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CLINICAL/METHODOLOGICAL ISSUE: Brain tumors are the most common solid tumors in childhood and the most frequent cancer after leukemia. The incidence is continuously increasing. The WHO classification of brain tumors, valid since 2016, is now based on the combination of histological and molecular genetic diagnostics. STANDARD RADIOLOGICAL METHODS: Diagnostics are mainly performed with magnetic resonance imaging (MRI); only in emergencies with computed tomography (CT). METHODOLOGICAL INNOVATIONS: Diffusion and susceptibility weighted and dynamic contrast-enhanced imaging and spectroscopy are used. PERFORMANCE: Improved diagnosis regarding dignity, size determination, adjacency assessment, and morphological description of tumor composition. ACHIEVEMENTS: Modern MRI with functional techniques is now the gold standard for differential diagnosis and staging of central nervous system (CNS) tumors in pediatrics.
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Neoplasias Encefálicas , Imagen por Resonancia Magnética , Adolescente , Neoplasias Encefálicas/diagnóstico por imagen , Sistema Nervioso Central , Niño , Diagnóstico Diferencial , Humanos , Tomografía Computarizada por Rayos XRESUMEN
Shaken baby syndrome is a common variant of the abusive head trauma in infants and toddlers and is still subject of intensive research. In recent years, a number of radiological studies on the diagnostic and forensic relevance of injured bridging veins were conducted using different imaging modalities. The present article will give an overview on the current state of research in this field and will discuss the forensic implications. The meta-analysis of the seven currently existing studies revealed that injuries of the bridging veins and bridging vein thromboses, respectively, frequently appear as rounded, enlarged, and/or tubular structures. The "tadpole sign" may serve as a valuable tool for the identification of these formations. Especially, T2*/SWI (susceptibility-weighted imaging) sequences allow for good detectability of these lesions and should always be generated when abusive head trauma is suspected. In conclusion, it can be recommended that the presence of radiologically detectable bridging vein injuries should give reason to search for other manifestations of physical child abuse.
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Maltrato a los Niños , Traumatismos Craneocerebrales , Síndrome del Bebé Sacudido , Animales , Niño , Preescolar , Traumatismos Craneocerebrales/diagnóstico por imagen , Humanos , Lactante , Radiografía , Síndrome del Bebé Sacudido/diagnóstico por imagenRESUMEN
CLINICAL/METHODICAL ISSUE: Acute, non-traumatic abdominal pain is one of the main reasons for medical consultation in pediatric patients. Knowledge of different diseases and their age dependence is essential for correct diagnosis and treatment. STANDARD RADIOLOGICAL METHODS: Ultrasonography is the imaging method of choice. Xray is only used in case of emergency, e.â¯g., suspected perforation. METHODICAL INNOVATIONS: Contrast-enhanced ultrasonography (CEUS) and elastography complement ultrasonography. PERFORMANCE: Magnetic resonance imaging is of increasing relevance for differential diagnosis of unclear sonographic results. PRACTICAL RECOMMENDATIONS: The primary imaging modality in pediatric patients is ultrasonography. Cross-sectional imaging should only be used in cases of unclear sonographic findings.
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Abdomen Agudo , Apendicitis , Radiografía/métodos , Dolor Abdominal , Niño , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética , UltrasonografíaRESUMEN
Abdominal and pelvic tumors in children and adolescents can be manifested intra-abdominally and also often in the retroperitoneum. The most important pediatric primary retroperitoneal space-occupying lesions are nephroblastoma (Wilms' tumor) and neuroblastoma, whereby imaging plays a decisive role in the diagnostics and differentiation of the two entities. Benign tumors of the mesentery and gastrointestinal tract occur more frequently in children than malignant lesions. The benign entities include lipoma, polyps and vascular tumors, such as lymphatic malformations. Of the malignant sarcomas, abdominal rhabdomyosarcomas (RMS) occur relatively often in childhood and adolescence. The most frequent pediatric abdominal lymphoma is Burkitt's lymphoma, an aggressive subtype of non-Hodgkin's lymphoma. Relevant tumor entities in childhood are also germ cell tumors, which originate from the genitals (gonadal) or can be extragonadally manifested. The benignancy or malignancy of germ cell tumors ranges from benign teratomas to highly malignant entities, such as yolk sac tumors. The germ cell tumors, just as all pediatric abdominal mass lesions, show a broad spectrum of tumor aggressiveness, malignancy and therefore also prognosis and mortality for the affected children and adolescents.
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Neoplasias Abdominales , Linfoma no Hodgkin , Neoplasias de Células Germinales y Embrionarias , Neuroblastoma , Neoplasias Retroperitoneales , Adolescente , Niño , HumanosRESUMEN
In comparison to adult patients, other specific entities of abdominal tumors occur in childhood and adolescence. These include malignant tumors originating from embryonic tissue, such as hepatoblastoma. Some of the abdominal tumors are already diagnosed prenatally or in neonates. Sonography functions as the primary radiological basic diagnostics of pediatric abdominal space-occupying lesions, if necessary supplemented by administration of ultrasound contrast medium or the implementation of novel techniques (e.g. innovative Doppler and elastography procedures). Magnetic resonance imaging (MRI) is used for a comprehensive and detailed depiction of the tumors including the question of resectability and vascular supply. Various weighting and different MRI sequences are used in order to be able to assess the signal behavior of the tumor and therefore the possible presence of calcification, necrosis or hemorrhage, the behavior of dynamic contrast enhancement, and the presence and extent of diffusion disorders. This information is decisive in order to be able to assess the entity and malignancy of the abdominal space-occupying lesion. Rare but relevant tumors with respect to the entity occur in childhood and adolescence in the abdominal organs liver, spleen and pancreas.
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Neoplasias Abdominales , Neoplasias Hepáticas , Neoplasias Pancreáticas , Neoplasias Abdominales/diagnóstico por imagen , Adolescente , Niño , Humanos , Imagen por Resonancia Magnética , BazoRESUMEN
AIM: To evaluate different magnetic resonance imaging (MRI) sequences for diagnosis of pulmonary manifestations of cystic fibrosis (CF) in comparison to chest computed tomography (CT), including an extended outcome analysis. MATERIALS AND METHODS: Twenty-eight patients with CF (15 male, 13 female, mean age 30.5±9.4 years) underwent CT and MRI of the lung. MRI (1.5 T) included different T2- and T1-weighted sequences: breath-hold HASTE (half Fourier acquisition single shot turbo spin echo) and VIBE (volumetric interpolated breath-hold examination, before and after contrast medium administration) sequences and respiratory-triggered PROPELLER (periodically rotated overlapping parallel lines with enhanced reconstruction) sequences with and without fat signal suppression, and perfusion imaging. CT and MRI images were evaluated by the modified Helbich and the Eichinger scoring systems. The clinical follow-up analysis assessed pulmonary exacerbations within 24 months. RESULTS: The highest concordance to CT was achieved for the PROPELLER sequences without fat signal suppression (concordance correlation coefficient CCC of the overall modified Helbich score 0.93 and of the overall Eichinger score 0.93). The other sequences had the following concordance: PROPELLER with fat signal suppression (CCCs 0.91 and 0.92), HASTE (CCCs 0.87 and 0.89), VIBE (CCCs 0.84 and 0.85) sequences. In the outcome analysis, the combined MRI analysis of all five sequences and a specific MRI protocol (PROPELLER without fast signal suppression, VIBE sequences, perfusion imaging) reached similar correlations to the number of pulmonary exacerbations as the CT examinations. CONCLUSION: An optimum lung MRI protocol in patients with CF consists of PROPELLER sequences without fat signal suppression, VIBE sequences, and lung perfusion analysis to enable high diagnostic efficacy and outcome prediction.
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Fibrosis Quística/diagnóstico por imagen , Aumento de la Imagen/métodos , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodos , Adulto , Medios de Contraste , Femenino , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
The aim of this cohort study was to assess the risk of developing cancer, specifically leukaemia, tumours of the central nervous system and lymphoma, before the age of 15 years in children previously exposed to computed tomography (CT) in Germany. Data for children with at least one CT between 1980 and 2010 were abstracted from 20 hospitals. Cancer cases occurring between 1980 and 2010 were identified by stochastic linkage with the German Childhood Cancer Registry (GCCR). For all cases and a sample of non-cases, radiology reports were reviewed to assess the underlying medical conditions at time of the CT. Cases were only included if diagnosis occurred at least 2 years after the first CT and no signs of cancer were recorded in the radiology reports. Standardised incidence ratios (SIR) using incidence rates from the general population were estimated. The cohort included information on 71,073 CT examinations in 44,584 children contributing 161,407 person-years at risk with 46 cases initially identified through linkage with the GCCR. Seven cases had to be excluded due to signs possibly suggestive of cancer at the time of first CT. Overall, more cancer cases were observed (O) than expected (E), but this was mainly driven by unexpected and possibly biased results for lymphomas. For leukaemia, the SIR (SIR = O/E) was 1.72 (95 % CI 0.89-3.01, O = 12), and for CNS tumours, the SIR was 1.35 (95 % CI 0.54-2.78, O = 7). Despite careful examination of the medical information, confounding by indication or reverse causation cannot be ruled out completely and may explain parts of the excess. Furthermore, the CT exposure may have been underestimated as only data from the participating clinics were available. This should be taken into account when interpreting risk estimates.
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Neoplasias Inducidas por Radiación/epidemiología , Tomografía Computarizada por Rayos X/efectos adversos , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Alemania/epidemiología , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Radiación Ionizante , RiesgoRESUMEN
Musculoskeletal pain (MSP) is a common childhood complaint associated with multiple differential diagnoses, including cancer. Considering the expanding spectrum of diagnostics, evaluat-ing a young patient with MSP is a challenge today, particularly for non-specialists in a primary care setting. Since childhood cancer is rare and most cardinal symptoms mimic rather non-serious diseases, misdiagnosis is not uncommon, but of significant prognostic relevance. To build the appropriate bridge between primary and secon-dary care for a child presenting with MSP, thereby preventing treatment delay and longterm sequelae, initial evaluation should follow a comprehensive, multidisciplinary, systematic and stepwise approach, which unites the patient's individual anamnestic, psychosocial, and clinical charac-teristics. After a systematic review of the literature, we generated multidisciplinarily quality-assured recommendations for efficient, rational and cost-effective primary care assessment of pediatric MSP. The algorithm promotes the identification and structured interpretation of the patient's individual clinical clues. It should serve the primary care physician to recognize when further intervention, rather than reassurance and follow-up, is needed using the minimum amount of testing to make an appropriate, prompt diagnosis in the clinical situation "child presenting with MSP". A German version of this algorithm has been published in the Guideline-Portal of The Association of the Scientific Medical Societies ("Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften", AWMF) in November 2013.
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Algoritmos , Dolor Musculoesquelético/etiología , Adolescente , Niño , Conducta Cooperativa , Diagnóstico Diferencial , Diagnóstico por Imagen , Alemania , Adhesión a Directriz , Humanos , Comunicación Interdisciplinaria , Anamnesis , Atención Primaria de SaludRESUMEN
The use of patient contact shielding provides an opportunity to reduce patient radiation exposure. Recently, the use has been the subject of controversy. The Radiation Protection Committee has published a recommendation on the use of patient radiation shields by considering the recent findings on dose savings but also the risks of incorrect use. In this article, a specification for the more frequently used types of Xray examination is given, which describes whether and which radiation contact shielding should be used. This is accompanied by a rationale for the use or non-use of patient radiation protection agents. Problems and possible errors are explained, as well as how to deal with special situations such as pregnant women and children.
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Exposición a la Radiación , Protección Radiológica , Niño , Humanos , Femenino , Embarazo , Radiología Intervencionista , Dosis de Radiación , Radiografía , Exposición a la Radiación/efectos adversos , Exposición a la Radiación/prevención & controlRESUMEN
After allogeneic hematopoietic stem cell transplantation (HSCT), viral infections/reactivations are a frequent complication, sometimes with fatal outcome. Thus, early diagnosis is recommended by screening of whole blood or plasma preparations using highly sensitive molecular techniques that test for the most common viral pathogens, such as Epstein-Barr virus, cytomegalovirus, and adenoviruses (ADVs). Despite this approach, not every reactivation/infection can be adequately detected or excluded, even with highly sensitive polymerase chain reaction. Particularly after toxic treatment, uncommon infections or infections resistant to first-line treatment can occur, even in unusual locations. Herein, we present the case of a child with Philadelphia chromosome-positive acute lymphoblastic leukemia after allogeneic HSCT who suffered from 5 different viral reactivations/infections, including acyclovir-resistant herpes simplex virus type 1 esophagitis, human herpesvirus 6 encephalitis, rotavirus gastroenteritis, respiratory syncytial virus pneumonia, and ADV esophagitis, despite routinely performed blood examinations for viral pathogens remaining unrevealing at all times.
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Trasplante de Células Madre Hematopoyéticas/efectos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Virosis/diagnóstico , Virosis/virología , Adenovirus Humanos/aislamiento & purificación , Adolescente , Femenino , Herpesvirus Humano 1/aislamiento & purificación , Herpesvirus Humano 6/aislamiento & purificación , Humanos , Virus Sincitiales Respiratorios/aislamiento & purificación , Rotavirus/aislamiento & purificación , Trasplante Homólogo/efectos adversos , Activación Viral , Virosis/patologíaRESUMEN
So-called bimodal odorants are able to stimulate the intranasal trigeminal system at relatively low concentrations. Using them as stimuli, the current study focused on the interaction between the olfactory and trigeminal systems at a cerebral level. In the experiment, menthol was used at two concentrations, low and high, and these were delivered to two groups of subjects, a healthy control group and an anosmic group who were unable to perceive smells. A computer-controlled olfactometer based on principles of air-dilution was used to deliver the stimuli, while the brain functions were assessed by a functional magnetic resonance imaging (fMRI) technique. SPM5 was used for data analysis. The results showed that normosmic subjects exhibited activation in the anterior cingulate cortex (ACC) and posterior cingulate cortex (PCC), prefrontal cortex (PFC), and cerebellum. Whilst anosmic subjects activated the same area inside the anterior cingulate; moreover a cluster of activation was found in the left parahippocampal gyrus. In controls, an effect of stimulus intensity was localized between the anterior cingulated, the medial frontal gyrus and the cerebellum; such areas could not be found in anosmic subjects. These results suggest that the olfactory system modifies trigeminally mediated information causing an evident effect in the differentiation between stimulus intensities.
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Odorantes , Olfato/fisiología , Nervio Trigémino/fisiología , Adulto , Cerebelo/fisiología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Mentol , Persona de Mediana Edad , Trastornos del Olfato , Corteza Prefrontal/fisiologíaRESUMEN
Alterations in the central nervous system in patients with a loss of sense of smell are well documented for the olfactory bulb (OB). Here we present a voxel-based morphometry (VBM) study on cerebral alterations in the gray matter of patients with anosmia above the OB. 3-Tesla MRI datasets were obtained from 17 patients with anosmia as well as from 17 normosmic controls. Data processing and evaluation was performed using the SPM5 software package (Wellcome Department of Imaging Neuroscience Group, London, UK) and the implemented VBM5 toolbox. Patients with anosmia showed a significant volume decrease in the gray matter in the primary olfactory cortex as well as in secondary olfactory areas (insular cortex, orbitofrontal cortex, cingulate cortex and hippocampus). Furthermore, volume decreases in areas like the nucleus accumbens with adjacent subcallosal gyrus and the dorsolateral prefrontal cortex were found. Longer disease duration was associated with more profound alterations in the gray matter. VBM is appropriate to document brain alterations in patients with olfactory disorders.
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Algoritmos , Encéfalo/patología , Imagenología Tridimensional/métodos , Imagen por Resonancia Magnética/métodos , Neuronas/patología , Trastornos del Olfato/patología , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Sensibilidad y EspecificidadRESUMEN
BACKGROUND AND PURPOSE: A useful tool for the investigation of the human olfactory system is functional magnetic resonance tomography (fMRI). Since the length of the fMRI examination is a limiting factor for its usefulness in clinical routine in this study a fast, reliable paradigm should be found in order to reduce the overall examination time and the olfactory habituation. METHODS: A MRI-compatible constant flow olfactometer was developed. 9 healthy normosmic subjects were stimulated 16 times with the odorant phenyl-ethyl-alcohol (PEA) using an event-related design. The statistical evaluation of the data was performed by the MATLAB based SPM5 software package. RESULTS: The group analysis showed cerebral activations within the insula, the adjacent operculum and orbitofrontal cortex bilaterally. Furthermore, bilateral activations were measured in the cingulum, piriform cortex and the cerebellum. All mentioned areas could be already identified after 8 repetitions of odorant condition. Bilateral insular activations and activations in the left piriform cortex were even shown after 4 repetitions. In the single subject analysis, all 9 subjects exhibited insular activity and in 3 subjects showed activation of the piriform cortex after 4 repetitions. CONCLUSION: In olfactory fMRI, stimulus repetition more than 8 did not improve the quality and reliability of the results. Therefore, 4-8 stimuli are expected to be sufficient.
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Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Vías Olfatorias/fisiología , Olfato/fisiología , Adulto , Mapeo Encefálico , Cerebelo/fisiología , Corteza Cerebral/fisiología , Dominancia Cerebral/fisiología , Femenino , Lóbulo Frontal/fisiología , Giro del Cíngulo/fisiología , Habituación Psicofisiológica/fisiología , Humanos , Masculino , Tiempo de Reacción/fisiología , Valores de Referencia , Programas Informáticos , Adulto JovenRESUMEN
BACKGROUND: The new radial volumetric encoding RAVE-T2/T1 hybrid sequence is a modern three-dimensional sequence with multiparametric approach, which includes T2- and T1-weighted contrasts obtained in identical slice position during one measurement. However, the RAVE-T2/T1 hybrid sequence is not yet being used in clinical routine. PURPOSE: The aim of this study was to evaluate the RAVE-T2/T1 hybrid sequence in a pediatric population with a clinical indication for an abdominal MRI examination to demonstrate that the hybrid imaging may be less challenging to perform on children. MATERIALS AND METHODS: Our retrospective observational study included pediatric patients of all age groups and required for an abdominal MRI examination. Non-contrast standard axial T1 DIXON and non-contrast RAVE-T2/T1 hybrid sequence were obtained at 3 T. MRI studies were analyzed independently by two pediatric radiologists using a 5-point Likert-type scale in five different categories. T1- and T2-weighted sequences were each compared with the RAVE-T2/T1-sequence using a Wilcoxon signed-rank test. RESULTS: The analysis included 15 children (mean age, 11 years and 4 months, 7 girls and 8 boys). The Cohens Kappa of interrater agreement measured 0.62. The T2 weighted part of the RAVE-T2/T1 sequence was significantly better than the standard T2 HASTE sequence in four of five image quality categories: overall image quality (2.2 ± 0.7 vs 1.8 ± 0,7, p = 0.03), respiratory motion artefacts (3.8 ± 0.4 vs 2.0 ± 0.7, p <= 0.01), portal vein clarity (3.3 ± 0.8 vs 2.2 ± 0.7, p <= 0.01), hepatic margin sharpness (2.4 ± 1,0 vs 1.8 ± 0.7, p <= 0.01). The T1 weighted part of the RAVE-T2/T1 sequence was significantly better than the standard T1 DIXON weighted sequence in three of five image quality categories: respiratory motion artefacts (4.0 ± 0.2 vs 3.6 ± 0.8, p = 0.01), portal vein clarity (2.7 ± 0.9 vs 2.1 ± 0.7, p <= 0.01), hepatic margin sharpness (3.2 ± 0.7 vs 2.6 ± 0.9, p <= 0.01). CONCLUSIONS: The RAVE-T2/T1 hybrid sequence is feasible and equal compared to standard T1- and T2-weighted sequences in the assessment of abdominal organs in a pediatric population. Due to non-inferiority to the current standard sequences for abdominal imaging, the RAVE-T2/T1 hybrid sequence is a good alternative for children who cannot be examined in breath-hold technique.
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Artefactos , Imagen por Resonancia Magnética , Abdomen/diagnóstico por imagen , Adolescente , Niño , Estudios de Factibilidad , Femenino , Humanos , Masculino , RespiraciónRESUMEN
This evidence- and consensus-based practical guideline for the diagnosis and treatment of Guillain-Barré Syndrome (GBS) in childhood and adolescence has been developed by a group of delegates from relevant specialist societies and organisations; it is the result of an initiative by the German-Speaking Society of Neuropediatrics (GNP), and is supported by the Association of Scientific Medical Societies (AWMF, Arbeitsgemeinschaft der Wissenschaftlichen Medizinischen Fachgesellschaften). A systematic analysis of the literature revealed that only a few adequately-controlled studies exist for this particular age group, while none carries a low risk of bias. For this reason, the diagnostic and therapeutic recommendations largely rely on findings in adult patients with GBS, for which there are a higher number of suitable studies available. Consensus was established using a written, multi-step Delphi process. A high level of consensus could be reached for the crucial steps in diagnosis and treatment. We recommend basing the diagnostic approach on the clinical criteria of GBS and deriving support from CSF and electrophysiological findings. Repetition of invasive procedures that yield ambiguous results is only recommended if the diagnosis cannot be ascertained from the other criteria. For severe or persistently-progressive GBS treatment with intravenous immunoglobulin (IVIG) is recommended, whereas in cases of IVIG intolerance or inefficacy we recommended treatment with plasmapheresis. Corticosteroids are ineffective for GBS but can be considered when acute onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is suspected due to a prolonged disease course. The full German version of the Guideline is available on the AWMF website (https://www.awmf.org/leitlinien/detail/ll/022-008.html).
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Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/terapia , Adolescente , Niño , Técnica Delphi , Progresión de la Enfermedad , Femenino , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Intercambio PlasmáticoRESUMEN
Aicardi syndrome ( OMIM 304050) is defined by the clinical triad of early-onset infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. Almost all patients are females showing severe cognitive and physical disabilities, and early onset seizures. Astrocytic inclusions containing filamin have been found, but the molecular defect in Aicardi syndrome is not yet known. We report a male patient with Aicardi syndrome characterised by agenesis of the corpus callosum, infantile spasms, chorioretinal lacunae, severe psychomotor retardation, periventricular heterotopias, and patent ductus arteriosus. As the latter two symptoms are suggestive of a mutation in the FLNA gene encoding filamin A, this gene was sequenced, but the sequence did not reveal a disease-causing mutation.
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Agenesia del Cuerpo Calloso , Coroides/anomalías , Espasmos Infantiles/patología , Espasmos Infantiles/fisiopatología , Proteínas Contráctiles/genética , Electroencefalografía/métodos , Filaminas , Humanos , Lactante , Masculino , Proteínas de Microfilamentos/genética , Mutación , Espasmos Infantiles/genética , Microtomografía por Rayos X/métodosRESUMEN
INTRODUCTION: The term variations of sex development subsumes a large number of congenital conditions including chromosomal mosaics and variations of chromosomal, gonadal, and phenotypic sex. A situation of this nature may cause severe distress to both, parents and affected persons. One of the reasons for this is the binary form of gender classification in the society. In the past, because of a fear of possible stigmatization and an inability to cope with complex situations, it has been medical policy and practice for newborns to undergo early, mostly 'feminizing' elective surgery with the aim of achieving an outer genital appearance that is unambiguously male or female. Protests by advocacy groups for the most part as well as the results of outcome studies have shown that the development of affected persons may be very different to what has been expected and often does not result in the intended clear female or male gender identity as had been intended. It, therefore, seemed a matter of urgency to implement this new awareness as well as the ethical and personal human rights perspectives in the recommendations for the medical and psychosocial management of diverse sex development (DSD) in the future. STUDY DESIGN: In 2012, an interdisciplinary group of German academics engaged in the field of DSD decided to work on a consensus paper for this topic. It involved the participation of all faculties and non-scientific groups dealing with DSD, in particular advocacy and service-user groups. In a structured consensus, process recommendations were developed based on scientific literature as well as personal experiences of clinicians and affected individuals. RESULTS: Finally, 37 recommendations were agreed on. The strength of consensus is reflected in the degree of agreement as expressed in percentages. CONCLUSION: The introduction of the consensus paper reflects on the emerging paradigm shift and the necessity for a more open view of gender within society. The paper is intended to aid the performance of appropriate diagnostics in DSD-affected newborns and especially to help parents and affected persons cope with the biological and social consequences of DSD. With regard to medical or surgical therapy, it gives information about the most recent treatment trends.