scholarly journals Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 716
Author(s):  
Magdalena Mroczek ◽  
Hacer Durmus ◽  
Ana Töpf ◽  
Yesim Parman ◽  
Volker Straub
Keyword(s):  
Homozygous Mutation ◽  
Resonance Imaging ◽  
Facial Weakness ◽  
Repetitive Nerve Stimulation ◽  
Turkish Origin ◽  
Mri Features ◽  
Muscle Magnetic Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Muscle Biopsies

We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction.

scholarly journals Neuroimaging in dementia

2021 ◽  
Author(s):  
Julia Furtner ◽  
Daniela Prayer
Keyword(s):  
Imaging Techniques ◽  
Resonance Imaging ◽  
Clinical Criteria ◽  
Mri Features ◽  
Reporting Systems ◽  
Diagnosis Of Dementia ◽  
Subdural Hemorrhages ◽  
Mri Protocol ◽  
Magnetic Resonance Imaging Mri

SummaryDespite the fact that the diagnosis of dementia is mainly based on clinical criteria, the role of neuroimaging is still expanding. Among other imaging techniques, magnetic resonance imaging (MRI) plays a core role in assisting with the differentiation between various dementia syndromes and excluding other underlying pathologies that cause dementia, such as brain tumors and subdural hemorrhages. This article gives an overview of the standard MRI protocol and of structural radiological reporting systems in patients who suffer from dementia. Moreover, it presents characteristic MRI features of the most common dementia subtypes.

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.

MRI features of different types of sinonasan rhabdomyosarcomas: a series of eleven cases

2021 ◽  
pp. 20210030
Author(s):  
Junjie Zeng ◽  
Lan Liu ◽  
Jiayong Li ◽  
Qiling Huang ◽  
Leiming Pi ◽  
...  
Keyword(s):  
Bone Destruction ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Bone Invasion ◽  
Mri Features ◽  
Different Types ◽  
Magnetic Resonance Imaging Mri ◽  
Haematogenous Metastasis ◽  
Ethmoid Sinuses ◽  
Pathological Subtypes

Objective: To retrospectively analyze magnetic resonance imaging (MRI) features of various pathological subtypes of sinonasal rhabdomyosarcoma (RMS) and explore correlations between imaging features and pathological subtypes. Methods: In total, 11 cases with embryonal, alveolar or pleomorphic sinonasal RMSs, confirmed by surgical pathology, were selected. Their characteristics and distinctive imaging features were analysed, and the correlation between pathology and imaging features was explored. Results: Bone destruction was observed in all 11 cases with RMS. Expansive growth was predominant in three alveolar and three embryonal RMS cases, and creeping growth was predominant in two alveolar, two embryonal and one pleomorphic RMS cases. Signs of residual mucosa were observed in all 11 cases, and 10 cases showed involvement of multiple sinus cavities and orbital cavities. All cases exhibited mild-to-intermediate enhancement. Conclusion: Sinonasal RMSs have the following characteristic MRI features: ethmoid sinuses and middle nasal conchae are the prevalent sites; lesions are mainly of mild enhancement; tumours exhibit signs of residual mucosa, mild-to-intermediate enhancement and frequent orbital involvement; bone invasion and bone destruction are frequently observed; and haematogenous metastasis is not as common as lymphatic metastasis. RMSs of various pathological subtypes were not significantly distinct by imaging.

MRI features in a malignant glomus jugulare tumour

1993 ◽  
Vol 107 (11) ◽  
pp. 1066-1069 ◽  
Author(s):  
Alexandra C. Athanassopoulou ◽  
Labros L. Vlahos ◽  
Athanassios D. Gouliamos ◽  
Eliana D. Kailidou ◽  
John G. Papailiou ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Pulmonary Metastases ◽  
Distant Metastases ◽  
Resonance Imaging ◽  
Malignant Tumours ◽  
Regional Lymph Nodes ◽  
Glomus Jugulare ◽  
Mri Features ◽  
Magnetic Resonance Imaging Mri ◽  
Glomus Jugulare Tumour

AbstractMagnetic resonance imaging (MRI) features in a case of malignant glomus jugulare tumour are reported. Chemodectomas are benign in 95 per cent of cases and malignant in five per cent. Only one case report of CT findings in this unusual CP angle tumour with pulmonary metastases has been cited in the literature.It is concluded that MRI can provide useful information about the nature of chemodectomas although it cannot dislinguish between benign and malignant tumours, except when regional lymph nodes are involved or when distant metastases exist.

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.

scholarly journals MRI Virtual Biopsy of T2 Hyperintense Breast Lesions

2021 ◽  
Vol 11 ◽  
pp. 18
Author(s):  
Swati Sharma ◽  
Chidi Nwachukwu ◽  
Carissa Wieseler ◽  
Sherif Elsherif ◽  
Haley Letter ◽  
...  
Keyword(s):  
Breast Lesions ◽  
Resonance Imaging ◽  
Post Contrast ◽  
Comprehensive Review ◽  
Hyperintense Signal ◽  
Mri Features ◽  
Malignant Breast ◽  
Weighted Magnetic Resonance Imaging ◽  
Pre Treatment ◽  
Magnetic Resonance Imaging Mri

A wide variety of benign and malignant breast processes may generate hyperintense signal at T2-weighted magnetic resonance imaging (MRI). MRI has been traditionally used in the pre-treatment planning of breast cancer, in assessing treatment response and detecting recurrence. In this comprehensive review, we describe and illustrate the MRI features of a few common and uncommon T2 hyperintense breast lesions, with an emphasis on MRI features that help to characterize lesions based on morphological features, specific appearances on T1-and T2-weighted imaging, and enhancement characteristics on the dynamic post-contrast phase that are either diagnostic or aid in narrowing the differential diagnosis.

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