Publications by authors named "Sorge I"

In newborns, white matter shows a high T2-weighted (T2w) signal in MRI with poor grey-white matter contrast. To increase this contrast, an extremely long echo time (TE) is used in the examination of children. It is not known up to what age this long TE should be used.

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Background: Abnormalities of the ovary are frequently seen on ultrasound examination, sometimes symptomatic, but are more commonly asymptomatic.

Purpose: Presentation of the most important entities of ovarian masses and their imaging features in infants and children. Discussion of criteria for differentiation between benign and potentially malignant masses.

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Background And Purpose: Despite its rarity in Western countries, kernicterus resulting from severe neonatal hyperbilirubinemia and its associated neurologic consequences still persists. Subtle MR imaging patterns may be overlooked, leading to diagnostic and prognostic uncertainties. The study systematically analyzes MR imaging pattern over time.

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Background: Since the introduction of hearing screening in Germany in 2009, pediatric hearing disorders are detected at an early stage. Early therapy is essential for language development. Imaging plays a central role in diagnosis and therapy planning.

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Unlabelled: Real-time MRI (rt-MRI) in children is a new imaging technique that combines the advantages of US - at frame rates of up to 50 images per second - with the quality and features of MRI. Although still subject of research, it has become a standard tool in the diagnostic portfolio of two pediatric radiology departments in Germany. Based on ultrashort acquisition times, any detrimental effects of macroscopic movements of the child and the physiological movements of the organs are negligible.

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Purpose: To investigate the potential effects of volleyball as a competitive sport in adolescence on the cartilage of knee joints using T2 mapping in MRI and identification of preclinical cartilage changes. Volleyball as an impact sport often leads to damage of the knee joint cartilage in adulthood. As T2 mapping is widely available and highly capable of detecting cartilage changes prior to conventional MRI sequences, such a detection may allow adolescent volleyball players to change their training regime before structural damage can occur to the cartilage and pose the risk of osteoarthritis.

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NSD2 dimethylates histone H3 at lysine 36 (H3K36me2) and is located in the Wolf-Hirschhorn syndrome (WHS) critical region. Recent descriptions have delineated loss-of-function (LoF) variants in NSD2 with a distinct disorder. The oncogenic missense variant p.

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Purpose: Detection of cochlear nerve deficiency (CND) is usually straightforward using magnetic resonance imaging (MRI). In patients in whom MRI cannot be performed or imaging provides equivocal findings, computed tomography (CT) of the temporal bone might offer indirect evidence of CND. Our study aimed to derive a cut-off value for the diameter of the cochlear nerve canal (CNC) and internal auditory canal (IAC) in temporal bone CT to predict CND.

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Background: Real-time magnetic resonance imaging (MRI) based on a fast low-angle shot technique 2.0 (FLASH 2.0) is highly effective against artifacts caused due to the bulk and pulmonary and cardiac motions of the patient.

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PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly.

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Deficiency of adenosine deaminase 2 (DADA2) is a rare Mendelian, autoinflammatory multiorgan disease. We report the case of a 3.8-year-old female patient who was admitted with an acute brainstem stroke and was diagnosed with DADA2 by early initiation of exome sequencing.

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Background and Objectives: Falls from heights are a common mechanism of trauma in children. However, data on bunk-bed-related (BBR) fractures are scarce. We aimed to assess types of fractures and age groups most at risk for BBR fractures.

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Purpose: Rapid volume coverage sequences based on real-time MRI allow for scanning of the entire brain within a few seconds. Movements of children become almost irrelevant due to the ultra-fast acquisition of 30 ms per slice. The adoption of these sequences in a real-time cranial MRI protocol (RT-cMRI) is expected to reduce the frequency of examinations requiring anesthesia in infants and toddlers.

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Objectives: Magnetic resonance imaging (MRI) of the lungs is challenging for several reasons, mainly due to the respiratory motion, low proton density, and rapid T2* decay. Recent MR sequences with ultrashort TE (UTE) coupled with respiratory compensation promise to overcome these obstacles. So far, there are very few studies on the relevance of these sequences in children.

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Aim: In 2015, the revised International Pediatric Non-Hodgkin Lymphoma Staging System was published. It mentions [F]-FDG-PET/MRI as the latest method to perform whole-body imaging. However, supporting data are pending.

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Clinical/methodological Issue: Lymphoma is the third most common neoplasm in children. Detection, accurate staging, and restaging are important for all radiologists involved in the diagnosis of children.

Standard Radiological Methods: Magnetic resonance imaging (MRI), positron emission tomography/computed tomography (PET/CT), CT, ultrasound, X‑ray.

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Introduction: Although intrathecal baclofen (ITB) therapy is an effective treatment for spasticity, it has several disadvantages and a risk of complications.

Methods: We present six pediatric patients who suffered from unusual mechanical failures of intrathecal baclofen pump systems.

Results: With these case-vignettes, we provide a systematic approach on how to interpret the symptoms of ITB complications and an advice which further diagnostic and therapeutic steps to follow.

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New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results.

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The recent development of highly undersampled radial gradient echo sequences in combination with nonlinear inverse image reconstruction now allows for MRI examinations in real time. Image acquisition times as short as 20 ms yield MRI videos with rates of up to 50 frames per second with spin density, T1- and T2-type contrast. The addition of an initial 180° inversion pulse achieves accurate T1 mapping within only 4 s.

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The SET domain containing 2, histone lysine methyltransferase encoded by SETD2 is a dual-function methyltransferase for histones and microtubules and plays an important role for transcriptional regulation, genomic stability, and cytoskeletal functions. Specifically, SETD2 is associated with trimethylation of histone H3 at lysine 36 (H3K36me3) and methylation of α-tubulin at lysine 40. Heterozygous loss of function and missense variants have previously been described with Luscan-Lumish syndrome (LLS), which is characterized by overgrowth, neurodevelopmental features, and absence of overt congenital anomalies.

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Moyamoya disease (MMD) is characterized by bilateral, chronic progressive stenosis at the terminal portions of the internal carotid arteries and their proximal branches. The "smoke-like" appearance of the arterial collaterals in angiography gives the disease its name. The "ivy-sign" is the less-known magnetic resonance imaging (MRI) pattern of this disease.

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We report on a male preterm newborn with a large abdominal tumor found on prenatal ultrasound 2 weeks prior to delivery at 36 + 0 weeks of gestation. A postnatal abdominal plain film showed a mass with well-defined rim calcifications ("eggshell"), suggestive of a meconium pseudocyst. On the 4th day of life, the boy underwent exploratory laparotomy with resection of the cyst and end-to-back jejunojejunostomy.

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Lung MRI makes it possible to replace up to 90% of CT examinations with radiation-free magnetic resonance diagnostics of the lungs without suffering any diagnostic loss. The individual radiation exposure can thus be relevantly reduced. This applies in particular to children who repeatedly require sectional imaging of the lung, e.

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Background: Cystic abdominal masses are a common main or incidental finding in daily radiological practice; however, differentiation is not always trivial.

Objectives: In children, cystic abdominal masses represent a special feature compared to adults, since the spectrum of congenital lesions must be taken into consideration. The article gives a structured overview of the most common entities.

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