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1.
Pediatr Blood Cancer ; 67(6): e28224, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32196935

RESUMO

AIM: The aim of the study was to assess long-term consequences of central nervous system (CNS) prophylaxis in patients with high-risk ALL (HR-ALL) treated according to ALL IC-BFM 2002 and to compare observed abnormalities in patients who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) with those who received only prophylactic CNS irradiation (12 Gy) and with control group. PATIENTS AND METHODS: We studied 29 patients with HR-ALL in CR1 after treatment according to protocol ALL IC-BFM 2002 (14 with allo-HSCT conditioned with fractionated total body irradiation [FTBI] and 15 without HSCT) and 16 children with newly diagnosed ALL (control group). The median time from therapy completion to evaluation was 5 years. To assess brain status, volumetric T1-weighted sequences of magnetic resonance imaging were used. Neuropsychological assessment based on battery neuropsychological tests. RESULTS: Transplanted patients had significantly lower volumes of white and gray matter (P = .048 and P < .001) and also of subcortical structures, including the thalamus (P < .001), the hippocampus (P = .007), the putamen (P = .011), the globus pallidus (P = .001), and the accumbens (P < .001). In addition, these patients had generally lower cognitive performance, especially in vocabulary (P = .011), visuospatial ability (P = .047), executive functions and attention (P = .034; P = .002; P = .048), and processing speed (P = .049 and P = .037). The thalamus volume is correlated with neuropsychological performance in verbal functions (P < .001), executive functions (P < .001 and P = .024), and processing speed (P < .001). CONCLUSIONS: In pediatric patients treated for ALL, FTBI-based preparative regimen preceding allo-HSCT causes reduction of subcortical structure volumes and decline in cognitive performance. The observed long-term structural and functional CNS sequelae are significantly more pronounced in transplanted HR-ALL patients than in those treated with prophylactic CNS- radiotherapy only.


Assuntos
Encéfalo/patologia , Disfunção Cognitiva/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Irradiação Corporal Total/efeitos adversos , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Disfunção Cognitiva/patologia , Terapia Combinada , Feminino , Seguimentos , Humanos , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Prognóstico , Transplante Homólogo
2.
Int J Mol Sci ; 21(16)2020 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-32796691

RESUMO

Combined pituitary hormone deficiency represents a disorder with complex etiology. For many patients, causes of the disease remain unexplained, despite usage of advanced genetic testing. Although major and common transcription factors were identified two decades ago, we still struggle with identification of rare inborn factors contributing to pituitary function. In this report, we follow up genomic screening of CPHD patient cohort that were previously tested for changes in a coding sequences of genes with the use of the whole exome. We aimed to find contribution of rare copy number variations (CNVs). As a result, we identified genomic imbalances in 7 regions among 12 CPHD patients. Five out of seven regions showed copy gains whereas two presented losses of genomic fragment. Three regions with detected gains encompassed known CPHD genes namely LHX4, HESX1, and OTX2. Among new CPHD loci, the most interesting seem to be the region covering SIX3 gene, that is abundantly expressed in developing brain, and together with HESX1 contributes to pituitary organogenesis as it was evidenced before in functional studies. In conclusion, with the use of broadened genomic approach we identified copy number imbalances for 12 CPHD patients. Although further functional studies are required in order to estimate its true impact on expression pattern during pituitary organogenesis and CPHD etiology.


Assuntos
Variações do Número de Cópias de DNA/genética , Hipopituitarismo/genética , Criança , Feminino , Rearranjo Gênico/genética , Genoma Humano , Humanos , Masculino
3.
Pol J Radiol ; 84: e185-e189, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31481989

RESUMO

PURPOSE: The American College of Radiology (ACR) BI-RADS classification is the applicable for breast lesion assessment. BI-RADS categories 4 and 5 need to be followed by biopsy. The aim of our study was to evaluate the tissue biopsy-proven positive predictive value (PPV3) for BI-RADS 4 (and its subcategories) and for BI-RADS 5, and BI-RADS distribution, in comparison to ACR assumptions and literature. MATERIAL AND METHODS: We retrospectively analysed biopsies performed in our outpatient clinic in 2017. Our target group of patients consisted of 797 patients at the average age of 52 years. RESULTS: BI-RADS 5 constituted 12% of cases (95 cases), and BI-RADS 4 88% (698 cases). Within BI-RADS 4 subdivisions there were 359 cases in 4a (45.3%), 215 in 4b (27%), and 124 in 4c (15.6%). Overall PPV3 was 34.8%. BI-RADS 5 category PPV3 number was 97.89%. In category BI-RADS 4 the values of PPV3 equalled 26.22% without subdivision and 3.6%, 27.9%, and 88.7% for subcategories BI-RADS 4a, 4b, and 4c, respectively. CONCLUSIONS: BI-RADS categorisation by radiologists in the studied group matches the literature data according to achieved PPV and BI-RADS percentage distribution. The stratification of cancer risk among categories was proven with Mann-Whitney U test p value < 0.005. There was a statistically important unaccepted difference of PPV3 between core biopsy and vacuum-assisted biopsy, which needs further investigation.

4.
Adv Exp Med Biol ; 1114: 67-76, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29725972

RESUMO

In cystic fibrosis, pulmonary function tests (PFTs) and computed tomography are used to assess lung function and structure, respectively. Although both techniques of assessment are congruent there are lingering doubts about which PFTs variables show the best congruence with computed tomography scoring. In this study we addressed the issue by reinvestigating the association between PFTs variables and the score of changes seen in computed tomography scans in patients with cystic fibrosis with and without pulmonary exacerbation. This retrospective study comprised 40 patients in whom PFTs and computed tomography were performed no longer than 3 weeks apart. Images (inspiratory: 0.625 mm slice thickness, 0.625 mm interval; expiratory: 1.250 mm slice thickness, 10 mm interval) were evaluated with the Bhalla scoring system. The most frequent structural abnormality found in scans were bronchiectases and peribronchial thickening. The strongest relationship was found between the Bhalla sore and forced expiratory volume in 1 s (FEV1). The Bhalla sore also was related to forced vital capacity (FVC), FEV1/FVC ratio, residual volume (RV), and RV/total lung capacity (TLC) ratio. We conclude that lung structural data obtained from the computed tomography examination are highly congruent to lung function data. Thus, computed tomography imaging may supersede functional assessment in cases of poor compliance with spirometry procedures in the lederly or children. Computed tomography also seems more sensitive than PFTs in the assessment of cystic fibrosis progression. Moreover, in early phases of cystic fibrosis, computed tomography, due to its excellent resolution, may be irreplaceable in monitoring pulmonary damage.


Assuntos
Fibrose Cística/diagnóstico por imagem , Fibrose Cística/fisiopatologia , Testes de Função Respiratória , Tomografia Computadorizada por Raios X , Volume Expiratório Forçado , Humanos , Pulmão , Estudos Retrospectivos , Capacidade Vital
5.
Neuroradiology ; 59(2): 147-156, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28074235

RESUMO

INTRODUCTION: The aim of this study was to assess the long-term side effects of central nervous system prophylaxis (high-dose chemotherapy alone vs chemotherapy and CNS radiotherapy) according to the ALL IC-BFM 2002. METHODS: Thirty-tree children aged 6.7-19.9 years have been studied. The control group consisted of 12 children newly diagnosed with acute lymphoblastic leukemia. We assessed subcortical gray matter volume using automatic MRI segmentation and cognitive performance to identify differences between two therapeutic schemes and patients prior to treatment. RESULTS: Patients treated with chemotherapy and CNS radiotherapy had smaller hippocampi than two other subgroups and lower IQ score than patients treated with chemotherapy alone. Both treated groups, whether with chemotherapy only or in combination with CNS radiotherapy, had significantly lower volumes of caudate nucleus and performed significantly worse on measures of verbal fluency in comparison with patients prior to treatment. There were no differences in the mean volumes of total white matter, total gray matter, thalamus, putamen, and amygdala between the studied groups. CONCLUSION: In all children treated according to the ALL IC-BFM 2002 with high-dose chemotherapy, both decreased volume of selected subcortical structures and cognitive impairment was observed, especially in children who received chemotherapy in combination with reduced dose CNS radiotherapy. In all children treated according to the ALL IC-BFM 2002 with high-dose chemotherapy, both decreased volume of selected subcortical structures and cognitive impairment were observed, especially in children who received chemotherapy in combination with CNS radiotherapy.


Assuntos
Antimetabólitos Antineoplásicos/uso terapêutico , Transtornos Cognitivos/etiologia , Irradiação Craniana/métodos , Imageamento por Ressonância Magnética/métodos , Metotrexato/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico por imagem , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/radioterapia , Adolescente , Criança , Terapia Combinada , Feminino , Humanos , Masculino , Dosagem Radioterapêutica , Resultado do Tratamento , Adulto Jovem
6.
Acta Radiol ; 57(5): 565-71, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26560553

RESUMO

BACKGROUND: In addition to ultrasound, magnetic resonance imaging (MRI) is considered a suitable, non-invasive technique to assess the type and extent of vascular malformations. The distinction between low- and high-flow lesions is crucial because it determines appropriate patient treatment. PURPOSE: To distinguish high-flow from low-flow lesions on the basis of the enhancement pattern on MIP images acquired from dynamic time-resolved MR angiography (MRA) and compare it with previously described MR-based methods. MATERIAL AND METHODS: We examined 25 consecutive patients with previously diagnosed vascular malformations. Next, each malformation was classified as "high-flow" or "low-flow" using the following criteria: (i) findings on T1-weighted (T1W) and T2-weighted (T2W) imaging (signal voids, signal intensity); (ii) the time interval between the start of arterial enhancement and the onset of lesion enhancement (artery-lesion time); (iii) the time of maximum lesion enhancement; and (iv) analysis of the slope of the enhancement curve. RESULTS: Of the 25 patients, seven had high-flow and 18 had low-flow malformations. Signal voids on spin-echo T1W images were observed only in four of seven high-flow malformations and in two of 18 low-flow malformations. Analysis of signal intensity on T2W images showed increased signal intensity in 17 of 18 low-flow malformations, and in two of seven high-flow lesions. Calculation of the artery-lesion time, maximum enhancement time, and slope revealed significant differences between the high- and low-flow groups. CONCLUSION: In conclusion, the slope of the enhancement curve appears to be useful in distinguishing between high- and low-flow vascular malformations. Standardization of MR image evaluation criteria is essential.


Assuntos
Velocidade do Fluxo Sanguíneo/fisiologia , Aumento da Imagem/métodos , Angiografia por Ressonância Magnética/métodos , Malformações Vasculares/classificação , Malformações Vasculares/fisiopatologia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
7.
Pol J Radiol ; 81: 141-5, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27103945

RESUMO

Cystic fibrosis is the most common lethal autosomal recessive disorder in the Caucasian population. Although the survival rate in patients constantly improves, lung damage is still the major cause of morbidity and mortality in patients with cystic fibrosis. In clinical practice, evaluation of patients' pulmonary state is made by combination of monitoring of lung function and more directly by assessing the lung structure in imaging studies. Studies showed that computed tomography findings are more sensitive as compared to the pulmonary function tests. Computed tomography can identify a wide range of morphological abnormalities in patients with cystic fibrosis, such as bronchiectasis (which is progressive, irreversible and probably the most relevant structural change in cystic fibrosis) peribronchial thickening, mucous plugging and many other disorders that occur in the course of the disease. Computed tomography has a crucial role in the assessment of pulmonary damage over time, detecting complications and monitoring treatment effects in patients with cystic fibrosis.

8.
Diagnostics (Basel) ; 14(12)2024 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-38928639

RESUMO

The field of computed tomography (CT), which is a basic diagnostic tool in clinical practice, has recently undergone rapid technological advances. These include the evolution of dual-energy CT (DECT) and development of photon-counting computed tomography (PCCT). DECT enables the acquisition of CT images at two different energy spectra, which allows for the differentiation of certain materials, mainly calcium and iodine. PCCT is a recent technology that enables a scanner to quantify the energy of each photon gathered by the detector. This method gives the possibility to decrease the radiation dose and increase the spatial and temporal resolutions of scans. Both of these techniques have found a wide range of applications in radiology, including vascular studies. In this narrative review, the authors present the principles of DECT and PCCT, outline their advantages and drawbacks, and briefly discuss the application of these methods in vascular radiology.

9.
J Otolaryngol Head Neck Surg ; 51(1): 10, 2022 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-35246260

RESUMO

BACKGROUND: To compare the clinical features of two time cohorts of patients: "pre-COVID-19" and "COVID-19"-admitted as emergency with intracranial otogenic complications, with special regard to sigmoid sinus thrombosis (CVST). METHODS: Retrospective analysis of patients documentation concerning urgent procedures of intracranial otogenic complications at tertiary-referral otolaryngology department. Analysed database-pre-COVID-19 cohort (January-February 2019/2020): 1434 otological outpatient visits, 509 planned otosurgeries and 17 urgent otological procedures; COVID-19 cohort (March-April 2020/2021): 1150, 566 and 20 respectively. Overall intracranial complications: 5 and 9 respectively. Analysed outcome measures: incidence proportion of otogenic intracranial complications in relation to planned and urgent otosurgical procedures; incidence proportion of intracranial complications in relation to the total number of emergency and planned outpatient consultations and the total number of planned surgical procedures. RESULTS: There were 14 intracranial complications, 5 in the pre-COVID and 9 in the COVID cohort, including 1 and 5 sigmoid sinus thrombosis, respectively. Out of them, 3 and 5 patients reported a prior history of chronic otitis media, respectively. In COVID period, CVST was more prevalent, with 2 cases (22.2%) presenting solitary CVST, and 3 cases (33.3%) CVST and a simultaneous brain abscess or meningitis. CVST was much more frequent in the COVID period (p < 0.01). CONCLUSIONS: Despite the published data which suggest that CVST is a rare event associated with COVID-19 infection, based on our experience, CVST can be expected as a frequent component of intracranial otogenic complications during COVID-19 pandemic time. Trial registration This research study was conducted retrospectively from data obtained for clinical purposes. We consulted extensively with the Bioethics Committee at Poznan University of Medical Sciences who determined that our study did not need ethical approval. An official waiver of ethical approval was granted from the Bioethics Committee at Poznan University of Medical Sciences.


Assuntos
COVID-19 , Trombose dos Seios Intracranianos , Adulto , COVID-19/complicações , COVID-19/epidemiologia , Humanos , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Trombose dos Seios Intracranianos/epidemiologia , Trombose dos Seios Intracranianos/etiologia
10.
Clin Pract ; 11(4): 763-774, 2021 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-34698089

RESUMO

INTRODUCTION: Proper planning of laparoscopic radical prostatectomy (RP) in patients with prostate cancer (PCa) is crucial to achieving good oncological results with the possibility of preserving potency and continence. AIM: The aim of this study was to identify the radiological and clinical parameters that can predict the risk of extraprostatic extension (EPE) for a specific site of the prostate. Predictive models and multiparametric magnetic resonance imaging (mpMRI) data from patients qualified for RP were compared. MATERIAL AND METHODS: The study included 61 patients who underwent laparoscopic RP. mpMRI preceded transrectal systematic and cognitive fusion biopsy. Martini, Memorial Sloan-Kettering Cancer Center (MSKCC), and Partin Tables nomograms were used to assess the risk of EPE. The area under the curve (AUC) was calculated for the models and compared. Univariate and multivariate logistic regression analyses were used to determine the combination of variables that best predicted EPE risk based on final histopathology. RESULTS: The combination of mpMRI indicating or suspecting EPE (odds ratio (OR) = 7.49 (2.31-24.27), p < 0.001) and PSA ≥ 20 ng/mL (OR = 12.06 (1.1-132.15), p = 0.04) best predicted the risk of EPE for a specific side of the prostate. For the prediction of ipsilateral EPE risk, the AUC for Martini's nomogram vs. mpMRI was 0.73 (p < 0.001) vs. 0.63 (p = 0.005), respectively (p = 0.131). The assessment of a non-specific site of EPE by MSKCC vs. Partin Tables showed AUC values of 0.71 (p = 0.007) vs. 0.63 (p = 0.074), respectively (p = 0.211). CONCLUSIONS: The combined use of mpMRI, the results of the systematic and targeted biopsy, and prostate-specific antigen baseline can effectively predict ipsilateral EPE (pT3 stage).

11.
Cent European J Urol ; 74(3): 321-326, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34729220

RESUMO

INTRODUCTION: The study aimed to assess the suitability of multiparametric magnetic resonance prostate imaging (mpMRI) in combination with clinical parameters [prostate-specific antigen (PSA), digital rectal examination (DRE)] in the identification of men at risk of the presence of prostate cancer (PCa) and clinically significant prostate cancer (csPCa, Gleason Score ≥3+4) in the cognitive fusion with systematic prostate biopsy. MATERIAL AND METHODS: We retrospectively evaluated a population of 215 biopsy - naive patients with a clinical suspicion of prostate cancer. The results of mpMRI, DRE, PSA and biopsy were analyzed. MpMRI of the prostate according to the Prostate Imaging Reporting and Data System (PI-RADS) v.2.0 scheme preceded cognitive fusion and systematic transrectal prostate biopsy. Uni- and multivariable logistic regression analysis (MVA) was used to identify the variables determining the risk of detecting PCa overall and csPCa. RESULTS: In MVA, it was established that the combination of variables such as PSA level [odds ratio (OR) 1.195; p = 0.002], PI-RADS ≥3 (OR 7.7; p = 0.002), prostate volume (OR 0.98; p = 0.017) significantly determines the probability of PCa detection in biopsy, while for csPCa it is PSA level (OR 1.14; p = 0.004), DRE (+) (OR 5.75; p <0.001), PI-RADS ≥4 (OR 6.5; p <0.001). Analysis of mpMRI diagnostic value for PI-RADS ≥4 revealed better sensitivity (88.9% vs 82.6%) and better negative predictive value (NPV) (94.5% vs 82.4%) for detection of csPCa than for PCa overall. CONCLUSIONS: MpMRI results combining with DRE and PSA parameters help to identify men at high - or low risk of csPCa detection in the first - time biopsy.

12.
Ann Med Surg (Lond) ; 67: 102483, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34168874

RESUMO

INTRODUCTION AND IMPORTANCE: Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy of unknown etiology, characterized by impaired lymphatic vessels drainage. The pathological changes in PIL result in usually localized or diffuse dilatation of intestinal lacteals, leading to leakage of lymphatic fluid rich of proteins, lymphocytes, and immunoglobulins into the intestinal lumen. PIL may be asymptomatic or mildly symptomatic in moderate forms of the disease. In some patients, though, the outcome may be poor or even life-threatening. This case report demonstrates the severity of protein malnutrition, in some cases, and the extent of GI tract affected, requiring to start PN early and the need for its continuation as home parenteral nutrition (HPN). CASE PRESENTATION: We present a case of 39-year-old male with Factor V Leiden deficiency, who presented initially with symptoms of malnutrition and anasarca. The diagnosis was confirmed by histopathological findings pathognomonic for PIL from biopsies of the stomach, small intestine and colon. CLINICAL DISCUSSION: The patient was started on low fat, high protein parenteral nutrition from the beginning of the treatment and required a long-term HPN for 3 years, because trials of tapering off and discontinuation of PN led to worsening of the biochemical results and recurrence of symptoms. Patient gradually improved and stabilized with persistent nutritional support. CONCLUSIONS: The presented case report shows the magnitude of nutritional support (HPN) needed for severe PIL patients. HPN offers PIL patients with poor outcome and life-threatening complications a chance to improve and lead a normal life.

14.
Folia Neuropathol ; 58(1): 83-92, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32337960

RESUMO

INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, progressive ischemic disease of small vessels of the brain characterized by migraine with aura (MA), recurrent subcortical ischemic episodes, cognitive decline and psychiatric disorders. CADASIL is caused by mutations in the NOTCH3 gene. We identified the NOTCH3 Y189C mutation as a genetic cause of CADASIL in a Polish family and provided its first clinical manifestation. MATERIAL AND METHODS: The study included twelve subjects from one family. The NOTCH3 mutation, APOE and MTHFR polymorphisms were determined by high-resolution melting analyses (HRMA) and Sanger sequencing. Neuroimaging included CT and MRI. Ultrastructural examination of skin-muscle biopsy material of the proband was performed. RESULTS: The NOTCH3 Y189C mutation was present in a 36-year-old woman and her two sisters (aged 40 and 27) from 6 siblings. The MA was found in all of them, and started or became more severe after childbirth. The numerous T2/FLAIR hyperintense lesions were shown in the brain MRI. The deposition of granular osmiophilic material in the wall of small vessels of the proband observed in histopathological analysis confirmed the high degree of CADASIL severity. CONCLUSIONS: Patients with the Y189C mutation of NOTCH3 from the same family display a similar phenotype of CADASIL.


Assuntos
CADASIL/genética , Receptor Notch3/genética , Adulto , Feminino , Humanos , Mutação , Linhagem , Polônia
15.
Artigo em Inglês | MEDLINE | ID: mdl-32612575

RESUMO

Background: The mutation frequencies of pituitary transcription factors genes in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations. However, apart from PROP1 the mutation rate of other genes is low and for almost half of the patients with CPHD the routine sequencing of known genes is unsuccessful in the identification of genetic causes. Methods: A cohort of 66 sporadic and nine familial CPHD cases (80 patients in total) were subjected to initial testing of the genes PROP1, POU1F1, LHX3, LHX4, and HESX1 using a targeted gene panel and MLPA. In patients who tested negative, a whole exome sequencing approach was employed. Results: In nine of the familial cases and 32 of the sporadic patients mutations in the PROP1 gene were found (the common pathogenic variants included c.301_302delAG and c.150delA). Mutations were also found in genes so far not related directly to CPHD. A unique homozygous and clinically relevant variant was identified in the SEMA3A gene, which may contribute to neural development and his phenotypic spectrum including short stature and isolated hypogonadotropic hypogonadism (IHH). Another pathogenic variant p.A1672T was found in the IGSF10 gene reported to be responsible for delayed puberty and neuronal migration during embryogenesis. Several suspected novel but predicted benign variants were also identified for the CHD7, WDR11 and FGF17 genes. Conclusion: Although PROP1 defects account for a majority of CPHD patients, identification of rare, less frequent variants constitutes a big challenge. Multiple genetic factors responsible for CPHD are still awaiting discovery and therefore the usage of efficient genomic tools (i.e., whole exome sequencing) will further broaden our knowledge regarding pituitary development and function.


Assuntos
Hipopituitarismo/genética , Imunoglobulinas/genética , Semaforina-3A/genética , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Mutação , Linhagem , Conformação Proteica , Sequenciamento do Exoma
16.
Leuk Lymphoma ; 59(10): 2342-2351, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29424258

RESUMO

The aim of the study was to evaluate the long-term neurodevelopmental consequences of currently applied acute lymphoblastic leukemia (ALL) therapy containing chemotherapy alone or combined with 12 Gy radiotherapy. Seventy-nine children aged 6.3-21.7 years diagnosed with ALL and treated according to ALL IC-BFM 2002 have been studied. The control group consisted of 23 children newly diagnosed with ALL. We assessed subcortical gray matter volume using automatic MRI segmentation and cognitive performance to identify differences between three therapeutic schemes and patients prior to treatment. Irradiated patients had smaller selected subcortical volumes than those treated with chemotherapy alone and than the controls, while the chemotherapy group had similar volumes as the control one. In neurocognitive assessment, irradiated children performed worse in major domains than the control group. There were no significant results for patients after high dose chemotherapy without radiotherapy. There was a significant relationship between full scale IQ together with verbal learning and volumes of hippocampus, amygdala, and pallidum. In all children treated for ALL, both decreased volume of selected subcortical structures and cognitive impairment were observed, especially in children who were irradiated.


Assuntos
Sobreviventes de Câncer/estatística & dados numéricos , Quimiorradioterapia/efeitos adversos , Transtornos Cognitivos/epidemiologia , Síndromes Neurotóxicas/epidemiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Adulto , Antimetabólitos Antineoplásicos/administração & dosagem , Antimetabólitos Antineoplásicos/efeitos adversos , Encéfalo/diagnóstico por imagem , Encéfalo/efeitos dos fármacos , Encéfalo/patologia , Encéfalo/efeitos da radiação , Estudos de Casos e Controles , Quimiorradioterapia/métodos , Criança , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/etiologia , Irradiação Craniana/efeitos adversos , Irradiação Craniana/métodos , Relação Dose-Resposta a Droga , Relação Dose-Resposta à Radiação , Feminino , Humanos , Testes de Inteligência , Imageamento por Ressonância Magnética , Masculino , Metotrexato/administração & dosagem , Metotrexato/efeitos adversos , Síndromes Neurotóxicas/diagnóstico , Síndromes Neurotóxicas/etiologia , Tamanho do Órgão , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Dosagem Radioterapêutica , Resultado do Tratamento , Adulto Jovem
17.
Artigo em Inglês | MEDLINE | ID: mdl-30459711

RESUMO

Cardiovascular defects occur in 50% of patients with Turner syndrome (TS). The aim of the study was to estimate the usefulness of cardiac magnetic resonance imaging (CMR) and magnetic resonance angiography (angio-MR) as diagnostics in children and adolescents with TS. Forty-one females with TS, aged 13.9 ± 2.2 years, were studied. CMR was performed in 39 patients and angio-MR in 36. Echocardiography was performed in all patients. The most frequent anomalies diagnosed on CMR and angio-MR were as follows: elongation of the ascending aorta (AA) and aortic arch, present in 16 patients (45.7%), a bicuspid aortic valve (BAV), present in 16 patients (41.0%), and partial anomalous pulmonary venous return (PAPVR), present in six patients (17.1%). Aortic dilatation (Z-score > 2) was mostly seen at the sinotubular junction (STJ) (15 patients; 42.8%), the AA (15 patients; 42.8%), the thoracoabdominal aorta at the level of a diaphragm (15 patients; 42.8%), and the transverse segment (14 patients; 40.0%). An aortic size index (ASI) above 2.0 cm/m2 was present in six patients (17.1%) and above 2.5 cm/m2 in three patients (8.6%). The left ventricular end-diastolic volume (EDV), end-systolic volume (ESV), and stroke volume (SV) were diminished (Z-score < -2) in 10 (25.6%), 9 (23.1%), and 8 patients (20.5%), respectively. A webbed neck was correlated with the presence of vascular anomalies (p = 0.006). The age and body mass index (BMI) were correlated with the diameter of the aorta. Patients with BAV had a greater aortic diameter at the ascending aorta (AA) segment (p = 0.026) than other patients. ASI was correlated with aortic diameter and descending aortic diameter (AD/DD) ratio (p = 0.002; r = 0.49). There was a significant correlation between the right ventricular (p = 0.002, r = 0.46) and aortic diameters at the STJ segment (p = 0.0047, r = 0.48), as measured by echocardiography and CMR. Magnetic resonance can identify cardiovascular anomalies, dilatation of the aorta, pericardial fluid, and functional impairment of the ventricles not detected by echocardiography. BMI, age, BAV, and elongation of the AA influence aortic dilatation. The ASI and AD/DD ratio are important markers of aortic dilatation. The performed diagnostics did not indicate a negative influence of GH treatment on the cardiovascular system.

19.
Eur J Gastroenterol Hepatol ; 28(6): 722-30, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26894632

RESUMO

OBJECTIVE: The combination of clinical remission and mucosal healing represents a major goal of different treatment strategies for ulcerative colitis (UC). This study aimed to assess which of the endoscopic indices used to evaluate mucosal changes in UC are correlated with clinical indices currently used to determine disease activity, as well as which of the endoscopic indices are correlated with the Geboes Index used for histological evaluation. It also aimed to find correlations between the currently used clinical activity indices and the histological Geboes Index. METHODS: A group of 49 patients with a confirmed diagnosis of UC and a group of 52 individuals without a diagnosis of gastrointestinal disease, who constituted the control group, were investigated. All patients were evaluated by colonoscopy, and the severity of mucosal changes was scored in terms of nine different endoscopic indices commonly used in both pharmacological trials and clinical practice. Evaluation was also carried out using clinical and histological indices. Endoscopic indices used for UC were then correlated with different clinical and histological indices to find the strongest correlations. RESULTS AND CONCLUSION: A high correlation was demonstrated between three of the 11 evaluated clinical indices - Improvement Based on Individual Symptom Scores, Ulcerative Colitis Disease Activity Index, and Schroeder Index - and all nine endoscopic indices - Ulcerative Colitis Endoscopic Index of Severity, Baron Score, Schroeder Index, Feagan Index, Powell-Tuck Index, Rachmilewitz Index, Sutherland Index, Lofberg Index, and Lemman Index. Improvement Based on Individual Symptom Scores was the index with the highest correlation with all the endoscopic indices used for UC. The above indices are recommended for clinical evaluation of UC activity. The Ulcerative Colitis Endoscopic Index of Severity was moderately correlated with a histological index, and it is therefore recommended for routine endoscopic mucosal evaluation in patients with UC.


Assuntos
Colite Ulcerativa/patologia , Colonoscopia , Mucosa Intestinal/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Colite Ulcerativa/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Adulto Jovem
20.
Gastroenterol Res Pract ; 2016: 7896478, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26997952

RESUMO

Background. Assessment of endoscopic activity of Crohn's disease (CD) is of growing importance both in clinical practice and in clinical trials. The study aimed to assess which of the endoscopic indices used for evaluation of mucosal changes correlates with the currently used clinical indices for determination of disease activity and with the results of histopathological examination. Study. A group of 71 patients with CD and 52 individuals without a diagnosis of GI tract disease as a control group were investigated, considering clinical and histological severity of the disease and the severity of inflammatory changes in the bowel. Evaluation was conducted with the use of clinical, endoscopic, and histopathological indices. Endoscopic indices were then correlated with different clinical and histopathological indices with the aim of finding the strongest correlations. Results and Conclusions. Correlation between the clinical disease activity and the severity of endoscopic lesions in CD was shown in this study to be poor. The results also indicate that the optimal endoscopic index used in the diagnostic stage and in the assessment of treatment effects in CD is Simple Endoscopic Score for Crohn's Disease (SES-CD).

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