RESUMO
The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.
RESUMO
This article presented the analysis of structure of morbidity of cardiorheumatological diseases at Pediatric's Clinic Sarajevo, before and during the war. The results showed that number of acquired heart diseases has not decreased, with permanent presence of streptococci.
Assuntos
Artrite Reumatoide/epidemiologia , Cardiopatias Congênitas/epidemiologia , Febre Reumática/epidemiologia , Guerra , Bósnia e Herzegóvina/epidemiologia , Criança , HumanosRESUMO
In 25 patients, 13 boys and 12 girls, median age 5.5 years, in 1990-2000, surgical reparation of their heart defects were performed. Median age of diagnostic Tetralogy of Fallot was 3.2 months, range 1 day-2 years. Anoxic spells were present in three patients. Ten patients (median age 3 years, range 3 months-10 years) initially palliated with a modified Blalock-Taussig shunt, underwent a reparation at a median of 4.5 years after palliation. Median follow up was 4.2 years, range 3 months-10 years. The 30-day mortality rate was 16%. Mean right ventricular outflow tract gradient on echocardiography was 20.20 +/- 4.78, and mean oxygen saturation was 96% +/- 1.3. Two patients had non significant residual ventricular septal defect with left to right shunt, 7 right ventricular enlargement and almost all mild pulmonary regurgitation. Also two patients had Blalock-Taussig shunt's thrombosis. Before surgical reparation, one boy showed pulmonary valve's endocarditis. Complete atrioventricular block has been developed on one girl. No patient required reintervention during follow up and there was no late mortality. Almost all of our patients were asymptomatic, had normal activity, regularly exercised and some of them participated in school sport programs. Complete correction of Tetralogy of Fallot showed good results with normal life expectancy for the patients.
Assuntos
Tetralogia de Fallot/cirurgia , Pré-Escolar , Ecocardiografia , Eletrocardiografia , Feminino , Seguimentos , Humanos , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Tetralogia de Fallot/fisiopatologiaRESUMO
During April 1997 to October 2000, 65 children (61.5% female and 38.5% male) have been operated at KCU Sarajevo at the Hospital for Cardiac surgery. Diagnostic procedures, preoperative and postoperative treatment have been carried out at Pediatric hospital, Clinical center University of Sarajevo. The average age of establishing the diagnosis was 20 months and 4.5 years was the average age of surgical treatment. The most frequent defects were: Atrial septal defect 27.69%, Tetralogy of Fallot 16.92%, Patent ductus arteriosus 16.92%, Coarctatation of the aorta 7.69%, combination of more simple defects 7.69%, Atrioventricular septal defects 6.15%, Ventricular septal defect 4.61%, Pulmonary stenosis 4.61%, Anomalous pulmonary venous connection 4.61% and the other complex defects 3.07%. Among all cases 10.76% were associated with some of the syndromes. In 86.13% of cases total correction have been performed and palliative in 13.84% of cases. Death rate was 10.76%, and postoperative complications 21.53%. Catheterizations was performed on 14 patients (21.53%), and three of them had therapeutic interventional cardiac catheterization (coil, umbrella, balloon dilatation). The average timing of: preoperative procedures was 3.5 days, postoperative following 7.5 days and intensive care 2.2 days.
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Cardiopatias Congênitas/cirurgia , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/mortalidade , Humanos , Lactente , Masculino , Cuidados Paliativos , Complicações Pós-Operatórias , Estudos Retrospectivos , Taxa de SobrevidaRESUMO
Children's occult infections are characterised presenting pathogenic bacteries in blood of children in age 3 to 36 months, but they are good general aspect and orderly immunologic status and they don't have signs of focal infection. Manifestation of occult infections determined: age of child, increasing bodies temperature, testsphysical observance and clinical-biochemistry tests. Prevalence of manifestation occult infections is 3-8%, but they manifest ni a form occult bacteremia, occult pneumonia nad occult urinary infection. Methodic, systematic admission and adequate clinical-biochemical monitoring, we minimise sequeles of occult infections. Risk of serious sequeles at occult infections is importantly decreasing by epidemiological changes that it rises by using vaccination against Haemophilus influenzae and Streptococcus pneumoniae is leading ethiological source. Many contraversal opinions are presented in glance of therapeutic strategy at children's occult infection. Future of solutions at many hesitations ni context diagnosis and therapy of occult infections is established in using recent detectional tests /pneumococcus PCR, plasmas tumor reaction, interleukin lâ/ and preventive intervetions activities /conjugated pneumococcus vaccination/.
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Infecções Bacterianas/diagnóstico , Infecções Bacterianas/prevenção & controle , Pré-Escolar , Humanos , Lactente , Fatores de RiscoRESUMO
A case of congenital heart disease (single ventricle) has been reported in nine and half years old child. This congenital heart disease is uncommon, but its diagnosis and treatment are complex. Complete noninvasive and invasive diagnostic procedure has been performed with this child. This congenital heart disease is proclaimed as inoperable because pulmonary hypertension has been developed.
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Ventrículos do Coração/anormalidades , Criança , Humanos , Hipertensão Pulmonar/etiologia , MasculinoRESUMO
BACKGROUND: Volatile anesthetics exert their negative chronotropic and inotropic effects, in part by depressing the L- and T-type calcium channels. This study examines and compares the dose-dependent effects of isoflurane on atrial L- and T-type calcium currents (I(Ca,L) and I(Ca,T)) and ventricular I(Ca,L). METHODS: Whole cell I(Ca) was recorded from enzymatically isolated guinea pig cardiomyocytes. Current-voltage relations for atrial and ventricular I(Ca,L) was obtained from holding potentials of -90 and -50 mV to test a potential of +60 mV in 10-mV increments. Atrial I(Ca,T) was determined by subtraction of currents obtained from holding potentials of -50 and -90 mV. Steady state inactivation was determined using standard two-pulse protocols, and data were fitted with the Boltzmann equation. RESULTS: Isoflurane depressed I(Ca) in a dose-dependent manner, with Kd values of 0.23+/-0.03, 0.34+/-0.03, and 0.71+/-0.02 mM of anesthetic for atrial I(Ca,T) and I(Ca,L) and ventricular (ICa,L), respectively, and caused a significant (P < 0.05) hyperpolarizing shift in steady state inactivation. At 1.2 and 1.6 mm, isoflurane caused a significant (P < 0.05) depolarizing shift in the steady state activation in ventricular I(Ca,L) but not in atrial I(Ca,L) or I(Ca,T). In addition to the depression of I(Ca,L), isoflurane also induced a hyperpolarizing shift in the reversal potential of I(Ca) for both atrial and ventricular L-type calcium channels. CONCLUSION: The results show that atrial I(Ca,T) is more sensitive to isoflurane than atrial I(Ca,L), and ventricular I(Ca,L) was the least responsive to the anesthetic. These differential sensitivities of the calcium channels in the atrial and ventricular chambers might reflect phenotypic differences in the calcium channels or differences in modulation by the anesthetic.
Assuntos
Anestésicos Inalatórios/farmacologia , Canais de Cálcio Tipo L/efeitos dos fármacos , Canais de Cálcio Tipo T/efeitos dos fármacos , Coração/efeitos dos fármacos , Isoflurano/farmacologia , Algoritmos , Animais , Separação Celular , Cobaias , Átrios do Coração/citologia , Átrios do Coração/metabolismo , Ventrículos do Coração/citologia , Ventrículos do Coração/metabolismo , Técnicas In Vitro , Indicadores e Reagentes , Miocárdio/metabolismo , Técnicas de Patch-ClampRESUMO
UNLABELLED: During August 1996 to August 1998 at the Paediatric Clinic in Sarajevo, 8 patients (pts) have been diagnosed to have a Transposition of the Great Arteries (TGA), age 10 hrs to 31 days. First Group (n = 4) had a simple TGA and in II Group in 3 pts TGA was associated with double inlet left ventricle (DILV) and subpulmonary artery stenosis and in 1 with double outlet right ventricle (DORV) and subpulmonary artery stenosis. Anatomical correction of TGA-arterial switch has been performed in Group I, mean age 15.5 days (7-18). In Group II palliative correction has been completed in: atrioseptectomy (1/4), pulmonary artery banding (3/4), right Blalock-Tausing modified shunt and also partial correction: Glenn anastomosis, mean age 4.7 months. Pts have been followed from 3 to 19 months postoperatively. All pts are well, except 1 pt who died following the arterial switch (mortality rate 12.5%). The aim of this study is to evaluate left ventricle (LV) function pre and postoperatively with electrocardiographic monitoring. Electrocardiographically there was no significant rhythm disorders. Using M mode echocardiography techniques, LV function was measured including internal dimensions of the LV as well as a wall thickness and than compared with the others comparable to the age and body weight. LV function in pts post anatomical correction has returned to normal values faster, with statistically significant difference of p = 0.02, than in pts post palliative-partial correction. CONCLUSION: Echocardiographically LV function in pts with TGA post arterial switch returned faster to normal values than in pts following the palliative-partial correction.
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Transposição dos Grandes Vasos/fisiopatologia , Transposição dos Grandes Vasos/cirurgia , Função Ventricular Esquerda , Procedimentos Cirúrgicos Cardíacos , Ecocardiografia , Feminino , Humanos , Recém-Nascido , Masculino , Cuidados Paliativos , Transposição dos Grandes Vasos/diagnóstico por imagemRESUMO
The aim of the study is to evaluate choice, efficacy and safety of transcatheter therapy in patients (pts) with congenital heart disease which has been performed in Europe on pts from the Paediatric Clinic of Sarajevo. From January 1996 to August 1998 out of 20 transcatheter therapeutic interventions, 5 have been done in pts whose congenital heart lesions: ductus arteriosus persistence (DAP), atrial septal defect (ASD), pulmonary artery valve stenosis (PS), aortic valve stenosis (AS), were diagnosed in first year of life. Pts were followed 11 months post interventions (the longest period of follow-up 19 months). All pts are well and asymptomatic. DAP closure has been done using "coil" devices in 2 pts (in Italy and Monaco) age 5 and 7.5 years. Duct diameter was 3.5 mm and 4 mm with percent of success within 24 hrs of 100%. With PW Doppler no residual ductual shunt has been proven. Transcatheter closure of ASD type secundum diameter 9 mm, using the "amplatz" device has been performed in Germany. No residual shunt has been proven by echocardiography. Balloon pulmonary valvuloplasty successfully was done in 1 pt in Austria age 3/12 with normal flow of right ventricle outflow tract post intervention. Balloon aortic valvuloplasty was performed in Sweden in neonate with decrease of pressure gradient of AS for 70%. Using Pencil Doppler, 8/12 post intervention in that pt restenosis occurred. The therapeutic catheterizational technique has been successful in alternating surgical approach to resolve congenital heart disease. With further development of catheter systems, techniques and longer periods of follow-up, possibilities of simpler, faster, safer and more efficient solvation of cardiac lesions will brightening up the future of paediatric interventional catheterisation.
Assuntos
Cateterismo Cardíaco , Cateterismo , Cardiopatias Congênitas/terapia , Radiografia Intervencionista , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Lactente , MasculinoRESUMO
Cardiovascular diseases cause death in 40% patients on the chronic haemodialysis program. Our aim was to assess the heart changes in these patients by echocardiography. We have tested 40 patients, but 34 of them accomplished criteria for this study. There were 19 (55.88%) females and 15 (44.12%) males. The average age was 44 years and average duration of haemodialysis treatment was 4.72 years. The research was made with ultrasound device TOSHIBA SSH 65 A SONOLAYER and transducers 3.5 and 2.75 MHz. Twenty patients (58.82%) have had pathological echocardiogram. Ten patients (29.42%) have had conditionally normal echocardiogram while four patients (11.76%) have had completely normal echocardiogram. In patients with pathological echocardiogram, some of the left ventricle hypertrophy forms dominated. Echocardiography is a useful method in morphologic and functional cardiac assessment at the last stage renal disease patients on the chronic haemodialysis program. Using the aforementioned method we are able to select the patients who need intensive cardiac care.