scholarly journals The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy

2021 ◽  
Vol 11 ◽  
Author(s):  
Veronka Horber ◽  
Ute Grasshoff ◽  
Elodie Sellier ◽  
Catherine Arnaud ◽  
Ingeborg Krägeloh-Mann ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Genetic Testing ◽  
Genetic Factors ◽  
Genetic Diagnostics ◽  
Resonance Imaging ◽  
Genetic Origin ◽  
Cerebral Magnetic Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Step

Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin.

scholarly journals Are the Morphological Indices of the Vertebrobasilar System Heritable? A Twin Study Based on 3D Reconstructed Models

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 127
Author(s):  
Laszlo Szalontai ◽  
Zsofia Jokkel ◽  
Tamas Horvath ◽  
Marton Piroska ◽  
Bianka Forgo ◽  
...  
Keyword(s):  
Vertebral Artery ◽  
Flow Characteristics ◽  
Resonance Imaging ◽  
Cerebral Magnetic Resonance Imaging ◽  
3D Mesh ◽  
Vertebrobasilar System ◽  
Mri Scans ◽  
Morphological Indices ◽  
Magnetic Resonance Imaging Mri

Background and Objectives: The asymmetrical vertebral artery (VA) flow and diameter are common findings, which can result in an asymmetrical blood flow in the basilar artery (BA), leading to bending of the artery over time. This study investigated whether the variation of the different vertebrobasilar morphological indices that influence flow characteristics might be inherited. Materials and Methods: We analyzed 200 cerebral magnetic resonance imaging (MRI) scans of healthy Caucasian twins (100 pairs) who underwent time-of-flight MRI. From the scans, we reconstructed the 3D mesh of the posterior circulation from the start of the V4 segment to the basilar tip and subsequently analyzed the morphology of the vertebrobasilar system. The phenotypic covariances of the different morphological parameters were decomposed into heritability (A), shared (C), and unshared (E) environmental effects. Results: 39% of the twins had left dominant VA, while 32.5% had right dominant. In addition, 28.5% were classified as equal. The vertebral artery V4 segment diameter, curvature, and tortuosity were mainly influenced by shared (C) and unshared (E) environmental factors. A moderate heritability was found for the BA length (A: 63%; 95% CI: 45.7–75.2%; E: 37%; 95% CI: 24.8–54.3%) and volume (A: 60.1%; 95% CI: 42.4–73.2%; E: 39.9%; 95% CI: 26.8–57.6%), while the torsion of both arteries showed no heritability and were only influenced by the unshared environment. Conclusions: The length and volume of the BA show a moderate genetical influence. However, most of the measured morphological indices were influenced by shared and unshared factors, which highlight the role of the ever-changing hemodynamic influences shaping the geometry of the vertebrobasilar system.

The role of magnetic resonance imaging for early prediction of cerebral palsy

2008 ◽  
Vol 12 ◽  
pp. S75
Author(s):  
G. Hnatyszyn ◽  
M.B. Czeszyńska ◽  
L. Cyryłowski ◽  
H. Konefał ◽  
O. Szmigiel ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebral Palsy ◽  
Magnetic Resonance ◽  
Early Prediction ◽  
Resonance Imaging

scholarly journals Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia

2021 ◽  
Author(s):  
Krithika Rangarajan ◽  
Manisha Jana ◽  
Nagesh Wadgera ◽  
Arun Kumar Gupta ◽  
Minu Bajpai ◽  
...  
Keyword(s):  
Gold Standard ◽  
Sex Differentiation ◽  
Ambiguous Genitalia ◽  
Transperineal Ultrasound ◽  
Transabdominal Ultrasound ◽  
Resonance Imaging ◽  
Normal Children ◽  
Genital Ambiguity ◽  
Magnetic Resonance Imaging Mri

Abstract Objectives Accurate delineation of anatomy in children with ambiguous genitalia early in life is important. This commonly involves conventional fluoroscopic genitogram (traumatic to the child) and magnetic resonance imaging (MRI) examination (involves sedation). In this study, our objectives were twofold: (1) to describe the findings on transperineal ultrasound (TPUS) in normal children and (2) to describe the findings on TPUS in children with ambiguous genitalia and correlate them with conventional genitogram. Materials and Methods TPUS was prospectively performed in 10 children without genital ambiguity (5 girls and 5 boys). Subsequently, 15 consecutive children having disorders of sex differentiation (DSDs) with genital ambiguity underwent TPUS. The presence or absence of müllerian structures was documented. Of these patients, 14 also underwent conventional genitogram as a part of routine evaluation. The gold standard was established either by comparison with surgical findings (in patients who underwent surgery) or by comparison with a combination of findings on genitogram and transabdominal ultrasound in patients who did not undergo surgery. Results In all normal children, lower urogenital tracts could be clearly delineated on TPUS. Out of the 15 children with ambiguous genitalia, TPUS could establish the presence/absence of müllerian structures in 14. This was concordant with findings on conventional genitogram/surgery. In one patient, müllerian structure was missed on TPUS but demonstrated on genitogram. In two children, TPUS showed the müllerian structure, which was not seen on genitogram. When both the controls and the cases were combined, TPUS had an accuracy of 95% and specificity of 100% in the detection of müllerian structures. Conclusion TPUS is feasible and accurate in demonstration of lower urogenital tract anatomy in children with DSDs having ambiguous genitalia. It can be performed without sedation, and is suitable for use as a screening modality in children with ambiguous genitalia.

Quantificationofwallshearstressinlargebloodvesselsusingmagneticresonanceimaging

2019 ◽  
Author(s):  
  Нина Юрьевна Шокина ◽  
  Габриэль Тешнер ◽  
  Андреас Бауэр ◽  
  Камерон Тропеа ◽  
  Херберт Эггер ◽  
...  
Keyword(s):  
Cardiovascular Mri ◽  
Resonance Imaging ◽  
Noninvasive Measurements ◽  
Potential Biomarker ◽  
Flowing Blood ◽  
Fully Automatic ◽  
Nonlinear Regression Method ◽  
Magnetic Resonance Imaging Mri ◽  
Blood Flow Velocities

Напряжение сдвига на стенке количественно определяет силу трения течения крови о стенки сосудов. Магнитнорезонансная томография (МРТ) позволяет проводить неинвазивные измерения скорости течения крови, которая требуется для вычисления напряжения сдвига на стенке. В статье представлено введение в квантификацию напряжения сдвига на стенках больших кровеносных сосудов с помощью МРТ. Рассмотрены роль напряжения сдвига на стенке как потенциального биомаркера сердечнососудистых заболеваний, сердечнососудистая МРТ, методы квантификации напряжения на стенке с помощью МРТ, их точность и валидация. В качестве примера представлен универсальный метод нелинейной регрессии для квантификации напряжения сдвига на стенке с помощью МРТ для полностью развившихся турбулентных течений в трубах. Новый, полностью автоматический и быстрый локальный метод даёт точные оценки независимо от пространственного разрешения и может служить надёжным эталонным методом для валидации более обобщённых методов оценки напряжения сдвига на стенке перед их клиническим применением. Wall shear stress (WSS) quantifies the frictional force that flowing blood exerts on a vessel wall. Magnetic Resonance Imaging (MRI) enables noninvasive measurements of blood flow velocities that are needed for WSS computation. An introduction into MRIbased WSS quantification in large blood vessels is presented. The possible role of WSS as a potential biomarker in cardiovascular diseases, cardiovascular MRI, MRbased WSS quantification methods, and their accuracy and validation are considered. As an example, the generic nonlinear regression method for MRIderived WSS quantification in fully developed turbulent stationary pipe flows is presented. The new method is a fully automatic and fast local WSS estimator, which produces accurate estimates independent from the spatial resolution of the measurement and may serve as a reliable reference for validation of more generic WSS estimators prior to their clinical applications.

Magnetic Resonance Imaging in Gynecological Oncology

2009 ◽  
Vol 19 (2) ◽  
pp. 186-193 ◽  
Author(s):  
Vanessa N. Harry ◽  
Heather Deans ◽  
Emma Ramage ◽  
David E. Parkin ◽  
Fiona J. Gilbert
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
Early Assessment ◽  
Contrast Enhanced ◽  
Crucial Information ◽  
Magnetic Resonance Imaging Mri ◽  
Indispensable Tool ◽  
Improving Patient Care

Magnetic resonance imaging (MRI) has become an indispensable tool in the assessment of malignant disease. With increasingly sophisticated systems and technical advancements, MRI has continued to expand its role in providing crucial information regarding cancer diagnosis and management. In gynecological malignancies, this modality has assumed greater responsibility, particularly in the evaluation of cervical and endometrial cancers. In addition to conventional imaging, innovative techniques such as dynamic contrast-enhanced MRI and diffusion-weighted MRI show promise in offering early assessment of tumor response. This paper reviews the current role of MRI in gynecological cancers and highlights the potential of novel techniques in improving patient care.

scholarly journals Brain and Spinal Cord MRI in Multiple Sclerosis: an Update

2017 ◽  
Vol 01 (04) ◽  
pp. E294-E306 ◽  
Author(s):  
Mike Wattjes ◽  
Peter Raab
Keyword(s):  
Multiple Sclerosis ◽  
Quantitative Mri ◽  
Central Vein ◽  
Resonance Imaging ◽  
Ultra High Field ◽  
Important Differential Diagnosis ◽  
Magnetic Resonance Imaging Mri ◽  
Near Future ◽  
Brain And Spinal Cord

AbstractMagnetic resonance imaging (MRI) plays an important role in the diagnosis of multiple sclerosis and has been incorporated into the McDonald diagnostic criteria for MS. In particular, for the exclusion of important differential diagnosis and comorbidities, new MRI markers have been established such as the “central vein sign”. In addition to diagnostic purposes, the role of MRI in MS monitoring is becoming increasingly important, particularly for pharmacovigilance. This includes treatment efficacy monitoring, prediction of treatment response and safety monitoring. Quantitative MRI methods and ultra-high-field MRI offer the opportunity for the quantitative assessment of damage in normal-appearing brain tissue. However, the standardization of these techniques with the goal of implementation in clinical routine will be one of the major challenges in the near future.

scholarly journals Imaging of larynx: Diagnostic value of computed tomography and magnetic resonance imaging

2009 ◽  
Vol 56 (3) ◽  
pp. 39-44
Author(s):  
R.M. Maksimovic ◽  
B.A. Banko ◽  
J.P. Milovanovic
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Magnetic Resonance ◽  
Regional Lymph Node ◽  
Diagnostic Value ◽  
Resonance Imaging ◽  
Precise Diagnosis ◽  
Node Metastases ◽  
Magnetic Resonance Imaging Mri

Computed tomography (CT) and magnetic resonance imaging (MRI) are enabling more precise diagnosis and treatment planning in patients with diseases of the larynx. The aim of this article is to describe the role of these methods in assessment of the laringeal diseases and key local anatomic characteristics important for spread of the disease. CT and MRI have a valuable contribution to the staging of the tumors due to the possibility to show the relationship to the ventricular complex, involvement of the subumucosal spaces, defining craniocaudal and anterposterior extension, laringeal cartilage invasion, as well as regional lymph node metastases.

The interleukin-1 gene family in multiple sclerosis susceptibility and disease course

2003 ◽  
Vol 9 (6) ◽  
pp. 535-539 ◽  
Author(s):  
Tineke Hooper-van Veen ◽  
Hans M Schrijver ◽  
Antoon Zwiers ◽  
J Bart A Crusius ◽  
Dirk L Knol ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphisms ◽  
Interleukin 1 ◽  
Progression Rate ◽  
Disease Course ◽  
Resonance Imaging ◽  
Multiple Sclerosis Susceptibility ◽  
Specific Allele ◽  
Magnetic Resonance Imaging Mri

Multiple sclerosis (MS) is a chronic disease of presumed autoimmune origin with a considerable polygenic influence. We have previously observed that a specific allele combination in genes of the interleukin-1 (IL-1) family influenced the progression rate in MS. We have considerably expanded our patient population (492 MS patients and 228 controls). In the present study, we investigated the role of the IL- 1A - 889, IL-1B - 511, IL-1B+3953 and IL-1RN VNTR gene polymorphisms in MS. In addition, we performed preliminary analyses on longitudinal magnetic resonance imaging (MRI) data. We found no associations between the polymorphisms and susceptibility to MS or clinical features. In addition, we observed no significant effect of the polymorphisms on brain or lesion volumes, Based on our data and those from the literature, one can conclude that there is currently no evidence to support a role for the IL-1 genes in MS.

scholarly journals Colon Adenocarcinoma during Pregnancy: A Case Report and Review of the Literature

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Paolo Petruzzelli ◽  
Roberto Zizzo ◽  
Elisabetta Tavassoli ◽  
Miriam Sutera ◽  
Michela Chiadò Fiorio Tin ◽  
...  
Keyword(s):  
Clinical Course ◽  
Colon Adenocarcinoma ◽  
Male Infant ◽  
Exploratory Laparotomy ◽  
Review Of The Literature ◽  
Resonance Imaging ◽  
Local Hospital ◽  
Descending Colon ◽  
Magnetic Resonance Imaging Mri

Colorectal cancer (CRC) during pregnancy presents an estimated incidence of 1 : 13,000, and it is associated with diagnostic and therapeutic challenges. Here, we present the case of a 38-year-old woman, 25 weeks and 5 days pregnant, who was transferred to our Obstetrics and Gynecology Department from a local hospital with the diagnosis of intestinal obstruction. Magnetic Resonance Imaging (MRI) showed marked distension with hydroaerial levels of the enterocolic loops upstream of a concentric parietal thickening of the descending colon, stenosing, extended longitudinally for about 4 cm. An exploratory laparotomy was performed with resection of the colon splenic flexure and mechanical end-terminal anastomosis. Histological examination of the operating piece highlighted the presence of moderately differentiated (G2) colon adenocarcinoma (stage pT3N1b). The operation was followed by a single course of oxaliplatin and 5-FU plus leukovorin. The patient had a vaginal delivery at 37   weeks + 2 days of gestational age, following induction of labor and giving birth to a male infant whose weight was 2670 gr with apgar 9/9. We underline the pivotal role of attention to unspecific symptoms, early diagnosis, and active treatment in changing the clinical course of CRC.

Sign in / Sign up

Export Citation Format

Share Document