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1.
BMC Pediatr ; 24(1): 382, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38831258

RESUMO

BACKGROUND: Osteosarcoma is the most common primary malignant bone tumour in children and adolescents. Lungs are the most frequent and often the only site of metastatic disease. The presence of pulmonary metastases is a significant unfavourable prognostic factor. Thoracotomy is strongly recommended in these patients, while computed tomography (CT) remains the gold imaging standard. The purpose of our study was to create tools for the CT-based qualification for thoracotomy in osteosarcoma patients in order to reduce the rate of useless thoracotomies. METHODS: Sixty-four osteosarcoma paediatric patients suspected of lung metastases on CT and their first-time thoracotomies (n = 100) were included in this retrospective analysis. All CT scans were analysed using a compartmental evaluation method based on the number and size of nodules. Calcification and location of lung lesions were also analysed. Inter-observer reliability between two experienced radiologists was assessed. The CT findings were then correlated with the histopathological results of thoracotomies. Various multivariate predictive models (logistic regression, classification tree and random forest) were built and predictors of lung metastases were identified. RESULTS: All applied models proved that calcified nodules on the preoperative CT scan best predict the presence of pulmonary metastases. The rating of the operated lung on the preoperative CT scan, dependent on the number and size of nodules, and the total number of nodules on this scan were also found to be important predictors. All three models achieved a relatively high sensitivity (72-92%), positive predictive value (81-90%) and accuracy (74-79%). The positive predictive value of each model was higher than of the qualification for thoracotomy performed at the time of treatment. Inter-observer reliability was at least substantial for qualitative variables and excellent for quantitative variables. CONCLUSIONS: The multivariate models built and tested in our study may be useful in the qualification of osteosarcoma patients for metastasectomy through thoracotomy and may contribute to reducing the rate of unnecessary invasive procedures in the future.


Assuntos
Neoplasias Ósseas , Neoplasias Pulmonares , Osteossarcoma , Toracotomia , Tomografia Computadorizada por Raios X , Humanos , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/cirurgia , Osteossarcoma/secundário , Osteossarcoma/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Neoplasias Pulmonares/secundário , Neoplasias Pulmonares/patologia , Adolescente , Criança , Estudos Retrospectivos , Masculino , Feminino , Neoplasias Ósseas/secundário , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/cirurgia
2.
Fetal Diagn Ther ; 50(4): 269-275, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37393895

RESUMO

INTRODUCTION: Sprengel's deformity is a rare congenital anomaly of the shoulder rim. It is the most common congenital anomaly of the shoulder, associated with cosmetic deformity and abnormal shoulder function. Nonsurgical management can be considered for mild cases. Surgical intervention is indicated in moderate to severe cases with the goal of improving cosmetic appearance and function. The best surgical results are obtained in children aged 3-8 years. Correct diagnosis is very important because Sprengel's deformity can be accompanied by additional abnormalities, even in mild cases, and lack of a diagnosis delays proper treatment of the child. The severity of the defect may progress, so it is important to correctly identify children with Sprengel's deformity, even those with a mild form of the defect. CASE PRESENTATION: We report a case of prenatal sonographic diagnosis of Sprengel's deformity with additional features, as yet undescribed and missed - although visible - on prenatal magnetic resonance imaging (MRI). Cesarean delivery was performed due to preterm rupture of membranes, and a postnatal MRI confirmed the unusual constellation of Sprengel's anomaly with lateral meningocele, vestigial posterior meningocele, and lipoma tethering of the cord to the dural sac at the cervical-thoracic junction. CONCLUSION: Diagnosis of Sprengel's deformity is possible with prenatal ultrasound. Asymmetry of the cervical spine, discontinuity of the vertebral arch and abnormal vertebral bodies, as well as the asymmetric position of the shoulder blades with the presence of an omovertebral bone are signs that can help diagnose the defect.


Assuntos
Anormalidades Congênitas , Meningocele , Articulação do Ombro , Criança , Recém-Nascido , Feminino , Gravidez , Humanos , Escápula/anormalidades , Escápula/cirurgia , Articulação do Ombro/diagnóstico por imagem , Articulação do Ombro/cirurgia , Articulação do Ombro/anormalidades , Imageamento por Ressonância Magnética , Anormalidades Congênitas/diagnóstico
3.
Am J Hum Genet ; 105(5): 1005-1015, 2019 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-31630790

RESUMO

Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies are highly enriched for genes encoding microtubules and microtubule-associated proteins, and this enrichment highlights the critical role for these genes in cortical growth and gyrification. Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay. GCP2 forms the multiprotein γ-tubulin ring complex (γ-TuRC) together with γ-tubulin and other GCPs to regulate the assembly of microtubules. By querying clinical exome sequencing cases and through GeneMatcher-facilitated collaborations, we found three additional families with bi-allelic variation and similarly affected phenotypes including a homozygous variant (c.1843G>C [p.Ala615Pro]) in two families and compound heterozygous variants consisting of one missense variant (c.889C>T [p.Arg297Cys]) and one splice variant (c.2025-2A>G) in another family. Brain imaging from all five affected individuals revealed varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, presumably caused by disruption of neuronal migration. Our data demonstrate that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder, and our data implicate GCP2 as a core component of γ-TuRC in neuronal migrating cells.


Assuntos
Variação Genética/genética , Lisencefalia/genética , Microcefalia/genética , Proteínas Associadas aos Microtúbulos/genética , Alelos , Encéfalo/metabolismo , Movimento Celular/genética , Criança , Exoma/genética , Feminino , Homozigoto , Humanos , Masculino , Microtúbulos/genética , Malformações do Sistema Nervoso/genética , Neurônios/metabolismo , Fenótipo , Tubulina (Proteína)/genética
4.
Int J Mol Sci ; 23(2)2022 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-35054877

RESUMO

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (ß-actin) or ACTG1 (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness. Both ACTG1-related non-syndromic A20/A26 deafness and B-WS diagnoses are characterized by hypervariable penetrance in phenotype. Here, we identify a 28th patient worldwide carrying a mutated γ-actin ACTG1 allele, with mildly manifested cerebrofrontofacial B-WS traits, hypervariable penetrance of developmental traits and sensorineural hearing loss. This patient also displays brachycephaly and a complete absence of speech faculty, previously unreported for ACTG1-related B-WS or DFNA20/26 deafness, representing phenotypic expansion. The patient's exome sequence analyses (ES) confirms a de novo ACTG1 variant previously unlinked to the pathology. Additional microarray analysis uncover no further mutational basis for dual molecular diagnosis in our patient. We conclude that γ-actin c.542C > T, p.Ala181Val is a dominant pathogenic variant, associated with mildly manifested facial and cerebral traits typical of B-WS, hypervariable penetrance of developmental traits and sensorineural deafness. We further posit and present argument and evidence suggesting ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS.


Assuntos
Actinas/genética , Surdez/genética , Transtornos do Crescimento/genética , Hidrocefalia/genética , Deficiência Intelectual Ligada ao Cromossomo X/genética , Mutação/genética , Obesidade/genética , Adulto , Algoritmos , Sequência de Bases , Surdez/complicações , Surdez/diagnóstico por imagem , Fácies , Genótipo , Transtornos do Crescimento/complicações , Transtornos do Crescimento/diagnóstico por imagem , Humanos , Hidrocefalia/complicações , Hidrocefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Deficiência Intelectual Ligada ao Cromossomo X/complicações , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico por imagem , Obesidade/complicações , Obesidade/diagnóstico por imagem , Linhagem , Fenótipo
5.
BMC Pediatr ; 21(1): 146, 2021 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-33773571

RESUMO

BACKGROUND: Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected T2-hyperintense cerebral white matter and are called "tigroid pattern" in the literature. The fornix is a tiny white matter fibers bundle playing crucial role in cognitive functioning, easily overlooked on magnetic resonance imaging and not described in inborn errors of metabolism. CASE PRESENTATION: We present a case of glutaric aciduria type 1 with a follow-up of over nine years. The course of the disease is presented in three magnetic resonance scans at the age of 8 and 21 months, and 10 years, with diffusion restriction in the fornix in scan 1 and 2 and with tigroid pattern in scan 3. Despite appropriate diet and supplementation, injury of white matter progressed achieving diffuse stage with tigroid pattern. Psychological tests revealed deficits in patient's specific cognitive skills, most likely related to damage to the fornix. CONCLUSIONS: To our knowledge, this is the first report of tigroid pattern of white matter involvement in glutaric aciduria type 1 and the first report of forniceal injury in this disease which seems to be correlated with patient's low functioning in all kinds of memory skills, previously not reported in glutaric aciduria type 1.


Assuntos
Glutaratos , Leucoencefalopatias , Erros Inatos do Metabolismo dos Aminoácidos , Encéfalo/diagnóstico por imagem , Encefalopatias Metabólicas , Glutaril-CoA Desidrogenase/deficiência , Humanos , Leucoencefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética
6.
Pol J Pathol ; 72(2): 174-179, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34706526

RESUMO

Gorham-Stout disease (GSD) is a very rare entity of unknown etiology, characterized by excessive intra-osseous proliferation of blood or lymphatic vessels, resulting in progressive resorption of bone matrix and destruction of bone. To date we have found only seven published cases concerning fully confirmed GSD of the shoulder girdle bones in children. Our case concerns an 8-year-old boy with involvement of the left clavicle and scapula. The knowledge of imaging and histopathological features is crucial for establishing the diagnosis of GSD, therefore the exchange of experiences in this field is essential for improving the care of affected patients.


Assuntos
Osteólise Essencial , Criança , Clavícula/diagnóstico por imagem , Humanos , Masculino , Osteólise Essencial/diagnóstico por imagem , Escápula/diagnóstico por imagem , Ombro
7.
Pol J Radiol ; 86: e415-e424, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34429788

RESUMO

PURPOSE: Arterial spin labeling (ASL) is a noninvasive non-contrast technique of perfusion imaging that uses endogenous water from the blood as the perfusion tracer, with very scant data on its use in neonates. The authors present the added value of ASL in the examined babies in their own material and discuss it in the light of the existing literature. MATERIAL AND METHODS: During the first 10 months after the purchase of a new magnetic resonance imaging (MRI) scanner, 123 neonates were examined using it in an MR-compatible incubator, 117 of them had brain MRI, and in 104 ASL was incorporated in the routine protocol, which resulted in prolongation of the study time by approximately 4 minutes. 3D ASL sequence uses Pulsed Continuous Arterial Spin Labeling (PCASL; aka pseudo continuous) technique. RESULTS: The quality of the cerebral blood flow (CBF) maps was good in all cases but 2 because all the babies were sedated. Apart from the knowledge about normal perfusion patterns in the preterm and term neonatal brains, the use of ASL sequence provided important additional information in 11 cases (10.8%): increased CBF correlating with electroencephalographic seizure localization in otherwise normal MRI (n = 1), increased CBF in the cortex without clinical information about seizures and with posthaemorrhagic changes (n = 1), increased CBF in the brain stem and decreased in the upper parts of the brain (n = 2), probably reflecting the homeostatic mechanism which allows preferential perfusion of the vital structures of the brain stem, hypoperfusion (n = 1) or hypoperfusion with peripheral hyperperfusion (n = 1) in the area of stroke, hypoperfusion of the posterior areas of the brain in the presence of subarachnoid or epidural haemorrhage (n = 3), significantly increased CBF in the presumed nidus of arteriovenous malformation causing haemorrhage (n = 1), and lack of perfusion in the supratentorial compartment in a case of suspected brain death (n = 1). CONCLUSIONS: Our short experience but relatively large volume of material encourages the use of ASL in routine neonatal MRI as a useful and non-time-consuming tool providing additional important clinical information in a significant percentage of cases.

8.
Am J Hum Genet ; 99(1): 188-94, 2016 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-27292112

RESUMO

In the PI(3,5)P2 biosynthetic complex, the lipid kinase PIKFYVE and the phosphatase FIG4 are bound to the dimeric scaffold protein VAC14, which is composed of multiple heat-repeat domains. Mutations of FIG4 result in the inherited disorders Charcot-Marie-Tooth disease type 4J, Yunis-Varón syndrome, and polymicrogyria with seizures. We here describe inherited variants of VAC14 in two unrelated children with sudden onset of a progressive neurological disorder and regression of developmental milestones. Both children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibited striatal abnormalities on MRI. A diagnosis of Leigh syndrome was rejected due to normal lactate profiles. Exome sequencing identified biallelic variants of VAC14 that were inherited from unaffected heterozygous parents in both families. Proband 1 inherited a splice-site variant that results in skipping of exon 13, p.Ile459Profs(∗)4 (not reported in public databases), and the missense variant p.Trp424Leu (reported in the ExAC database in a single heterozygote). Proband 2 inherited two missense variants in the dimerization domain of VAC14, p.Ala582Ser and p.Ser583Leu, that have not been previously reported. Cultured skin fibroblasts exhibited the accumulation of vacuoles that is characteristic of PI(3,5)P2 deficiency. Vacuolization of fibroblasts was rescued by transfection of wild-type VAC14 cDNA. The similar age of onset and neurological decline in the two unrelated children define a recessive disorder resulting from compound heterozygosity for deleterious variants of VAC14.


Assuntos
Alelos , Proteínas de Membrana/genética , Mutação , Doenças do Sistema Nervoso/genética , Idade de Início , Sequência de Aminoácidos , Criança , Pré-Escolar , Exoma/genética , Éxons/genética , Feminino , Genes Recessivos , Heterozigoto , Humanos , Lactente , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Proteínas de Membrana/química , Mutação de Sentido Incorreto/genética , Linhagem
10.
Pol J Radiol ; 84: e68-e72, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31019597

RESUMO

PURPOSE: Hypertrophic olivary degeneration (HOD) is a unique neurological condition caused by interruption of the dentato-rubro-olivary pathway, also known as the triangle of Guillain and Mollaret. Magnetic resonance (MR) imaging is the best modality to diagnose both the degeneration of the inferior olivary nucleus and the underlying cause. CASE REPORT: We describe a case of a unilateral HOD in a 16-year-old girl several months after a subtotal excision of a brainstem pilocytic astrocytoma. Taking into account the patient's history, tumour recurrence must have been considered, but the typical location and MR morphology, as well as the time of occurrence after brainstem surgery, contributed to the diagnosis of HOD. The causative factor was the interruption of the central tegmental tract, which forms one arm of the Guillain and Mollaret triangle. Additionally, this is an interesting case of a child, who stayed in a coma for several months following brainstem surgery, but finally was discharged home with only minor neurological defects and returned to normal life. CONCLUSIONS: Hypertrophic olivary degeneration is an infrequent neurological condition, especially in the paediatric population. Nevertheless, it should be considered when interpreting late postoperative scans of children with a history of a brain tumour.

11.
J Hum Genet ; 63(4): 473-485, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29410512

RESUMO

Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of the exceptions being PARS2 mutations for which pathogenic significance is not finally validated. The aim of the study was to characterize the PARS2- related phenotype.Three siblings with biallelic PARS2 mutations presented from birth with infantile spasms, secondary microcephaly, and similar facial dysmorphy. Mental development was deeply impaired with speech absence and no eye contact. A dilated cardiomyopathy and multiorgan failure developed in childhood at the terminal stage, together with mitochondrial dysfunction triggered by valproate administration.Brain MRI showed progressive volume loss of the frontal lobes, both cortical and subcortical, with widening of the cortical sulci and frontal horns of the lateral ventricles. Hypoplasia of the corpus callosum and progressive demyelination were additional findings. Similar brain features were seen in three already reported PARS2 patients and seemed specific for this defect when compared with other mt-aaRSs defects (DARS2, EARS2, IARS2, and RARS2).Striking resemblance of the phenotype and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS) in six patients from three families of different ethnicity with PARS2 mutations, justifies to distinguish the condition as a new disease entity.


Assuntos
Alelos , Aminoacil-tRNA Sintetases/genética , Estudos de Associação Genética , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Mutação , Fenótipo , Aminoacil-tRNA Sintetases/química , Biomarcadores , Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Eletroencefalografia , Fácies , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Modelos Moleculares , Linhagem , Conformação Proteica , Sequenciamento do Exoma
12.
Ginekol Pol ; 89(5): 262-270, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30084478

RESUMO

OBJECTIVES: The role of magnetic resonance imaging, similarly to ultrasound, in the evaluation of foetal anomalies is in-disputable. This gives rise to a question, whether prenatal diagnostics can replace postnatal one. To assess the diagnostic accuracy of foetal MRI in children with congenital anomalies by using postnatal MRI, X-ray/US and surgery (histopathol-ogy/autopsy) results as a reference standard. MATERIAL AND METHODS: 110 children were included in the analysis. All of them underwent foetal MRI, and the diagnoses were verified after birth. All the results were analysed both by: 1. evaluation of correctness of the prenatal diagnosis with the reference standard diagnosis of each patient, and 2. statistical evaluation of prenatal diagnosis using standard measures of binary diagnostic tests' abilities. RESULTS: The accordance of prenatal and final diagnoses was 70%. Only 3.64% of patients were misdiagnosed. Most of the prenatal diagnoses that were incomplete (23.64%), concerned children who underwent surgery, and among them patients with abdominal cystic laesions of undetermined origin on foetal MRI constituted the majority. In 2.73% of cases prenatal diagnoses remained inconclusive. CONCLUSIONS: High correlation of prenatal and postnatal tests' results in the study material confirms the high value of foetal MRI in perinatal diagnostics. Comprehensive assessment of the foetus in prenatal MRI is very effective and facilitates impor-tant therapeutic decisions in the prenatal period (in utero treatment) and in perinatal care (application or withdrawal from the EXIT procedure, surgery or backtracking from neonatal resuscitation if it should bear the hallmarks of persistent therapy).


Assuntos
Anormalidades Congênitas/diagnóstico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Cuidado Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos
13.
Dev Period Med ; 22(1): 39-48, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29641420

RESUMO

OBJECTIVE: Infants ≤28 GA are at particular risk of psychomotor and neurological developmental disorder. They also remain at a higher risk of developing autism spectrum disorder (ASD), characterized by persistent deficits in communication/social interactions and restricted, repetitive behaviors, activities and interests. Monitoring their development by a team of specialists (a neurologist, psychologist, psychiatrist) allows us to make an early diagnosis and to implement appropriate therapy. Neuroimaging studies during the neonatal period may be helpful in clarifying diagnosis and prognosis. Objective: The aim of the study was to search for the interrelation between the results of neuroimaging and the neurological, psychological and psychiatric evaluation at the age of 2. PATIENTS AND METHODS: Material and methods: Neonates born at ≤28 weeks between 01.06.2013 and 31.12.2015 and hospitalized at NICU were enrolled. We present the results of the first 12 children who have attained 2 years of corrected age and have undergone both neuroimaging, and neurological, psychological and psychiatric assessments. Transfontanel ultrasound was performed according to general standards, MRI between 38 and 42 weeks of corrected age. Neurological examination based on the Denver scale, ASD screening with use of the STAT test and psychological DSR assessment were performed at 2 years of corrected age. RESULTS: Results: Median GA was 26 weeks and median weight 795 g. The ultrasound examination was normal in 9 cases (75%) and MRI in 4 (33%). Abnormalities in the cerebellum were the main additional information found in MRI as compared to US. Neurological examination was normal in 8 infants (67#37;), in 4 of whom neuroimaging was normal. In 4 (33%) infants the neurological examination was abnormal. Psychomotor development at an average level or above was found in seven (58#37;) children. In 4 of them neuroimaging was normal, whereas 3 had ventricular dilatation and haemorrhagic infarct. There were no abnormalities within the cerebellum in this group. In the remaining 5 children (42#37;) psychomotor development was rated as delayed. All of them had cerebellar haemorrhage. An increased risk of ASD was observed in 4 children who developed cerebellar hemorrhage. CONCLUSION: Conclusions: 1. The use of MRI at a term-equivalent age may contribute to the prognosis of neurodevelopmental outcomes in extremely premature infants, allowing risk stratification and thus enhancing early monitoring of a child's development and functional status 2. There is a clear tendency towards abnormal psychomotor development and positive screening for ASD to co-occur with abnormal MRI findings in the cerebellum.


Assuntos
Transtorno do Espectro Autista/fisiopatologia , Encéfalo/crescimento & desenvolvimento , Neuroimagem , Transtornos Psicomotores/fisiopatologia , Transtorno do Espectro Autista/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Pré-Escolar , Feminino , Humanos , Lactente Extremamente Prematuro , Imageamento por Ressonância Magnética , Masculino , Dados Preliminares , Estudos Prospectivos , Transtornos Psicomotores/diagnóstico por imagem , Ultrassonografia
15.
Pol J Radiol ; 83: e94-e102, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30038684

RESUMO

PURPOSE: The purpose of this paper is to summarise and to present the experience of the main Polish centre for prenatal magnetic resonance imaging (MRI) and to discuss the place and role of MRI in antenatal diagnosis, management, and counselling. MATERIAL AND METHODS: Retrospective analysis of the examinations performed in the years 2001-2017. RESULTS: In total, 1221 medical records and/or image files were collected. The full documentation of ultrasonography and MRI referrals, reports, and images was not available in every case. During the first three years 98 pregnant women were examined (approximately 33 per year, one study per fortnight). After purchase of own MR scanner, the number of examinations grew constantly, reaching 208 in 2017, which means almost one per day, and the highest number was eight in one day. We examined 45 pairs of twins, including three pairs of conjoined twins. CONCLUSIONS: MRI at our Institute is a practically used second-line foetal imaging tool, necessary to confirm, complete, or correct sonographic diagnoses, with important impact on clinical decisions concerning management of pregnancy and of the neonate, termination of pregnancy, choice of the time, place, and mode of delivery, and neonatal care, as well as on counselling. In experienced hands, MRI is to date the last and the best non-invasive method of diagnosis in utero. It is frequently requested by the interdisciplinary team for foetal diagnosis and therapy and routinely performed in everyday practice.

16.
Pol J Radiol ; 82: 220-226, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28507642

RESUMO

BACKGROUND: Presentation of magnetic resonance imaging (MRI) findings in pregnant women in the Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland. MATERIAL/METHODS: Forty-three symptomatic pregnant women underwent MRI between 9 and 33 weeks of gestation (mean of 23 weeks). Moreover, we included 2 pregnant women who underwent fetal MRI and had incidental abnormalities. RESULTS: In 9 cases, we excluded the suspected brain abnormalities. In 4 cases, we found unremarkable changes in the brain without clinical significance. One patient was diagnosed with multiple sclerosis, one with cortical dysplasia, one with pineal hemorrhage and one with a brain tumor. On abdominal MRI, 2 patients had normal findings, one patient had colon cancer with a hepatic metastasis, one patient had a hepatic angioma, one patient had an extraadrenal pheochromocytoma, one patient had an abscess in the iliopsoas muscle, 9 patients had myomas, two patients had ovarian simple cysts, two endometrial cysts, three dermoid cysts, one patient had sacrococcygeal teratoma, one patient had a cystadenofibroma (partial borderline tumor), one patient had an androgenic ovarian tumor and two patients had hyperreactio luteinalis. One patient was diagnosed with transient osteoporosis of the hip and one with a stress fracture of the sacral bone. CONCLUSIONS: Magnetic resonance imaging is the best imaging modality for pregnant women. Although ultrasonography is the method of choice, doubtful cases as well as structures that cannot be examined with ultrasonography can be non-invasively evaluated with MRI.

17.
Pol J Radiol ; 82: 227-232, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28507643

RESUMO

BACKGROUND: Tumors of the developmental age are an important problem in clinical practice. Primary bone tumors constitute 1-1.5% of all tumors, and 7% of all tumors diagnosed in the developmental age. The aim of the study was to assess the capabilities of imaging methods in diagnosing complications of limb endoprostheses in children with osteoarticular tumors. MATERIAL/METHODS: We included 155 patients with limb endoprostheses, aged 7-26 years. There were 113 patients with knee prostheses, 1 patient with bilateral knee prostheses, 16 patients with shoulder prostheses, 14 patients with hip prostheses, 11 patients with hip and knee prostheses, and 1 patient with a femoral prosthesis. All patients underwent plain radiography and an ultrasound study. RESULTS: Complications were found in 50 patients (32% of all patients). The following complications were seen - inflammatory changes in soft tissues and bones (12 patients, 7.7%), stump fractures (11 patients, 7%), lack of elongation effect or shortening of the prosthesis (7 patients, 4.5%), prosthesis fractures (4 patients, 2.5%), crural fractures (4 patients, 2.5%), loosening of the prosthesis (3 patients, 1.9%), joint dislocation (2 patients, 1.3%), stump and prosthesis fracture (1 patient, 0.6%) and local recurrence (6 patients, 3.9%). Prostheses were exchanged for the following reasons - fractures (5 patients, 3.2%), inflammation (2 patients with 3 exchanges, 1.9%). Local recurrence and inflammation were confirmed by a biopsy. CONCLUSIONS: Radiography and ultrasonography are of crucial importance in monitoring patients after implantation of limb endoprostheses. The findings did not require confirmation in additional studies: CT and MRI. Suspicion of local recurrence and inflammation required a biopsy confirmation.

19.
Radiol Med ; 121(9): 719-28, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27255502

RESUMO

INTRODUCTION: One of the aims of fetal magnetic resonance imaging (MRI) is to avoid postnatal scanning. However, clinicians sometimes wish to have postnatal confirmation of prenatal findings. This study's purpose was to check whether there was indeed the added value of neonatal MRI performed in the MR-compatible incubator (INC) after fetal examination. MATERIALS AND METHODS: Material consists of 25 neonates (14 girls) who underwent prenatal and postnatal MRI in a 1.5 T scanner, the latter in INC. Mean time of prenatal MRI was 30th gestational week, of postnatal MRI-16th day of life. RESULTS: In 14 cases (56 %) postnatal findings were the same as prenatal ones. In 11 (44 %) postnatal MRI showed some different/new/more precise results, in two the differences were attributed to other factors than the advantage of postnatal MRI over prenatal one. Altogether then postnatal results were partly discordant with prenatal ones in 9/25 cases (36 %). CONCLUSIONS: In most cases there was no added value of postnatal MRI as compared to prenatal one. This value lied in small details that could not have been noticed on prenatal MRI or required contrast medium administration to be noticed. On the other hand, MR examination performed with use of the dedicated neonatal coils in the MR-compatible incubator is a safe and reliable method of visualization of these small details with better spatial resolution thus helping to establish final diagnosis, treatment plan and prognosis.


Assuntos
Doenças Fetais/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Feminino , Humanos , Incubadoras , Recém-Nascido , Masculino , Gravidez
20.
Pol J Radiol ; 81: 325-30, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27471577

RESUMO

BACKGROUND: The purpose of the study was to evaluate the percentage of unjustified examinations among all the CT and MRI studies performed by two radiology departments and to determine the types of examinations which are most commonly carried out unnecessarily. MATERIAL/METHODS: Three radiologists assessed the justification of CT and MRI examinations performed during a period of 14 days based on the referrals. The radiologists assessed 799 referrals for CT scans (847 examinations of a particular part of the body) and 269 MRI referrals (269 examinations). The criteria for justification were: medical expertise and the guidelines. During the first stage radiologists divided the examinations into 3 groups: justified, unjustified and the examinations of questionable justification. The second step was to determine the reasons why the studies were considered as unjustified or of questionable justification. RESULTS: 73 of 1116 examinations (6.54%) were considered to be unjustified or of a questionable justification. There were 59 CT scans (59/847=6.97%) and 14 MRI studies (14/269=5.20%). The most common reasons to consider them as unjustified or of questionable justification were: inadequate method of diagnostic imaging chosen as a first-line tool and lacking or insufficient clinical details. CONCLUSIONS: In our investigation 6.54% of both CT and MRI examinations were considered as unjustified or of questionable justification, which is lower than described in other studies (from 7% to 26%). The assessment was based only on referrals, therefore a total share of these examinations is likely to be higher.

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