica: c̆asopis Hravatske akademije medicinskih znanosti 10/2007; 61(4):361-4.
-
[show abstract]
[hide abstract]
ABSTRACT: Cystic cystitis is a separate form of urinary bladder inflammation, detected by cystoscopy in children with recurrent urinary infections. Cystoscopy is an invasive method, so the aim of this investigation was to determine the ultrasonographic characteristics of cystic cystitis and to assess the reliability of ultrasound in relation to cystoscopy in diagnosing cystic cystitis. The study included 115 girls with repeated urinary infections. Cystoscopy and ultrasonography was performed in all. According to the cystoscopic finding the subjects were divided into 4 groups. Lateral and posterior urinary bladder wall thickness was measured during ultrasonography. A statistically significant difference was found between all 4 groups, the method demonstrated a high degree of sensitivity (0.97) and specificity (0.91). Percentile calculations were determined for wall thickness. Ultrasonography can replace endoscopy in diagnosis and follow-up of cystic cystitis in children, with at least 50% fullness of the urinary bladder as a prerequisite.
Collegium antropologicum 07/2006; · 0.61 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We conducted a retrospective study at the Department of Paediatric Cardiology of the University Hospital Centre Rebro, Zagreb, over the period from 1988 to 1998, so as to assess the epidemiology of childhood cardiomyopathies. The patients were categorized according to the guidelines of the Task Force on Cardiomyopathies of the World Health Organization and the International Society and Federation of Cardiology. We identified 121 infants, children and adolescents as having cardiomyopathy, giving an average occurrence for all cardiomyopathies of 38.81 for each 10,000 patients examined in our outpatient clinics for paediatric cardiology. Of the patients, 50 were female (41.3%) and 71 were male (58.7%). The cardiomyopathy was of the dilated variant in 52 patients (42.9%), with 43 patients (35.5%) having hypertrophic cardiomyopathy, and 6 patients (4.8%) identified with restrictive cardiomyopathy. We encountered no patients with arrhythmogenic right ventricular cardiomyopathy. In nine patients (7.4%), it proved impossible to classify the cardiomyopathy. We placed 11 patients (9.0%) in the group of specific cardiomyopathies. Most of those with dilated cardiomyopathy had been diagnosed prior to the age of 3 years (RR 1.9, 95% CI 1.4-2.47). There were no statistically significant differences in the incidences of dilated as compared to hypertrophic cardiomyopathy (Z 0.923, p = 0.1779), but we encountered a significantly lower occurrence of restrictive cardiomyopathy (Z 6.044, p < 0.001). Of those with hypertrophic cardiomyopathy, 15 patients (34.8%) had the asymmetric variant, while 28 patients (65.2%) exhibited the concentric form. During the period of follow-up, 10 patients died, 4 with dilated cardiomyopathy, 4 with hypertrophic cardiomyopathy, 1 with restrictive cardiomyopathy, and 1 with a specific cardiomyopathy. We encountered 12 (9.9%) patients who, besides cardiomyopathies, also suffered from neuromuscular disorders. Most of these had dilated cardiomyopathy. Mitochondrial disorders, in contrast, were more frequently found in patients with hypertrophic cardiomyopathy.
Cardiology in the Young 05/2002; 12(3):253-9. · 0.76 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: The purpose of this work was to show the importance of myocardial bioptate analysis using different methods in the diagram of diagnostic flow in primary cardiomyopathies in children. According to the guidelines of the Task Force on Cardiomyopathies of the WHO/ISFC, we identified 121 children (50 f and 71 m) as having cardiomyopathy, giving an average occurrence for all cardiomyopathies of 38.81 for each 10,000 pts examined in our outpatient clinics for paediatric cardiology. The dilated cardiomyopathy (DCM) was identified in 52 pts (42.9%), hypertrophic cardiomyopathy (HCM) in 43 pts (35.5%) and restrictive cardiomyopathy (RCM) in 6 pts (4.8%). We placed 11 pts (9.0%) in the group of specific cardiomyopathies. In nine pts (7.4%), it was impossible to classify the cardiomyopathy. Most of those with DCM had been diagnosed prior to the age of 3 years (RR 1.9, 95% CI 1.4-2.47). There were no statistically significant differences in the incidences of DCM as compared to HCM (Z 0.923, p < 0.1779), but we encountered a significantly lower occurrence of RCM (Z 6.044, p < 0.001). The biopsy of endocardium and myocardium was done to confirm the etiology of primary cardiomyopathy in 22 pts, 12 m and 10 f, age 1 to 17 (average age 9.5y). The bioptates were analysed by light microscope (Dallas criteria) in all pts, 13 bioptates by direct immunofluorescence, 8 by immunohystochemical method (two hystochemically by the method of coloring with Kongo red, one by the microscopy in polarised light), 7 by electron microscope, and 5 by PCR method where DNA and RNA of cardiotrophic viruses was used. Out of 10 pts with DCM, in 4 myonecrosis as a consequence of acute myocarditis and in 6 signs of late inflammatory processes, as a consequence of chronic immunologic myocarditis, were found. In 4 of them rebiopsy proved complete healing. In 5 pts with HCM the diagnosis was confirmed hystologically. One bioptate was analysed by electron microscope to rule out mitochondriopathy. Out of 4 pts with RCM due to inflammation, in 3 pathohistological findings proved diagnosis and in one showed primary amyloidosis. In one patient pathohystological finding showed fibroelastosis. In one patient heart tumor (fibroma) has been found.
Lijec̆nic̆ki vjesnik 126(9-10):227-34.
-
[show abstract]
[hide abstract]
ABSTRACT: The study deals with the incidence and clinical significance of mitral valve prolapse in the population of outpatient pediatric cardiology patients in the time period from November 1999 to April 2004. The sample included 1187 children of both sexes, 688 of whom had a structural cardiac anomaly (57.9%), and the prolapse was diagnosed in 51 children (4.3%), largely female (f:m = 7.5:1). The average age at establishing diagnosis was 12.4 +/- 2.9 years (range 6-19 years). The children were followed 3.1 +/- 0.9 years (1-4 years of age). In 25 children (49%) associated mitral valve insufficiency was found, mostly of the 1st degree (80%). During follow up, neither the progression of the insufficiency nor any other complication was observed (arrhytmia, tromboembolism) in any of the children. Dolichostenomely was found in 10 children (19.6%), and both the development of insufficiency (p = 0.464, df = 2, chi2 = 1.54) and the difference in constitution (p = 0.766, df = 4, chi2 = 1.83) were irrelevant of sex. Typical subjective symptoms were observed in 37 children (72.5%), 22 of whom were treated with beta-blockers (propranolol) (43.1%). The average age of the patients treated with 3-blockers (13.7 +/- 2.5 yr) was statistically different from the average age of untreated patients (11.5 +/- 2.9 yr), hence the probability of the influence of neurohormonal factors on the development of subjective symptoms in advanced puberty (p = 0.006, t = -2.86). The most common clinical symptom is chest-pain (95% of the group with stronger symptoms). When treated, the symptoms disappear in 82% of the patients. Mitral valve prolapse is the entity of favourable clinical course. The prophylaxis of infective endocarditis should be performed in the group with mitral insufficiency, and the children with stronger symptoms should be treated with beta-blockers.
Lijec̆nic̆ki vjesnik 129(6-7):181-5.
-
Silvija Hunyadi-Anticević,
Zeljko Colak,
Ines Lojna Funtak,
Anita Lukić,
Boris Filipović-Grcić,
Branka Tomljanović, Hrvoje Kniewald,
Alen Protić,
Tatjana Pandak,
Zdravka Poljaković,
Marino Canadija
[show abstract]
[hide abstract]
ABSTRACT: BASIC LIFE SUPPORT: All rescuers trained or not, should provide chest compressions to victims of cardiac arrest. The aim should be to push to a depth of at least 5 cm at a rate of at least 100 compressions per minute, to allow full chest recoil, and to minimise interruptions in chest compressions. Trained rescuers should also provide ventilations with a compression-ventilation ratio of 30:2. ELECTRICAL THERAPIES: Much greater emphasis on minimising the duration of the pre-shock and post-shock pauses; the continuation of compressions during charging of the defibrillator is recommended. Further development of AED programmes is encouraged. ADULT ADVANCED LIFE SUPPORT: Increased emphasis on high-quality chest compressions throughout any ALS intervention paused briefly only to enable specific interventions. Removal of the recommendation for a pre-specified period of cardiopulmonary resuscitation before out-of-hospital defibrillation following cardiac arrest unwitnessed by the EMS. The role of precordial thump is de-emphasized. Delivery of drugs via a tracheal tube is no longer recommended, drugs should be given by the intraosseous (IO) route. Atropine is no longer recommended for routine use in asystole or pulseless electrical activity. Reduced emphasis on early tracheal intubation unless achieved by highly skilled individuals with minimal interruptions in chest compressions. Increased emphasis on the use of capnography. Recognition of potential harm caused by hyperoxaemia. Revision of the recommendation of glucose control. Use of therapeutic hypothermia to include comatose survivors of cardiac arrest associated initially with shockable rhythms, as well as non-shockable rhythms, with a lower level of evidence acknowledged for the latter. INITIAL MANAGEMENT OF ACUTE CORONARY SYNDROMES: The term non-ST-elevation myocardial infarction-acute coronary syndrome (non-STEMI-ACS) has been introduced for both NSTEMI and unstable angina pectoris. Primary PCI (PPCI) is the preferred reperfusion strategy provided it is performed in a timely manner by an experienced team. Non-steroidal anti-inflammatory drugs should be avoided, as well as routine use of intravenous beta-blockers; oxygen is to be given only to those patients with hypoxaemia, breathlessness or pulmonary congestion. PAEDIATRIC LIFE SUPPORT: The decision to begin resuscitation must be taken in less than 10 seconds. Lay rescuers should be taught to use a ratio of 30 compressions to 2 ventilations, rescuers with a duty to respond should learn and use a 15:2 ratio; however, they can use the 30:2 compression-ventilation ratio if they are alone. Ventilation remains a very important component of resuscitation in asphyxial arrest. The emphasis is on achieving quality compressions with the rate of at least 100 but not greater than 120 per minute, with minimal interruptions. AEDs are safe and successful when used in children older than 1 year. A single shock strategy using a non-escalating dose of 4 J/kg is recommended for defibrillation in children. Cuffed tubes can be used safely in infants and young children. Monitoring exhaled carbon dioxide (CO2), ideally by capnography, is recommended during resuscitation. RESUSCITATION OF BABIES AT BIRTH: For uncompromised babies, a delay in cord clamping of at least one minute from the complete delivery is now recommended. For term infants, air should be used fro resuscitation at birth. For preterm babies less than 32 weeks gestation blended oxygen and air should be given judiciously and its use guided by pulse oximetry. Preterm babies of less than 28 weeks gestation should be completely covered in a plastic wrap up to their necks, without drying, immediately after birth. The recommended compression: ventilation ratio remains at 3:1 for newborn resuscitation. Attempts to aspirate meconium from the nose and mouth of the unborn baby, while the head is still on the perineum, are not recommended. If adrenaline is given the n the intravenous route is recommended using a dose of 10-30 microg/kg. Newly born infants born at term or near-term with moderate to severe hypoxic-ischaemic encephalopathy should be treated with therapeutic hypothermia. PRINCIPLES OF EDUCATION IN RESUSCITATION: The aim is to ensure that learners acquire and retain skill and knowledge that will enable them to act correctly in actual cardiac arrest and improve patient outcome. Short video/computer self-instruction courses, with minimal or no instructor coaching, combined with hands-on practice can be considered as an effective alternative to instructor-led basic life support (BLS and AED) courses. Ideally all citizens should be trained in standard CPR that includes compressions and ventilations. Basic and advanced life support knowledge and skills deteriorate in as little as three to six months. CPR prompt or feedback devices improve CPR skill acquisition and retention.
Lijec̆nic̆ki vjesnik 133(1-2):1-14.
-
[show abstract]
[hide abstract]
ABSTRACT: The goal of our study was to show an increase in the number of interventional heart catheterisations in the last 14 years in the Referral Centre for Pediatric Cardiology of the Republic of Croatia. From January 1996 to December 2009 2379 children (51% male and 49% female) underwent invasive diagnostic procedures (mean age 4.1+3.8 years, range 1 day-20.5 years). In that period in 22.27% (2379/530) of the children a certain interventional procedure was performed. The number of interventional catheterisations increased from 20/160 (12.5%) in 1996 to 70/224 (31.25%) in 2009. Some interventional procedures were introduced before 1996 (Rashkind BAS, dilatation of pulmonary valve stenosis and myocardial biopsy), while other methods were introduced in the following order: dilatation of critical aortic stenosis in newborns and other ages from 1996, ductus Bottali closure from 1997, interatrial septal defect closure from 2000, native coarctation and recoarctation of the aorta from 2003. Of 530 interventional catheterisations involved in the study during the period of 14 years, there were 140 atrioseptostomias (26.4%), 80 pulmonary valve dilatations (15.1%), 58 aortic valve dilatations in older children (6.8%), 9 dilatations of critical aortic stenosis (1.7%), 58 dilatations of coarctation (10.9%) (of which 32 native and 26 recoarctations), 133 ductus Botalli closures (25.1%) (4 with PFM coils, 68 with Cook coils and 61 with Amplatzer Duct occluder). From 2000 interatrial septal defects were closed in 37 patients, 14 of which were closed with Cardioseal-STARflex system (37.84%) and 23 with Amplatzer device (62.16%). Myocardial biopsy was performed in 37 patients (7%) with 4-5 endomyocardial samples per patient (mainly from the left ventricle) so that we had 120 heart samples in total for further analysis. Hi2-test determined a constant rise in catheterisations in relation to the mean number (p<0.05) except for the years 1997 and 1998 when it was significantly lower than the average. A positive trend in the increase of interventional catheterisations was determined (p<0.005). The share of interventional catheterisations compared to diagnostic catheterisations was found to have statistically significantly increased (p<0.05) from 1996 to 2009. We conclude that in the observed period there is a slight increase in the overall number of catheterisations and a more intense increase of interventional catheterisations, particularly after 1999.
Lijec̆nic̆ki vjesnik 133(7-8):241-9.
-
[show abstract]
[hide abstract]
ABSTRACT: Here is presented a rare case of spontaneous closure of a fistula between the right coronary artery and the right ventricle in a female infant. At the age of 7 days continuous murmur intensity 3/6 was registered in the 3rd intercostal space along the right sternal border. Echocardiography indicated, with high probability, a coronary artery fistula. Definitive diagnosis was made at the age of 1 month with aortography. Radioscintiography and oximetric analysis revealed 47% of left-to-right shunting at level of fistula. Because of the size of the shunting a surgical correction had been planned, but in the mean-time the murmur had gone. At the age of 6 months control aortography showed spontaneous closure of the fistula, but with significant morphological changes in the right coronary artery (stenosis and aneurysms). The exact mechanism of spontaneous closure is unknown, as is the timing of therapeutic intervention. Control coronary angiography after 1 year showed the regression of pathological changes in the right coronary artery. Based on the literature and our own experiences we consider invasive therapy indicated in children with significant clinical symptoms. In cases were clinical symptoms are absent expectative state should be taken, because there is a chance of spontaneous closure of fistulas, even larger ones, as it is in our case.
Lijec̆nic̆ki vjesnik 131(3-4):65-8.
