Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 47
Filtrar
1.
Radiologie (Heidelb) ; 64(1): 26-34, 2024 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-37947867

RESUMO

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. MATERIALS AND METHODS: Review of current literature and presentation of image examples. RESULTS: The most common lesions are ovarian cysts in infants, which usually do not require therapy. Because of the risk of torsion, surgery should be discussed for lesions with a size of 5 cm or more. Benign teratomas represent three-quarters of all solid tumors of the infantile ovary. Malignant masses are rare. The task of imaging is to assess the potential risk of malignancy, also using imaging scores. CONCLUSIONS: Imaging plays a crucial role for therapeutic considerations. Depending on the potential risk, ovarian-sparing surgery is preferred to preserve fertility, as long as the oncologic risk is reasonable.


Assuntos
Anormalidades do Sistema Digestório , Cistos Ovarianos , Neoplasias Ovarianas , Teratoma , Criança , Lactente , Feminino , Humanos , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Ovariectomia/métodos
2.
Rofo ; 195(10): 896-904, 2023 10.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-37348530

RESUMO

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. METHOD: Imaging findings of the most relevant causes of pediatric hearing disorders are presented. Specific attention is given to the method used in each case - CT or MRI. RESULTS AND CONCLUSIONS: While CT is the method of choice for conductive hearing loss, a combination of CT and MRI with high-resolution T2-3D sequences has been established as the best diagnostic method for sensorineural hearing loss. The most common causes of conductive hearing loss in childhood are chronic inflammation and cholesteatoma. Congenital malformations of the outer or middle ear are less frequent. In the case of sensorineural hearing loss, the cause is located in the inner ear and/or the cochlear nerve or the cerebrum. In these cases, congenital malformations are the most common cause. KEY POINTS: · CT and MRI are necessary to identify morphological causes of hearing disorders and to clarify the possibility of hearing-improving ear surgery or cochlear implantation.. · Contraindications for surgical procedures must be excluded.. · Anatomical variants that may be risk factors for surgery must be described.. CITATION FORMAT: · Sorge I, Hirsch F, Fuchs M et al. Imaging diagnostics for childhood hearing loss. Fortschr Röntgenstr 2023; 195: 896 - 904.


Assuntos
Orelha Interna , Perda Auditiva Neurossensorial , Perda Auditiva , Humanos , Criança , Perda Auditiva Condutiva/complicações , Tomografia Computadorizada por Raios X/métodos , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/congênito , Orelha Interna/diagnóstico por imagem , Orelha Interna/anormalidades , Imageamento por Ressonância Magnética/métodos
3.
Rofo ; 195(10): 913-923, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37224866

RESUMO

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. MATERIALS AND METHODS: Comparative study of the patellar, femoral, and tibial cartilage of 60 knee joints using T2 mapping on 3 T MRI. In each case, both knees of 15 adolescent competitive volleyball athletes were compared with 15 controls. RESULTS: In the group of competitive athletes, more focal cartilage changes were detected in the medial facet of the patellofemoral cartilage and in the medial femoral condyle of the knee joint cartilage (p = .01 and p <.05, respectively). Furthermore, the latter showed a diffused increase in maximal T2 mapping values (p <.04 right and p = .05 left). The distribution of changes seems to further depend on the player's position. CONCLUSION: In adolescent volleyball players in competitive sports, T2 mapping demonstrates early cartilage changes in both the patellofemoral and medial femoral cartilages. The distribution of lesions depends on the player's position. Since the cascade from T2 relaxation time increase to conspicuous cartilage damage is well established, early counter-regulation (e. g., adapted training profile, targeted physiotherapy, and appropriate muscle building training) has the potential to prevent later damage. KEY POINTS: · Volleyball as a competitive sport in adolescence leads to preclinical knee cartilage changes.. · Cartilage changes are both focal and diffuse.. · Jumping-intensive player positions seem to show more patellofemoral and running-intensive more condylar cartilage changes.. · Early detection of these changes could prevent progression to cartilage damage through adapted training.. CITATION FORMAT: · Roth C, Hirsch F, Sorge I et al. Preclinical Cartilage Changes of the Knee Joint in Adolescent Competitive Volleyball Players: A Prospective T2 Mapping Study. Fortschr Röntgenstr 2023; 195: 913 - 923.


Assuntos
Cartilagem Articular , Doenças Musculoesqueléticas , Voleibol , Humanos , Adolescente , Estudos Prospectivos , Cartilagem Articular/diagnóstico por imagem , Articulação do Joelho/diagnóstico por imagem , Patela , Imageamento por Ressonância Magnética
4.
Eur J Pediatr ; 182(8): 3405-3417, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37249681

RESUMO

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. Especially in pediatric brain imaging, rt-MRI has already proven its value. With suitable indications, rt-MRI can reduce anesthesia and sedation examinations in children below 6 years of age by 40% due to its very short examination time and its robustness to motion. There is a high level of acceptance among parents and referrers when diagnostic possibilities and limitations are communicated correctly. CONCLUSION: Completely new diagnostic possibilities arise in the imaging of the moving lung, the beating heart, joint movements, and speaking and swallowing, as demonstrated in this video-backed review. WHAT IS KNOWN: • MRI in moving children has been burdened with severe artifacts. • Gross motion usually has to be handled by sedation and periodic motion of the heart and lungs has to be compensated with time-consuming techniques until now. WHAT IS NEW: • Real-time MRI allows image acquisition with up to 50 frames per second similar to ultrasound frame rate. • Real-time MRI proofs to be very promising for imaging children, reducing examination time and sedation rate drastically.


Assuntos
Imageamento por Ressonância Magnética , Radiologia , Criança , Humanos , Imageamento por Ressonância Magnética/métodos , Neuroimagem , Movimento (Física) , Movimento
5.
Pediatr Radiol ; 53(1): 12-20, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35836015

RESUMO

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. However, to date, there are no reports on the application of this innovative technique to pediatric lung MRI. OBJECTIVE: This study aimed to identify the limits of resolution and image quality of real-time lung MRI in children and to assess the types and minimal size of lesions with these new sequences. MATERIALS AND METHODS: In this retrospective study, pathological lung findings in 87 children were classified into 6 subgroups, as detected on conventional MRI: metastases and tumors, consolidation, scars, hyperinflation, interstitial pathology and bronchiectasis. Subsequently, the findings were grouped according to size (4-6 mm, 7-9 mm and ≥ 10 mm) and evaluated for visual delineation of the findings (0 = not visible, 1 = hardly visible and 2 = well visualized). RESULTS: Real-time MRI allows for diagnostic, artifact-free thorax images to be obtained, regardless of patient movements. The delineation of findings strongly correlates with the size of the pathology. Metastases, consolidation and scars were visible at 100% when larger than 9 mm. In the 7-9 mm subgroup, the visibility was 83% for metastases, 88% for consolidation and 100% for scars in T2/T1 weighting. Though often visible, smaller pathological lesions of 4-6 mm in size did not regularly meet the expected diagnostic confidence: The visibility of metastases was 18%, consolidation was 64% and scars was 71%. Diffuse interstitial lung changes and hyperinflation, known as "MR-minus pathologies," were not accessible to real-time MRI. CONCLUSION: The method provides motion robust images of the lung and thorax. However, the lower sensitivity for small lung lesions is a major limitation for routine use of this technique. Currently, the method is adequate for diagnosing inflammatory lung diseases, atelectasis, effusions and lung scarring in children with irregular breathing patterns or bulk motion on sedation-free MRI. A medium-term goal is to improve the diagnostic accuracy of small nodules and interstitial lesions.


Assuntos
Cicatriz , Pneumopatias , Humanos , Criança , Estudos Retrospectivos , Cicatriz/patologia , Imageamento por Ressonância Magnética/métodos , Pulmão/patologia , Espectroscopia de Ressonância Magnética , Artefatos
6.
Clin Genet ; 103(2): 226-230, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36189577

RESUMO

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.Glu1099Lys occurs somatically in leukemia and has a gain-of-function (GoF) effect. We describe two individuals carrying p.Glu1099Lys as heterozygous de novo germline variant identified by exome sequencing (ES) of blood DNA and subsequently confirmed in two ectodermal tissues. Clinically, these individuals are characterized by intellectual disability, coarse/ square facial gestalt, abnormalities of the hands, and organomegaly. Public cell lines with NSD2 GoF variants had increased K36me2, DNA promoter methylation, and dysregulated RNA expression. NSD2 GoF caused by p.Glu1099Lys is associated with a novel phenotype different from WHS and Rauch-Steindl syndrome (RAUST).


Assuntos
Proteínas Repressoras , Síndrome de Wolf-Hirschhorn , Humanos , Proteínas Repressoras/genética , Mutação com Ganho de Função , Histonas/genética , Histonas/metabolismo , Síndrome de Wolf-Hirschhorn/genética , DNA
7.
Rofo ; 194(10): 1132-1139, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35915911

RESUMO

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. MATERIALS AND METHODS: This retrospective study included 70 children with sensorineural hearing loss (32 with CND and 38 control patients). The height, width, and cross-sectional area of the IAC and diameter of the CNCs were determined using temporal bone CT. Receiver operating characteristic (ROC) and Student's t-tests were performed for each parameter. RESULTS: The mean diameter of the CNCs was significantly smaller in children with CND than in the control group (1.2 mm versus 2.4 mm, p < .001). The optimal threshold for CNC for separation of the two groups was 1.9 mm, resulting in a sensitivity of 98.7 % and specificity of 89.2 %. The IAC dimensions could not distinguish between children with CND and controls. CONCLUSION: A CNC diameter of less than 1.9 mm is a reliable predictor of CND in children with sensorineural hearing loss. KEY POINTS: · A small cochlear nerve canal predicts cochlear nerve deficiency (CND). · The size of the internal auditory canal cannot predict CND. · Whenever MRI is impossible or ambigous, CT can rule out CND. CITATION FORMAT: · Sorge M, Sorge I, Pirlich M et al. Diameter of the Cochlear Nerve Canal predicts Cochlear Nerve Deficiency in Children with Sensorineural Hearing Loss. Fortschr Röntgenstr 2022; 194: 1132 - 1139.


Assuntos
Nervo Coclear , Perda Auditiva Neurossensorial , Criança , Nervo Coclear/diagnóstico por imagem , Nervo Coclear/patologia , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos
8.
Am J Hum Genet ; 109(8): 1421-1435, 2022 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-35830857

RESUMO

PPFIBP1 encodes for the liprin-ß1 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. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.


Assuntos
Epilepsia , Microcefalia , Malformações do Sistema Nervoso , Transtornos do Neurodesenvolvimento , Acetilcolinesterase/genética , Animais , Drosophila melanogaster/genética , Epilepsia/genética , Perda de Heterozigosidade , Microcefalia/genética , Transtornos do Neurodesenvolvimento/genética , Linhagem
9.
Neuropediatrics ; 53(6): 432-435, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35817355

RESUMO

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. We recommend that DADA2 and a genetic workup should be taken into account, when evaluating strokes in children even if no other than neurological symptoms are evident.


Assuntos
Adenosina Desaminase , Infartos do Tronco Encefálico , Criança , Feminino , Humanos , Pré-Escolar , Adenosina Desaminase/genética , Peptídeos e Proteínas de Sinalização Intercelular/genética , Mutação
10.
Medicina (Kaunas) ; 58(6)2022 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-35744012

RESUMO

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. Material and Methods: We analyzed medical records and imaging procedures of patients aged <18 years who sustained a bunk bed injury and were treated at our department between January 2014 and December 2021. Demographic data, including age groups, mechanisms, types and anatomical regions of fractures, were assessed. Results: A total of 162 patients (median age 5 years, range 0−15; 59.9% male) was included. Fractures were recorded in 80 (49.4%) and contusions and abrasions in 49 (30.2%) cases. BBR fractures were recorded in 44.8% of children below the age of 3, in 50.8% aged 3−5, in 58.5% aged 6−9 and in 28.6% ≥ 10 years. Forearm fractures were most common (n = 34, 42.5%), followed by fractures of the clavicle (n = 13, 16.3%), humerus (n = 10, 12.5%), foot (n = 8, 10.0%), hand (n = 5, 6.3%), lower leg (n = 5, 6.3%) and skull (n = 5, 6.3%). Surgery was required in 12 (15.0%) cases, including closed reduction (n = 7) and closed reduction with internal fixation (n = 5). Overall, 21 (26.3%) patients were hospitalized with a mean length of stay of 2 ± 1.6 days. Conclusions: Caregivers should be aware that bunk beds cause a significant amount of severe trauma in children and adolescents, especially in those younger than 10 years of age. Caregivers would benefit from receiving information about these risks and evidence-based strategies to prevent BBR fractures.


Assuntos
Leitos , Fraturas Ósseas , Adolescente , Criança , Pré-Escolar , Feminino , Fixação Interna de Fraturas , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
11.
Rofo ; 194(2): 192-198, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34644801

RESUMO

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. The aim of the study was to quantify the reduction in the number of anesthesia examinations in young children after the implementation of the new RT-cMRI protocol. MATERIALS AND METHODS: All cMRI studies of children up to 6 years in the first 12 months after the establishment of the RT-cMRI 2019/2020 were retrospectively compared to a matched group of the same period in 2017/2018. The frequency of examinations under anesthesia vs. non-sedation examinations was analyzed. In addition, the number of follow-up examinations and the effectiveness of RT-cMRI was determined. RESULTS: The launch of RT-cMRI led to a significant decrease in the proportion of cMRI under anesthesia from 92 % to 55 %. Only 2 % of the RT-cMRI failed and required conventional MRI under sedation in the follow-up. The speed and ease of use of RT-cMRI increased the number of follow-up examinations from 1.3 to 1.4 examinations per child. CONCLUSION: This innovative real-time MRI examination allows a drastic reduction in the number of studies under anesthesia for suitable cranial pathologies in children under 6 years. However, cautious selection of indications as well as adjustments to the workflow in the radiological department are required. KEY POINTS: · Real-time MRI sequences are almost unaffected by patient movement. · The application of real-time cranial MRI can spare children from sedation. · Low-threshold access results in more frequent follow-up examinations. CITATION FORMAT: · Sorge I, Hirsch FW, Voit D et al. Decreased Need for Anesthesia during Ultra-Fast Cranial MRI in Young Children: One-Year Summary. Fortschr Röntgenstr 2022; 194: 192 - 198.


Assuntos
Anestesia , Imageamento por Ressonância Magnética , Encéfalo/diagnóstico por imagem , Pré-Escolar , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Estudos Retrospectivos , Crânio
13.
Pediatr Pulmonol ; 56(12): 3899-3907, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34491627

RESUMO

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. The aim of the study was to compare the diagnostic value of a respiratory-self-gated three-dimensional UTE sequence versus a conventional respiratory-triggered T2-weighted turbo spin echo (T2-TSE) sequence in a pediatric collective. STUDY DESIGN: Seventy-one patients between 0 and 18 years of age, who were scheduled for a thoracic MRI based on diverse clinical indications, were examined on a 3T MRI system. The UTE and T2-TSE sequences were evaluated by two readers regarding quality features and visualization of eight common pathology patterns. RESULTS: The image quality of both sequences was equally high, with UTE depicting pleural and central bronchi more clearly. In pathologies, UTE was superior to T2-TSE for so-called "MR-negative pathologies", significant for air trapping, and in tendency for bullae and cysts. In all remaining pathologies, T2-TSE proved to be at least equivalent to UTE. CONCLUSIONS: At present, UTE cannot serve as a universal replacement for conventional T2-TSE for all pathologies. It yields, however, a substantial benefit in the context of hyperinflation, emphysema, cysts, or pathologies of the bronchial system.


Assuntos
Imageamento Tridimensional , Imageamento por Ressonância Magnética , Criança , Humanos , Pulmão/diagnóstico por imagem , Respiração
14.
Radiologe ; 61(7): 611-618, 2021 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-34160645

RESUMO

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, X­ray. METHODOLOGICAL INNOVATIONS: Whole-body imaging (MRI and PET-MRI or PET-CT) play a key role in diagnostics and for therapy selection in Hodgkin lymphoma. PERFORMANCE: In particular, hybrid imaging using 18F­FDG PET is proving to be a powerful method for staging and restaging. ACHIEVEMENTS: Standardization of imaging and inclusion in therapy studies (e.g. within the framework of the EuroNet-PHL-C2 study) improves diagnostics and simultaneously reduces therapy-related side effects. PRACTICAL RECOMMENDATIONS: In Hodgkin lymphoma, deviations from the prescribed diagnostic procedure should be avoided. In clinically very heterogeneous non-Hodgkin lymphoma (NHL), on the other hand, the diagnostic procedure should be adapted to the actual clinical condition of the child. The role of interim PET in NHL is currently still the subject of clinical discussion.


Assuntos
Linfoma , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Adolescente , Criança , Fluordesoxiglucose F18 , Humanos , Linfoma/diagnóstico por imagem , Linfoma/patologia , Estadiamento de Neoplasias , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Imagem Corporal Total
15.
Neuropediatrics ; 52(4): 274-283, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33791999

RESUMO

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. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.


Assuntos
Testes Genéticos , Humanos , Fenótipo
16.
Childs Nerv Syst ; 37(8): 2597-2604, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33834279

RESUMO

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. We underline the seriousness of baclofen overdose, underdosing or withdrawal.


Assuntos
Paralisia Cerebral , Relaxantes Musculares Centrais , Baclofeno/uso terapêutico , Paralisia Cerebral/tratamento farmacológico , Criança , Humanos , Bombas de Infusão Implantáveis , Injeções Espinhais , Relaxantes Musculares Centrais/uso terapêutico , Espasticidade Muscular/tratamento farmacológico
17.
Pediatr Radiol ; 51(5): 840-846, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33566125

RESUMO

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. These technical advances promise specific advantages for studies of infants and young children by eliminating the need for sedation or anesthesia. Our preliminary data demonstrate new diagnostic opportunities ranging from dynamic studies of speech and swallowing processes and body movements to a rapid volumetric assessment of brain cerebrospinal fluid spaces in only few seconds. Real-time MRI of the heart and blood flow can be performed without electrocardiogram gating and under free breathing. The present findings support the idea that real-time MRI will complement existing methods by providing long-awaited diagnostic options for patients in early childhood. Major advantages are the avoidance of sedation or anesthesia and the yet unexplored potential to gain insights into arbitrary body functions.


Assuntos
Imageamento por Ressonância Magnética , Radiologia , Encéfalo , Criança , Pré-Escolar , Coração , Humanos , Processamento de Imagem Assistida por Computador , Lactente
18.
Pediatr Emerg Care ; 37(9): e547-e550, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-30907847

RESUMO

OBJECTIVES: Smartphones have become an integral part of daily life, often grabbing full attention of its user. We hypothesized that smartphone-associated trauma in children and adolescents has increased in the last decade. The objective of this study was to analyze smartphone-related injuries in children at two German centers for pediatric emergency care. METHODS: Smartphone-related injuries were recorded between January 2008 and March 2018 at two centers of pediatric surgery in Germany. Data were assessed for patient demography, cause of accident, type of injury, treatment, and outcome. RESULTS: Ten children (8 girls, 2 boys; mean ± SD age, 10.6 ± 6.0 years; range, 10 weeks to 17 years) were included. Two patients were injured in 2008 to 2015, eight in 2016 to 2018, of which three required hospital admissions. Six accidents happened in public spaces, and four within domestic environments. Eight children (mean ± SD age, 13.3 ± 2.4 years; 7 girls) were injured while using their smartphone, therefore being distracted. Two children (mean ± SD age, 6.5 ± 6.4 months) were involuntarily hurt by the smartphone of their caregivers. The causes of accident and related injuries were highly variable and ranged from minor trauma (mild head injury [n = 3], abrasions [n = 2], bruises of fingers [n = 2]/hand [n = 1]/ankle [n = 2]) to major injuries requiring intensive care treatment (pelvic [n = 1] or vertebral body fractures [n = 1]). CONCLUSIONS: Smartphone-associated injuries mainly caused by distraction gain increasing importance in pediatric traumatology. The frequency is higher in females compared with their male counterparts. The prevention of these accidents should become part of educational programs for children and adolescents.


Assuntos
Traumatismos Craniocerebrais , Fraturas Ósseas , Acidentes , Adolescente , Criança , Pré-Escolar , Feminino , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Smartphone
19.
Am J Med Genet A ; 182(9): 2037-2048, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32710489

RESUMO

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. We have identified 15 individuals with de novo variants in codon 1740 of SETD2 whose features differ from those with LLS. Group 1 consists of 12 individuals with heterozygous variant c.5218C>T p.(Arg1740Trp) and Group 2 consists of 3 individuals with heterozygous variant c.5219G>A p.(Arg1740Gln). The phenotype of Group 1 includes microcephaly, profound intellectual disability, congenital anomalies affecting several organ systems, and similar facial features. Individuals in Group 2 had moderate to severe intellectual disability, low normal head circumference, and absence of additional major congenital anomalies. While LLS is likely due to loss of function of SETD2, the clinical features seen in individuals with variants affecting codon 1740 are more severe suggesting an alternative mechanism, such as gain of function, effects on epigenetic regulation, or posttranslational modification of the cytoskeleton. Our report is a prime example of different mutations in the same gene causing diverging phenotypes and the features observed in Group 1 suggest a new clinically recognizable syndrome uniquely associated with the heterozygous variant c.5218C>T p.(Arg1740Trp) in SETD2.


Assuntos
Predisposição Genética para Doença , Histona-Lisina N-Metiltransferase/genética , Deficiência Intelectual/genética , Transtornos do Neurodesenvolvimento/genética , Tubulina (Proteína)/genética , Criança , Pré-Escolar , Códon/genética , Epigênese Genética/genética , Feminino , Estudos de Associação Genética , Humanos , Lactente , Deficiência Intelectual/patologia , Mutação com Perda de Função/genética , Masculino , Mutação de Sentido Incorreto , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/patologia , Transtornos do Neurodesenvolvimento/fisiopatologia
20.
Neuropediatrics ; 51(4): 241-244, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32232811

RESUMO

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. The leptomeningeal collaterals present as diffuse signal enhancement at the brain surface in contrast-enhanced T1-weighted image and fluid-attenuated inversion recovery sequences "as if overgrown with ivy."We report on three patients with MMD in whom the "ivy-sign" was already present but misinterpreted in the initial MRI of the brain. The correct diagnosis was made only after repeated MRI.Using three case studies, we describe the difficulties in the interpretation of the "ivy-sign" as an MRI pattern. Knowledge of the "ivy-sign" can be helpful, especially in diseases predisposing to MMD. If this MRI pattern is present, MMD should be considered and MR angiography should be added.


Assuntos
Angiografia Cerebral , Imageamento por Ressonância Magnética , Doença de Moyamoya/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Angiografia por Ressonância Magnética , Masculino
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...