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1.
Acta Chir Belg ; : 1-5, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38842285

RESUMO

Pleuropulmonary blastoma (PPB) is a very rare tumor of the chest seen predominantly in young children with great heterogeneity and clinical, biochemical, and biological complexity and recognized, described, and classified as distinct from the pulmonary blastoma typically encountered in adults. Unfortunately, it has a poor and dismal prognosis and is mainly classified as cystic (type 1), mixed type (type 2), and solid (type 3). Herein, we present one case of PPB type 2 presenting clinically with a right pulmonary abscess, a rare clinical presentation of PPB, which was initially treated with surgery, and after approximately 1 year of follow-up, pulmonary rest-recurrence and central nervous system secondary deposits were detected. When a large pleural-based mass is identified in a young child, PPB should also be considered, especially in a patient with a positive oncological family history. Suggestive findings include the absence of chest wall invasion, presence of pleural fluid, right-sided location, and heterogeneous native (NECT) low attenuation with variable postcontrast enhancement. The authors believe that a modern therapeutic approach should consider these results for a better understanding of the genetic nature and complex mechanism and process of PPB disease development (both clinical and preclinical data concerning PPB pathophysiology are still lacking and are not completely understood) so that it would be possible to establish new possible therapeutic options (i.e. nuclear medicine theranostics in PPB treatment, developments and innovation in FLASH radiotherapy and proton therapy) and approaches, and so that, given the severity of the disease, it would be possible to indicate the importance of genetic testing and counseling of close relatives. In line with the previous, the rapid development of artificial intelligence could potentially bring the development of a novel fusion of radio mics and semantic features and MRI-based machine learning in distinguishing PPB from similar pathology.

2.
Pediatr Radiol ; 54(4): 479-480, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-38300285
3.
Medicina (Kaunas) ; 55(4)2019 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-30978997

RESUMO

Background and objective: Dysfunctional voiding (DV) presents relatively frequent problem in pediatric urologist practice. The necessity for implementation of DV evaluation in the pediatric population is of particular importance, since there is no clear consensus on the clinical assessment of such condition. The aims of our study were to evaluate the test/retest reliability and reproducibility of dysfunctional voiding and incontinence scoring system: Serbian version (DVISSSR) in patients with voiding and incontinence dysfunctions without structural deformities, and to estimate cut-off value for DVISSSR. Methods: The cross-sectional study included 57 children with voiding and incontinence dysfunctions and 30 healthy pediatric controls. For the evaluation of voiding and incontinence dysfunction we used DVISS. The forward-backward method was applied for translation of the DVISS questionnaire from English into Serbian language. Reproducibility was analyzed by Interclass Correlation Coefficient (ICC). Sensitivity and specificity of DVISSSR scores was done by receiver operating curve (ROC) curve. Results: There was a significant difference in DVISSSR score between patients and controls (p < 0.001). For reliability and reproducibility of the questionnaire, there was no significant difference between repeated measurements (p = 0.141), and strong reliability (ICC = 0.957; p < 0.001). Conclusion: We have demonstrated successful translation and validation of the DVISSSR score. Moreover, a reliable scoring system of children with voiding dysfunctions should include evaluations of symptom scoring systems at the multicentric level.


Assuntos
Projetos de Pesquisa/estatística & dados numéricos , Traduções , Incontinência Urinária/epidemiologia , Criança , Estudos Transversais , Feminino , Humanos , Idioma , Masculino , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Sérvia/epidemiologia , Índice de Gravidade de Doença , Estatísticas não Paramétricas , Inquéritos e Questionários
4.
Med Sci Monit ; 23: 4299-4305, 2017 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-28874655

RESUMO

BACKGROUND New renal biomarkers such as neutrophil gelatinase-associated lipocalin (NGAL) and kidney injury molecule-1 (KIM-1) show promise in early diagnosis of contrast media induced acute kidney injury (CI-AKI). The purpose of our study was to compare the subclinical nephrotoxicity (a condition without changes in standard renal biomarkers) of gadolinium-based contrast media (Gd-DTPA, gadopentetate dimeglumine) and iodinated-based contrast media (iopromide) in pediatric patients with normal kidney function. MATERIAL AND METHODS The first group (n=58) of patients included in the study were undergoing angiography with iopromide, and the second group (n=65) were undergoing magnetic resonance (MR) angiography/urography with Gd-DTPA administration. The concentrations of NGAL and KIM-1 were measured four times in the urine (pre-contrast, then at four hours, 24 hours, and 48 hours after contrast administration), and serum NGAL was measured at 0 (baseline), 24 hours, and 48 hours after contrast exposure. RESULTS After 24 hours, serum NGAL increase of ≥25% was noticed in 32.6% of the patients in the iopromide group and in 25.45% of the patients in the gadolinium group, with significantly higher average percent of this increase in first group (62.23% vs. 36.44%, p=0.002). In the Gd-DTPA group, we observed a statistically significant increase in urinary KIM-1 24 hours after the procedure. Normalized urinary KIM-1, 24 hours after contrast exposure, was a better predictive factor for CI-AKI than other biomarkers (AUC 0.757, cut off 214 pg/mg, sensitivity 83.3%, specificity 54.2%, p=0.035). CONCLUSIONS In children with normal renal function, exposure to iodinated-based and gadolinium-based media might lead to subclinical nephrotoxicity, which could be detected using serum NGAL and urinary KIM-1.


Assuntos
Injúria Renal Aguda/induzido quimicamente , Meios de Contraste/efeitos adversos , Gadolínio DTPA/efeitos adversos , Receptor Celular 1 do Vírus da Hepatite A/metabolismo , Iohexol/análogos & derivados , Rim/efeitos dos fármacos , Lipocalina-2/sangue , Injúria Renal Aguda/sangue , Injúria Renal Aguda/urina , Adolescente , Biomarcadores/sangue , Biomarcadores/urina , Estudos de Casos e Controles , Criança , Pré-Escolar , Creatinina/sangue , Feminino , Humanos , Iohexol/efeitos adversos , Masculino
5.
J Pediatr Urol ; 2024 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-39414410

RESUMO

Zinner syndrome is a rare congenital malformation of the urinary system that occurs exclusively in males. It consists of renal agenesis, ipsilateral obstruction of the ejaculatory duct, and cystic changes in the seminal vesicles. It is rarely described in the pediatric population due to the absence of symptoms, as well as the failure to recognize it due to masking by other morphological changes and conditions. Four patients from the pediatric population are presented. Two patients were asymptomatic, and the changes were detected incidentally or during other diagnostic procedures. The other two patients exhibited symptoms and signs such as testicular pain, abdominal pain, hematuria, and hematospermia, along with megaureter. Ultrasound serves as the initial diagnostic method, while confirmation of Zinner's syndrome is established by MR urography. In cases that ultrasound verified kidney agenesis and ipsilateral anechoic, avascular tubulocystic structures, it is necessary to perform follow-up MR urography to confirm or exclude Zinner's syndrome. Following diagnosis, asymptomatic pediatric patients should be monitored every 6 months to a year, using ultrasound, with particular attention to cyst size and content.

6.
Surg Today ; 43(5): 521-5, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23132324

RESUMO

PURPOSE: To establish the importance of shunt surgery combined with partial resection of the spleen for selected pediatric patients with extra-hepatic portal vein obstruction (EHPVO), enormous splenomegaly and severe hypersplenism. Severe hypersplenism is often refractory to treatment with endoscopic sclerotherapy or band ligation and shunt surgery; however, to our knowledge, this is the first such study to be published. METHODS: Distal splenorenal shunt with partial resection of the spleen was performed in 16 of 60 children treated for EHPVO in the Gastroenterology Department of our hospital. Upper gastrointestinal endoscopy had shown esophageal varices of varying grade in all patients and band ligation or endoscopic sclerotherapy had been done for children with a history of bleeding. The indications for surgery were pain and discomfort caused by a large spleen (5-15 cm below the costal margin) and symptomatic hypersplenism with leucopenia, thrombocytopenia, and anemia. Partial resection of the spleen was performed, starting with ligation of the branches and tributaries of the caudal two-thirds. When an ischemic line demarcated the splenic parenchyma, it was transected using electrocautery or LigaSure, leaving 20-30 % of splenic tissue. After the spleen resection, a Warren shunt was performed. Platelet and white blood cell counts and liver function tests were performed before and after the operation. Growth was assessed using SD scores (z scores) for height, weight, and body mass index at the time of surgery and 1 year later. RESULTS: Postoperative recovery was uneventful and the leukocyte and platelet counts normalized. The shunt patency rate was 100 %. Two cases of shunt stenosis were treated successfully with percutaneous angioplasty. There was no postoperative mortality. During the follow-up period, from 1 to 7 years, all 16 children were asymptomatic, with improved quality of life, growth, and nutrition. No episodes of variceal bleeding, sepsis or encephalopathy occurred. CONCLUSION: Our results demonstrate that shunt surgery with partial resection of the spleen is effective and safe for pediatric patients with massive splenomegaly and severe hypersplenism secondary to EHPVO.


Assuntos
Hiperesplenismo/cirurgia , Hipertensão Portal/complicações , Hipertensão Portal/cirurgia , Esplenectomia/métodos , Esplenomegalia/cirurgia , Derivação Esplenorrenal Cirúrgica/métodos , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hiperesplenismo/etiologia , Masculino , Índice de Gravidade de Doença , Esplenomegalia/etiologia , Resultado do Tratamento
7.
Sci Rep ; 12(1): 828, 2022 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-35039571

RESUMO

The study aimed to discriminate renal allografts with impaired function by measuring cortical renal blood flow (cRBF) using magnetic resonance imaging arterial spin labelling (ASL-MRI) in paediatric and young adult patients. We included 18 subjects and performed ASL-MRI on 1.5 T MRI to calculate cRBF on parameter maps. cRBF was correlated to calculated glomerular filtration rate (GFR) and compared between patient groups with good (GFR ≥ 60 mL/min/1.73 m2) and impaired allograft function (GFR < 60 mL/min/1.73 m2). Mean cRBF in patients with good allograft function was significantly higher than in patients with impaired allograft function (219.89 ± 57.24 mL/min/100 g vs. 146.22 ± 41.84 mL/min/100 g, p < 0.008), showing a highly significant correlation with GFR in all subjects (r = 0.75, p < 0.0001). Also, the diffusion-weighted imaging (DWI-MRI) apparent diffusion coefficient (ADC) and Doppler measurements of peak-systolic and end-diastolic velocities and the resistive index (PS, ED, RI) were performed and both methods showed no significant difference between groups. ADC implied no correlation with GFR (r = 0.198, p = 0.464), while PS indicated moderate correlation to GFR (r = 0.48, p < 0.05), and PS and ED moderate correlation to cRBF (r = 0.58, p < 0.05, r = 0.56, p < 0.05, respectively). Cortical perfusion as non-invasively measured by ASL-MRI differs between patients with good and impaired allograft function and correlates significantly with its function.


Assuntos
Aloenxertos/diagnóstico por imagem , Aloenxertos/fisiopatologia , Imagem de Difusão por Ressonância Magnética/métodos , Falência Renal Crônica/fisiopatologia , Transplante de Rim , Imageamento por Ressonância Magnética/métodos , Circulação Renal/fisiologia , Transplante Homólogo , Adolescente , Adulto , Criança , Diástole , Feminino , Taxa de Filtração Glomerular , Humanos , Córtex Renal/irrigação sanguínea , Córtex Renal/diagnóstico por imagem , Falência Renal Crônica/cirurgia , Masculino , Sístole , Adulto Jovem
8.
BJU Int ; 108(10): 1660-3; discussion 1663-4, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21446936

RESUMO

OBJECTIVE: To present outcomes of a minimally invasive inguinal technique for the separation of the distal part of ureters in duplex systems and for the extravesical ureteroneocystostomy of only the pathologically involved ureter. MATERIALS AND METHODS: From November 2001 to February 2007, we performed extravesical reimplantation of only the involved ureter in 21 duplex systems, of which 14 were refluxing (megaureters) and seven had obstruction of the ureterovesical junction. The mean (range) age of the patients was 39 (17-59) months. In seven patients, ureterocutaneostomy (of the involved ureter only) was performed first, with reimplantation 3-6 months later, after the diameter of the ureter had decreased, to ensure safe reimplantation. The mean (range) postoperative follow-up was 28 (12-47) months. RESULTS: Postoperative voiding cysto-urethrograms (VCUGs) and magnetic resonance imaging (MRI), showed an absence of vesico-ureteric reflux (VUR) or obstruction in the ureters of the first 10 patients. In the remaining 11 patients, there was no ultrasound detectable dilatation, but symptomatic urinary tract infection developed in two of these patients. Subsequent VCUG and MRI results showed no obstructions or VURs. CONCLUSION: Our results showed that the minimally invasive inguinal approach to separation of ureters in duplex systems and single ureteroneocystostomy of only the pathologically involved ureter represents a viable treatment option.


Assuntos
Ureter/anormalidades , Ureteroscopia/métodos , Pré-Escolar , Feminino , Humanos , Lactente , Tempo de Internação , Masculino , Resultado do Tratamento , Ureter/cirurgia
9.
Children (Basel) ; 7(3)2020 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-32131387

RESUMO

Our study aimed to analyze the reliability, consistency, and temporal stability of the Alberta Infant Motor Scale (AIMS) in Serbian infants. Additionally, we aimed to present a percentile distribution of AIMS in the tested population. The prospective study included 60 infants that were divided into three age groups: 0-3 months, 4-7 months, and 8-14 months. The Serbian version of AIMS was tested by two raters on two different occasions (test/retest) with a five day period between tests. The observed inter-rater reliability (intraclass correlation coefficient (ICC)) was more than 0.75 for all AIMS scores, except for standing (ICC 0.655 = moderate) in the age group of 4-7 months on retest between raters. The observed intra-rater reliability (ICC) was more than 0.75 for all AIMS scores except standing (ICC 0.655 = moderate) in the age group 4-7 months in test-retest for Rater One, and for sitting (ICC 0.671 = moderate) and standing (ICC 0.725 = moderate) in the age group between 0-3 months on test-retest for Rater Two. The Serbian version of AIMS was shown to have high consistency and high reliability with good to high temporal stability. Thus, it can be used in the evaluation of infants' motor development in Serbia.

10.
J Clin Med ; 7(8)2018 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-30110988

RESUMO

OBJECTIVE: The aims of our study were to translate the dysfunctional voiding symptom score (DVSS) from English to Serbian; culturally adopt the items; assess the internal consistency and the test⁻retest reliability of DVSSSR in patients with dysfunctional voiding (DV); evaluate and test the construct and divergent validity of DVSSSR against demographic parameters (gender and education); and examine the level of explained variability for each item of DVSSSR against demographic parameters (gender and education). METHODS: The cross-sectional observational study included 50 patients with dysfunctional voiding aged 5 years and above. The DVSS questionnaire was translated from English into Serbian by the forward⁻backward method. Internal consistency was assessed with Cronbach α and test⁻retest reliability with intraclass correlation coefficient (ICC). For validity testing we performed construct and divergent validity analyses. RESULTS: There was excellent internal consistency for every item except for Item 6 (0.787) and Item 3 (0.864), where internal consistency was good. The observed test/retest ICC for average measures was more than 0.75 (excellent) for all DVSSSR items. Gender and educational level does not correlate significantly with each item of DVSSSR (p > 0.05). For divergent validity, there were no significant differences in mean values of each item of DVSSSR between genders and different levels of education (p > 0.05). Variability that can be explained for gender and educational level was below 10%. CONCLUSION: Translated DVSSSR is of adequate validity and reliability for assessing DV in children.

11.
Ann Ital Chir ; 86: 443-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26567456

RESUMO

INTRODUCTION: An aberrant or accessory crossing renal vessel (CV) leading to the lower pole of the kidney is the most common extrinsic cause of uretero pelvic obstruction(UPJ) obstruction in a child and young adolescent.There is still controversy regarding there functional significance in obstruction Preoperative identification of such vessels may influence surgical management. OBJECTIVE: First aim is to determine the value of magnetic resonance (MR) urography in detecting crossing vessels in children with UPJ obstruction,comparing the data with postoperative findings and the second one is to evaluate morphologic and functional parameters in these hydronephrotic kidneys. MATERIALS AND METHODS: Between June 2009 and December 2012 we retrospectively reviewed MR urography records of one hundred and nine children with unilateral hydronephrosis at the University Children's Hospital. 68 (62.4%) were male and 41 (37.6%) were female,median age was 6.5 ± 5.7. Of the total number of patients, 30 (27%) underwent pyeloplasty, while 79 (72.5%) did not. The age at surgery ranged from 0.3 to 18 years (median 6.6 years). The indication for surgery was based on standard criteria (obstructed renal transit time with or without altered renal function of vDRF < 40%), and did not depend on the presence or absence of a crossing vessel.Consensus reviewes of the MR urography studies were compared with surgical findings. RESULTS: A crossing vessel (CV) was found upon surgery in 9 (33%) of 30 kidneys.On MRU, there was no crossing vessel in 21 kidneys, confirmed at surgery in 18. A crossing vessel was detected with MRU in 9 kidneys and confirmed at surgery in 6. Thus, the sensitivity of MRU was 66.7%, the specificity was 85.7%, the positive predictive value was 66.7%, the negative predictive value was 85.7% and the accuracy was 80%. There was no statistically significant difference in the detection of crossing vessels between MR urography and surgery (p = 0.004 and p < 0.01 respectively). Overall, MRU and surgery showed good agreement (κ = 0.524). CONCLUSION: Based on our results we suggest that MR urography is a reliable and safe diagnostic tool to determine crossing vessels in selected children with UPJ obstruction. Thus, MRU can substitute for other imaging modalities and provide detailed information about the morphology and function of the affected kidney KEY WORDS: Children, Crossing renal vessels, Hydronephrosis, Ureteropelvic function obstruction.


Assuntos
Técnicas de Diagnóstico Urológico , Hidronefrose/diagnóstico por imagem , Pelve Renal/diagnóstico por imagem , Rim/irrigação sanguínea , Imageamento por Ressonância Magnética , Obstrução Ureteral/diagnóstico por imagem , Malformações Vasculares/diagnóstico por imagem , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hidronefrose/etiologia , Hidronefrose/cirurgia , Lactente , Pelve Renal/irrigação sanguínea , Pelve Renal/cirurgia , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Obstrução Ureteral/etiologia , Obstrução Ureteral/cirurgia , Malformações Vasculares/complicações
12.
J Med Biochem ; 34(1): 38-45, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28356822

RESUMO

BACKGROUND: Prediabetes is characterized by isolated impaired fasting glucose (IFG), isolated impaired glucose tolerance (IGT), and combined IFG/IGT. This study aimed to establish the prevalence of prediabetes and examine possible contributory factors in a cohort of obese adolescents. METHODS: In this prospective study, we recruited 85 obese patients from the Obesity Clinic at the University Children's Hospital and 17 normal weight controls. All patients were of Caucasian origin, 60 males/42 females, aged 7.4-18.3 years, with at least Tanner 2 stage of puberty. RESULTS: Depending on criteria we used, insulin resistance was confirmed in 62-100% of obese patients, predominantly in the group with BMI SDS > 3. oGTT revealed isolated impaired fasting glucose (IFG) in 13.9%, impaired glucose tolerance (IGT) in 20.8% and combined IFG and IGT only in 2.8% of the obese patients. Patients in the prediabetes group were older (14±2.4 vs 12.8±2.5 p=0.04) and had higher glucose levels (p<0.001) during the whole oGTT compared to normal glucose tolerance (NGT) group. There was no difference between groups in respect to family history, BMI, lipids and fasting insulin. Insulinogenic index, WBISI and HOMA%B were significantly lower in the prediabetes group compared to the NGT group (p=0.07, 0.01 and 0.04 respectively). HbA1c level was measured in 58% of patients and was significantly higher in the prediabetes group (5.4±0.3 vs 5.7±0.4, p=0.002). CONCLUSION: Prediabetes occurrence was fairly high in our obese adolescents. Further studies should establish what would be the most appropriate screening test to diagnose these patients at risk for type 2 diabetes and initiate treatment without delay.

13.
Srp Arh Celok Lek ; 142(7-8): 419-23, 2014.
Artigo em Sr | MEDLINE | ID: mdl-25233685

RESUMO

INTRODUCTION: Extra-hepatic portal vein obstruction (EHPVO) is one of the most often causes of portal hypertension in children. OBJECTIVE: Establishing the importance of shunt surgery in combination with partial spleen resection in selected pediatric patients with EHPVO, enormous splenomegaly and severe hypersplenism. METHODS: Distal splenorenal shunt (DSRS) with partial spleen resection was performed in 22 children age from 2 to 17 years with EHPVO. Indications for surgery were pain and abdominal discomfort caused by spleen enlargement, as well as symptomatic hypersplenism with leucopenia, thrombocytopenia and anemia. The partial spleen resection was performed by ligation of blood vessels to caudal two thirds of the spleen. After ischemic parenchymal demarcation transection with electrocautery LigaSure was performed with preservation of 20-30% of spleen tissue, and then Warren DSRS was created. Platelet and leucocytes counts and liver function tests were obtained before, one month and one year after surgery. Growth was assessed with SD scores (Z scores) for height, weight and body mass index at the time of surgery and one year later. RESULTS: In all patients postoperative period was without significant complications. Platelets and leucocytes counts were normalized. Patency rate of shunts was 100%. Two significant shunts stenosis were observed and successfully treated with percutaneous angioplasty. During the follow-up period (1 to 9 years) all patients were asymptomatic, with improved quality of life and growth. CONCLUSION: Results of our study indicate that shunt surgery with a partial spleen resection is an effective and safe procedure for patients with enormous splenomegaly and severe hypersplenism caused by EHPVO.


Assuntos
Hiperesplenismo/cirurgia , Hipertensão Portal/cirurgia , Esplenectomia/métodos , Esplenomegalia/cirurgia , Derivação Esplenorrenal Cirúrgica/métodos , Adolescente , Criança , Pré-Escolar , Humanos , Derivação Esplenorrenal Cirúrgica/efeitos adversos , Resultado do Tratamento
14.
Srp Arh Celok Lek ; 142(1-2): 75-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24684036

RESUMO

INTRODUCTION: X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE: A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and disproportionate short stature (79 cm, < P5; -1,85 SD). On the basis of hypophosphatemia, hyperphosphaturia, high serum level of alkaline phosphatase, normal calcemia, 25(OH)D and PTH, as well as characteristic clinical and X-ray findings, diagnosis of hypophosphatemic rickets (HR) was made. Normal calciuria and absence of other renal tubular disorders indicated HR as a consequence of isolated hyperphosphaturia. The treatment (phosphate 55 mg/kg and calcitriol 35 ng/kg per day), introduced 15 month ago, resulted in a stable normalization of alkaline phosphatase and phosphorus serum levels (with intact calcemia and calciuria), disappearance of X-ray signs of the active rickets and improvement of the child's longitudinal growth (0.6 cm per month). Subsequently, by detection of already known mutation in the PHEX gene: c.1735G>A (p.G579R) (exon 17), XLHR was diagnosed. Analysis of the parental PHEX gene did not show the abnormality, which indicated that the child's XLHR was caused by de novo mutation of this gene. CONCLUSION: Identification of genetic defects is exceptionally significant for diagnosis and differential diagnosis of hereditary HR.


Assuntos
Raquitismo Hipofosfatêmico Familiar/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Pré-Escolar , Raquitismo Hipofosfatêmico Familiar/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética
15.
Srp Arh Celok Lek ; 141(9-10): 676-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24364233

RESUMO

INTRODUCTION: Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present the girl with the early expressed and severe PSACH born to clinically and radiographically unaffected parents. CASE OUTLINE: A 6.5-year-old girl presented with short-limbed dwarfism (body height 79.5 cm, < P5;-32%) and normal craniofacial appearance and intelligence. The girl was normal until 3 months of age when she expressed growth retardation with apparently shorter extremities in relation to the torso. With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum, lumbar lordosis and abnormal gait. Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses, small and irregular epiphyses and poorly formed acetabulum. CONCLUSION: PSACH is an achondroplasia-like rhizomelic dwarfism recognized by the absence of abnormality at birth, normal craniofacial appearance, characteristic epiphyseal and metaphyseal radiographic finding and joint hyperlaxity.


Assuntos
Acondroplasia/diagnóstico por imagem , Acondroplasia/patologia , Acondroplasia/complicações , Criança , Feminino , Humanos , Radiografia
16.
Eur J Pediatr Surg ; 23(1): 80-4, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23378159

RESUMO

AIM: Evaluation of the effectiveness of oral atropine versus surgical therapy for hypertrophic pyloric stenosis (HPS). METHODOLOGY: A total of 66 consecutive patients with HPS were treated at the University Children's Hospital between January 2006 and December 2011. The diagnosis was initially based on medical history and confirmed by ultrasonography (US). The patients were divided into two groups according to the treatment preferred by their parents. The conservatively treated group, consisting of 33 boys and 7 girls, mean age 22.25 days, was given water-soluble atropine sulfate therapy at an initial dose of 0.05 mg/kg/day divided into 8 single doses, and administered after stomach decompression, 20 minutes prior to feeding. If vomiting persisted, the daily dose was progressively increased up to 0.18 mg/kg. If vomiting did not stop and full oral feeding was not reestablished in a week, surgery was done. The second group of 26 patients, mean age 20.86 days, underwent an operative procedure, Ramstedt extramucosal pyloromyotomy after the initial resuscitation. US evaluation was performed on days 7, 14, and 21. The outcome of the treatment was tested by Yates modification of the χ2 test. RESULTS: In the group of patients treated with atropine sulfate, 10 (25%) failed to respond to therapy, therefore, 8 boys and 2 girls underwent surgical treatment between the fifth and seventh day following institution of therapy. The remaining patients who received atropine sulfate (75%) were discharged when vomiting ceased, between the sixth and eighth day. They continued to take oral medication for 4 to 6 weeks, and were followed up by an ultrasound examination. The operated patients were discharged between the third and fifth day after surgery. There was a significant statistical difference between the groups regarding the outcome at a significance level of p < 0.05 (Yates χ2 = 5.839), with no complications regardless of the treatment option. However, at the significance level of p < 0.01 (Yates χ2 = 7.661), these methods demonstrate a difference in favor of surgical treatment. CONCLUSION: Further investigation of oral, intravenous or combined atropine sulfate treatment may clarify its position as an alternative to pyloromyotomy.


Assuntos
Atropina/uso terapêutico , Parassimpatolíticos/uso terapêutico , Estenose Pilórica Hipertrófica/tratamento farmacológico , Estenose Pilórica Hipertrófica/cirurgia , Piloro/cirurgia , Administração Oral , Estudos de Coortes , Esquema de Medicação , Feminino , Humanos , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
17.
Srp Arh Celok Lek ; 137(9-10): 502-5, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19950756

RESUMO

INTRODUCTION: Neurogenic bladder can develop as a result of various degrees of neurogenic lesion in spina bifida. The degree of bladder dysfunction depends on the level and type of spina bifida. Due to results upon complete diagnostic protocols, treatment options are applied. OBJECTIVE: Comparison of therapy results of patients with occult spinal dysraphism with neurogenic bladder that underwent medicamentous therapy and medicamentous with electrotherapy treatment. METHODS: We had 49 patients with neurogenic bladder that were treated at the University Children's Hospital in Belgrade in the period 2003-2008. The first group of children received medicamentous therapy and the second group received medicamentous therapy with transcutaneous electric nerve stimulation. In both groups we evaluated 4 symptoms: daily enuresis, enuresis nocturna, urgency and frequency and 4 urodynamic parameters: lower bladder capacity, unstable contractions and residual urine and detrusor sphincter dyssynergia. Follow-up urodynamic evaluation was done after 3, 6 and 12 months respectively. RESULTS: Our findings pointed out a high statistical significance of improvement in all evaluated urodynamic parameters of neurogenic bladder (predominantly in bladder capacity) in the group of children with combined therapy as well in resolution of symptoms (predominantly enuresis nocturna, urgency and frequency). CONCLUSION: Combined therapy is more efficient in treatment of children with neurogenic bladder. Electrotherapy is non-invasive, easily applicable and has had a significant place in treatment of children with dysfunctional voiding.


Assuntos
Disrafismo Espinal/complicações , Estimulação Elétrica Nervosa Transcutânea , Bexiga Urinaria Neurogênica/terapia , Criança , Feminino , Humanos , Masculino , Bexiga Urinaria Neurogênica/tratamento farmacológico , Bexiga Urinaria Neurogênica/etiologia
18.
Srp Arh Celok Lek ; 136(11-12): 617-20, 2008.
Artigo em Sr | MEDLINE | ID: mdl-19177823

RESUMO

INTRODUCTION: Positional installation of contrast cystography (PIC cystography) represents a new method to identify vesicoureteral reflux (VUR) that is unrevealed by standard diagnostic procedures. It is performed by radiological examination of the vesicoureteral junction during cystoscopic installation of the contrast medium at the ureteral orifice. OBJECTIVE: We studied the significance of PIC cystography to demonstrate VUR that failed to be revealed by standard voiding cystourethrography (MCUG), as well as the degree of the correlation of such a finding with endoscopic appearance and the position of the ureteral orifice (UO). METHOD: The aim of the paper was to analyze a sample of 5 children (4 girls and 1 boy), aged 6-15 years (mean 9.8 years) with recurrent febrile urotract infections, complicated with scarring changes of the renal parenchyma and normal findings on MCUG. The grade of VUR demonstrated by PIC cystography was classified using the standard hydrodistensional scale. RESULTS: All 5 patients had VUR, disclosed by PIC cystography, of whom in 4 it was unilateral and in one bilateral. Of 5 patients, 4 had VUR grade I and one grade II. All the children with VUR detected by PIC cystography also had evident cystoscopic abnormalities in the position and/or configuration of the ureteral orifice at the same side, while at the side with normal finding on PIC cystography, the endoscopic finding was also within normal limits. CONCLUSION: PIC cystography is the method of choice in the confirmation of VUR as the cause of recurrent urotract infection and its complications in children with a normal finding on standard MCUG. In all our patients with VUR verified by PIC cystography, at the same side we also revealed endoscopic changes in the position and/or configuration of UO.


Assuntos
Meios de Contraste/administração & dosagem , Uretra/diagnóstico por imagem , Bexiga Urinária/diagnóstico por imagem , Refluxo Vesicoureteral/diagnóstico por imagem , Adolescente , Criança , Feminino , Humanos , Masculino , Radiografia
19.
Srp Arh Celok Lek ; 136(5-6): 258-61, 2008.
Artigo em Sr | MEDLINE | ID: mdl-18792622

RESUMO

INTRODUCTION: Significant improvement in survival and quality of life in patients after the correction of congenital heart defects was enabled by the introduction of surgical procedures. Due to increased vulnerability in the period after defect correction, early rehabilitation have found its place in recovery. Various studies suggest good effects of a rehabilitation programme especially in the early rehabilitation period. OBJECTIVE: In our study we wanted to stress the importance of early rehabilitation as well as its effects of implementation. METHOD: We evaluated the children treated at the University Children's Hospital during a four-year period. All participants were divided into two groups according to age: the first group included children up to the age of one year, and the second group included those from the first till the third year of life. Patients were divided into two groups according to the presence of complications. We monitored children with 4 types of congenital heart defects: Tetralogy of Fallot, Transposition of the Great Arteries, Coarctation of the Aorta and Stenosis of the Aorta. All exercises were implemented twice daily. Out of the pulmonary system parameters we monitored saturation of oxygen during the entire programme. Other parameters that were evaluated were: heart rate, ECG and breathing frequency. RESULTS: In the children with corrected defects, the most frequent complication was athelectasis especially in the group of patients till the first year of life. The patients with the onset of complications had a longer rehabilitation programme. Saturation of oxygen at the end of the programme was significantly elevated. CONCLUSION: From the above-mentioned it can be concluded that individual rehabilitation assessment for every patient is needed. Early rehabilitation measures give sustained effects of well-being after completion of the programme.


Assuntos
Cardiopatias Congênitas/reabilitação , Criança , Pré-Escolar , Terapia por Exercício , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/cirurgia , Humanos , Lactente
20.
Srp Arh Celok Lek ; 132 Suppl 1: 77-81, 2004 Oct.
Artigo em Sr | MEDLINE | ID: mdl-15615472

RESUMO

Prenatal diagnosis allows for insight into the evaluation of fetal lung anomalies. Serial ultrasonographic studies of fetuses helped in evaluation and definition of the natural course of these lesions as well as necessity for fetal therapy. It has been found that the overall prognosis depends on the size of the lung mass and the secondary derangement of normal lung tissue and cardiovascular system. Although much is known about the prenatal course of these anomalies, little is known about the postnatal course of asymptomatic patients. Infants who are symptomatic at birth require early surgical treatment. During the period from 1984-2003, 23 patients with congenital lung anomalies were treated, out of whom 19 were diagnosed postnatally and 4 prenatally. All postnatally diagnosed patients (9 congenital lobar emphysema, 5 congenital cystic adenomatoid malformations, 3 pulmonal cysts, 1 bronchopulmonary sequestration and 1 arteriovenous malformation) underwent surgical excision (lobectomy or sequestrectomy) after becoming symptomatic (main symptoms were infection or respiratory distress). Prenatally diagnosed patients (2 bronchopulmonary sequestrations and one enteric mediastinal cyst) underwent elective surgical interventions (sequestrectomy and excision of the cyst) in infancy. Postoperative course was uneventful in all patients. One patient probably had spontaneous involution of the mass. We believe that elective resection is indicated in asymptomatic neonates with congenital lung anomalies, because of the potential risk of infection and occult malignant transformation. Early resection also maximizes compensatory lung growth. This approach eliminates any risk of pulmonary infection, lung abscess formation or malignant transformation. In addition, subsequent exposure to radiation will be avoided.


Assuntos
Pneumopatias/congênito , Pulmão/anormalidades , Diagnóstico Pré-Natal , Feminino , Doenças Fetais/terapia , Humanos , Lactente , Recém-Nascido , Pneumopatias/diagnóstico , Pneumopatias/cirurgia , Masculino , Gravidez
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