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OBJECTIVES: We aimed to discover CpG sites with differential DNA methylation in peripheral blood leukocytes associated with body mass index (BMI) in pregnancy and gestational weight gain (GWG) in women of European and South Asian ancestry. Furthermore, we aimed to investigate how the identified sites were associated with methylation quantitative trait loci, gene ontology, and cardiometabolic parameters. METHODS: In the Epigenetics in pregnancy (EPIPREG) sample we quantified maternal DNA methylation in peripheral blood leukocytes in gestational week 28 with Illumina's MethylationEPIC BeadChip. In women with European (n = 303) and South Asian (n = 164) ancestry, we performed an epigenome-wide association study of BMI in gestational week 28 and GWG between gestational weeks 15 and 28 using a meta-analysis approach. Replication was performed in the Norwegian Mother, Father, and Child Cohort Study, the Study of Assisted Reproductive Technologies (MoBa-START) (n = 877, mainly European/Norwegian). RESULTS: We identified one CpG site significantly associated with GWG (p 5.8 × 10-8) and five CpG sites associated with BMI at gestational week 28 (p from 4.0 × 10-8 to 2.1 × 10-10). Of these, we were able to replicate three in MoBa-START; cg02786370, cg19758958 and cg10472537. Two sites are located in genes previously associated with blood pressure and BMI. DNA methylation at the three replicated CpG sites were associated with levels of blood pressure, lipids and glucose in EPIPREG (p from 1.2 × 10-8 to 0.04). CONCLUSIONS: We identified five CpG sites associated with BMI at gestational week 28, and one with GWG. Three of the sites were replicated in an independent cohort. Several genetic variants were associated with DNA methylation at cg02786379 and cg16733643 suggesting a genetic component influencing differential methylation. The identified CpG sites were associated with cardiometabolic traits. GOV REGISTRATION NO: Not applicable.
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Enfermedades Cardiovasculares , Ganancia de Peso Gestacional , Femenino , Humanos , Embarazo , Índice de Masa Corporal , Enfermedades Cardiovasculares/genética , Estudios de Cohortes , Metilación de ADN/genética , Epigénesis Genética/genética , Epigenoma , Pueblo Europeo , Estudio de Asociación del Genoma Completo , Ganancia de Peso Gestacional/genética , Leucocitos , Personas del Sur de Asia , Metaanálisis como AsuntoRESUMEN
OBJECTIVE: Presentation of a minimally invasive surgical approach for the treatment of scapular fractures and the clinical outcome using this technique. INDICATIONS: Displaced extra-articular fractures of the scapula body and glenoid neck (AO 14B and 14F) and simple intra-articular fractures of the glenoid. CONTRAINDICATIONS: Complex intra-articular fractures and isolated fractures of the coracoid base. SURGICAL TECHNIQUE: Make a straight or slightly curved incision along the lateral margin of the scapula leaving the deltoid fascia intact. Identify the interval between the teres minor muscle and infraspinatus to visualize the lateral column, whilst retracting the deltoid to visualize the glenoid neck. Reduce and align the fracture using direct and indirect reduction tools. A second window on the medial border of the scapula can be made to aid reduction and/or to augment stability. Small (2.0-2.7â¯mm) plates in a 90° configuration on the lateral border and, if required, on the medial border are used. Intra-operative imaging confirms adequate reduction and extra-articular screw placement. POSTOPERATIVE MANAGEMENT: Direct postoperative free functional nonweight-bearing rehabilitation limited to 90° abduction for the first 6 weeks. Sling for comfort. Free range of motion and permissive weight-bearing after 6 weeks. RESULTS: We collected data from 35 patients treated with minimally invasive plate osteosynthesis (MIPO) between 2011 and 2021. Average age was 53⯱ 15.1 years (range 21-71 years); 17 had a type B and 18 a type F fracture according the AO classification. All patients suffered concomitant injuries of which thoracic (nâ¯= 33) and upper extremity (nâ¯= 25) injuries were most common. Double plating of the lateral border (nâ¯= 30) was most commonly performed as described in the surgical technique section. One patient underwent an additional osteosynthesis 3 months after initial surgery due to pain and lack of radiological signs of healing of a fracture extension into the spine of the scapula. In the same patient, the plate on the spine of scapula was later removed due to plate irritation. In 2 patients postoperative images showed a screw protruding into the glenohumeral joint requiring revision surgery. After standardisation of intra-operative imaging following these two cases, intra-articular screw placement did not occur anymore. No patient suffered from iatrogenic nerve injury and none developed a wound infection.
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Fracturas Intraarticulares , Fracturas del Hombro , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Fracturas Intraarticulares/cirugía , Resultado del Tratamiento , Fijación Interna de Fracturas/métodos , Escápula/diagnóstico por imagen , Escápula/cirugía , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Placas Óseas , Curación de FracturaRESUMEN
Seed amplification assays (SAA) are becoming commonly used in synucleinopathies to detect α-synuclein aggregates. Studies in Parkinson's disease (PD) and isolated REM-sleep behavior disorder (iRBD) have shown a considerably lower sensitivity in the olfactory epithelium than in CSF or skin. To get an insight into α-synuclein (α-syn) distribution within the nervous system and reasons for low sensitivity, we compared SAA assessment of nasal brushings and skin biopsies in PD (n = 27) and iRBD patients (n = 18) and unaffected controls (n = 30). α-syn misfolding was overall found less commonly in the olfactory epithelium than in the skin, which could be partially explained by the nasal brushing matrix exerting an inhibitory effect on aggregation. Importantly, the α-syn distribution was not uniform: there was a higher deposition of misfolded α-syn across all sampled tissues in the iRBD cohort compared to PD (supporting the notion of RBD as a marker of a more malignant subtype of synucleinopathy) and in a subgroup of PD patients, misfolded α-syn was detectable only in the olfactory epithelium, suggestive of the recently proposed brain-first PD subtype. Assaying α-syn of diverse origins, such as olfactory (part of the central nervous system) and skin (peripheral nervous system), could increase diagnostic accuracy and allow better stratification of patients.
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OBJECTIVES: To compare metal artifacts and evaluation of metal artifact reduction algorithms during probe positioning in computed tomography (CT)-guided microwave ablation (MWA), cryoablation (CRYO), and radiofrequency ablation (RFA). MATERIALS AND METHODS: Using CT guidance, individual MWA, CRYO, and RFA ablation probes were placed into the livers of 15 pigs. CT imaging was then performed to determine the probe's position within the test subject's liver. Filtered back projection (B30f) and iterative reconstructions (I30-1) were both used with and without dedicated iterative metal artifact reduction (iMAR) to generate images from the initial data sets. Semi-automatic segmentation-based quantitative evaluation was conducted to estimate artifact percentage within the liver, while qualitative evaluation of metal artifact extent and overall image quality was performed by two observers using a 5-point Likert scale: 1-none, 2-mild, 3-moderate, 4-severe, 5-non-diagnostic. RESULTS: Among MWA, RFA, and CRYO, compared with non-iMAR in B30f reconstruction, the largest extent of artifact volume percentages were observed for CRYO (11.5-17.9%), followed by MWA (4.7-6.6%) and lastly in RFA (5.5-6.2%). iMAR significantly reduces metal artifacts for CRYO and MWA quantitatively (p = 0.0020; p = 0.0036, respectively) and qualitatively (p = 0.0001, p = 0.0005), but not for RFA. No significant reduction in metal artifact percentage was seen after applying iterative reconstructions (p > 0.05). Noise, contrast-to-noise-ratio, or overall image quality did not differ between probe types, irrespective of the application of iterative reconstruction and iMAR. CONCLUSION: A dedicated metal artifact algorithm may decrease metal artifacts and improves image quality significantly for MWA and CRYO probes. Their application alongside with dedicated metal artifact algorithm should be considered during CT-guided positioning.
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Artefactos , Criocirugía , Ablación por Radiofrecuencia , Tomografía Computarizada por Rayos X , Tomografía Computarizada por Rayos X/métodos , Algoritmos , Imágenes de Microonda , Porcinos , AnimalesRESUMEN
There is no approved drug for fibromyalgia syndrome (FMS) in Europe. In the German S3 guideline, amitriptyline, duloxetine, and pregabalin are recommended for temporary use. The aim of this study was to cross-sectionally investigate the current practice of medication in FMS patients in Germany. We systematically interviewed 156 patients with FMS, while they were participating in a larger study. The patients had been stratified into subgroups with and without a decrease in intraepidermal nerve fiber density. The drugs most commonly used to treat FMS pain were nonsteroidal anti-inflammatory drugs (NSAIDs) (41.0% of all patients), metamizole (22.4%), and amitriptyline (12.8%). The most frequent analgesic treatment regimen was "on demand" (53.9%), during pain attacks, while 35.1% of the drugs were administered daily and the remaining in other regimens. Median pain relief as self-rated by the patients on a numerical rating scale (0-10) was 2 points for NSAIDS, 2 for metamizole, and 1 for amitriptyline. Drugs that were discontinued due to lack of efficacy rather than side effects were acetaminophen, flupirtine, and selective serotonin reuptake inhibitors. Reduction in pain severity was best achieved by NSAIDs and metamizole. Our hypothesis that a decrease in intraepidermal nerve fiber density might represent a neuropathic subtype of FMS, which would be associated with better effectiveness of drugs targeting neuropathic pain, could not be confirmed in this cohort. Many FMS patients take "on-demand" medication that is not in line with current guidelines. More randomized clinical trials are needed to assess drug effects in FMS subgroups.
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Fibromialgia , Neuralgia , Acetaminofén/uso terapéutico , Amitriptilina/uso terapéutico , Analgésicos/uso terapéutico , Antiinflamatorios/uso terapéutico , Antiinflamatorios no Esteroideos/uso terapéutico , Estudios Transversales , Dipirona/uso terapéutico , Clorhidrato de Duloxetina/uso terapéutico , Fibromialgia/tratamiento farmacológico , Humanos , Neuralgia/tratamiento farmacológico , Pregabalina/uso terapéutico , Inhibidores Selectivos de la Recaptación de Serotonina/uso terapéuticoRESUMEN
INTRODUCTION: Many patients with Parkinson's disease suffer from REM sleep behavior disorder, potentially preceding the onset of motor symptoms. Phospho-alpha-synuclein is detectable in skin biopsies of patients with isolated REM sleep behavior disorder several years prior to the onset of manifest PD, but information on the association between dermal phospho-alpha-synuclein deposition and REM sleep behavior disorder in patients with manifest PD is limited. We therefore aimed to investigate the alpha-synuclein burden in dermal peripheral nerve fibers in patients with Parkinson's disease with and without REM sleep behavior disorder. METHODS: Patients with Parkinson's disease (n = 43) who had undergone skin biopsy for the immunohistochemical detection of phosphorylated alpha-synuclein were screened for REM sleep behavior disorder using RBDSQ and Mayo Sleep Questionnaire. Skin biopsies from 43 patients with isolated polysomnography-confirmed REM sleep behavior disorder were used as comparators. RESULTS: Dermal alpha-synuclein deposition was more frequently found (81.8% vs. 52.4%, p = 0.05) and was more abundant (p = 0.01) in patients with Parkinson's disease suffering from probable REM sleep behavior disorder compared to patients without REM sleep behavior disorder and was similar to patients with isolated REM sleep behavior disorder (79.1%). CONCLUSION: The phenotype of REM sleep behavior disorder is associated with high amounts of dermal alpha-synuclein deposition, demonstrating a strong involvement of peripheral nerves in patients with this non-motor symptom and may argue in favor of REM sleep behavior disorder as an indicator of a "body-predominant" subtype of Parkinson's disease.
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Enfermedad de Parkinson , Trastorno de la Conducta del Sueño REM , Humanos , Enfermedad de Parkinson/genética , Polisomnografía , Trastorno de la Conducta del Sueño REM/diagnóstico , Encuestas y Cuestionarios , alfa-Sinucleína/genéticaRESUMEN
BACKGROUND AND PURPOSE: Dorsal root ganglion MR imaging (MR gangliography) is increasingly gaining clinical-scientific relevance. However, dorsal root ganglion morphometry by MR imaging is typically performed under the assumption of ellipsoid geometry, which remains to be validated. MATERIALS AND METHODS: Sixty-four healthy volunteers (37 [57.8%] men; mean age, 31.5 [SD, 8.3] years) underwent MR gangliography of the bilateral L4-S2 levels (3D-T2WI TSE spectral attenuated inversion recovery-sampling perfection with application-optimized contrasts by using different flip angle evolution, isotropic voxels = 1.1 mm³, TE = 301 ms). Ground truth dorsal root ganglion volumes were bilaterally determined for 96 dorsal root ganglia (derivation cohort) by expert manual 3D segmentation by 3 independent raters. These ground truth dorsal root ganglion volumes were then compared with geometric ellipsoid dorsal root ganglion approximations as commonly practiced for dorsal root ganglion morphometry. On the basis of the deviations from ellipsoid geometry, improved volume estimation could be derived and was finally applied to a large human validation cohort (510 dorsal root ganglia). RESULTS: Commonly used equations of ellipsoid geometry underestimate true dorsal root ganglion volume by large degrees (factor = 0.42-0.63). Ground truth segmentation enabled substantially optimizing dorsal root ganglion geometric approximation using its principal axes lengths by deriving the dorsal root ganglion volume term of [Formula: see text]. Using this optimization, the mean volumes of 510 lumbosacral healthy dorsal root ganglia were as follows: L4: 211.3 (SD, 52.5) mm³, L5: 290.7 (SD, 90.9) mm³, S1: 384.2 (SD, 145.0) mm³, and S2: 192.4 (SD, 52.6) mm³. Dorsal root ganglion volume increased from L4 to S1 and decreased from S1 to S2 (P < .001). Dorsal root ganglion volume correlated with subject height (r = . 22, P < .001) and was higher in men (P < .001). CONCLUSIONS: Dorsal root ganglion volumetry by measuring its principal geometric axes on MR gangliography can be substantially optimized. By means of this optimization, dorsal root ganglion volume distribution was estimated in a large healthy cohort for the clinically most relevant lumbosacral levels, L4-S2.
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Ganglios Espinales , Imagen por Resonancia Magnética , Adulto , Femenino , Ganglios Espinales/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética/métodos , MasculinoRESUMEN
The broad diversity of microplastic litter requires a selection of analytical techniques to reliably determine the particle's chemical composition. This study demonstrates that Laser Induced Breakdown Spectroscopy (LIBS) can identify microplastic particles based on their spectral fingerprints. By studying the spectral features of polymer reference spectra, microplastic litter can be distinguished from non-plastic materials. The results show that LIBS can be used as a fast in-situ technique for pre-characterization of the microparticle's material and is a possible tool for environmental studies on microplastics.
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Microplásticos , Contaminantes Químicos del Agua , Monitoreo del Ambiente , Rayos Láser , Plásticos , Análisis Espectral , Contaminantes Químicos del Agua/análisisRESUMEN
Supraglacial debris affects glacier mass balance as a thin layer enhances surface melting, while a thick layer reduces it. While many glaciers are debris-covered, global glacier models do not account for debris because its thickness is unknown. We provide the first globally distributed debris thickness estimates using a novel approach combining sub-debris melt and surface temperature inversion methods. Results are evaluated against observations from 22 glaciers. We find the median global debris thickness is â¼0.15 ± 0.06 m. In all regions, the net effect of accounting for debris is a reduction in sub-debris melt, on average, by 37%, which can impact regional mass balance by up to 0.40 m water equivalent (w.e.) yr-1. We also find recent observations of similar thinning rates over debris-covered and clean ice glacier tongues is primarily due to differences in ice dynamics. Our results demonstrate the importance of accounting for debris in glacier modeling efforts.
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The worldwide shortage of medical-grade ventilators is a well-known issue, that has become one of the central topics during the COVID-19 pandemic. Given that these machines are expensive and have long lead times, one approach is to vacate them for patients in critical conditions while patients with mild to moderate symptoms are treated with stripped-down ventilators. We propose a mass-producible solution that can create such ventilators with minimum effort. The central part is a module that can be attached to CPAP machines and repurpose them as low-pressure ventilators. Here, we describe the concept and first measurements which underline the potential of our solution. Our approach may serve as a starting point for open-access ventilator technologies.
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BACKGROUND: With regard to biomechanical testing of orthopaedic implants, there is no consensus on whether artificial creation of standardized bone fractures or their simulation by means of osteotomies result in more realistic outcomes. Therefore, the aim of this study was to artificially create and analyze in an appropriate setting the biomechanical behavior of standardized stable pertrochanteric fractures versus their simulation via osteotomizing. METHODS: Eight pairs of fresh-frozen human cadaveric femora aged 72.7 ± 14.9 years (range 48-89 years) were assigned in paired fashion to two study groups. In Group 1, stable pertrochanteric fractures AO/OTA 31-A1 were artificially created via constant force application on the anterior cortex of the femur through a blunt guillotine blade. The same fracture type was simulated in Group 2 by means of osteotomies. All femora were implanted with a dynamic hip screw and biomechanically tested in 20° adduction under progressively increasing physiologic cyclic axial loading at 2 Hz, starting at 500 N and increasing at a rate of 0.1 N/cycle. Femoral head fragment movements with respect to the shaft were monitored by means of optical motion tracking. RESULTS: Cycles/failure load at 15° varus deformation, 10 mm leg shortening and 15° femoral head rotation around neck axis were 11324 ± 848/1632.4 ± 584.8 N, 11052 ± 1573/1605.2 ± 657.3 N and 11849 ± 1120/1684.9 ± 612.0 N in Group 1, and 10971 ± 2019/1597.1 ± 701.9 N, 10681 ± 1868/1568.1 ± 686.8 N and 10017 ± 4081/1501.7 ± 908.1 N in Group 2, respectively, with no significant differences between the two groups, p ≥ 0.233. CONCLUSION: From a biomechanical perspective, by resulting in more consistent outcomes under dynamic loading, standardized artificial stable pertrochanteric femur fracture creation may be more suitable for orthopaedic implant testing compared to osteotomizing the bone.
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Ortopedia , Anciano , Anciano de 80 o más Años , Fenómenos Biomecánicos , Fémur/diagnóstico por imagen , Fémur/cirugía , Fijación Interna de Fracturas , Humanos , Persona de Mediana Edad , OsteotomíaRESUMEN
OBJECTIVE/METHODS: Phosphorylated alpha-synuclein (p-syn) in dermal nerves of patients with isolated REM sleep behavior disorder (iRBD) is detectable by immunofluorescence-labeling. Skin-biopsy-p-syn-positivity was recently postulated to be a prodromal marker of Parkinson's disease (PD) or related synucleinopathies. Here, we provide two-to four-year clinical and skin biopsy follow-up data of 33 iRBD patients, whose skin biopsy findings at baseline were reported in 2017. RESULTS: Follow-up biopsies were available from 25 patients (18 positive at baseline) and showed consistent findings over time in 24 patients. One patient converted from skin-biopsy-negativity to -positivity. P-syn-positivity was observed in iRBD patients who still had a normal FP-CIT-SPECT two years later. Clinically, five of the 23 at baseline skin-biopsy-positive patients (21.7%) had converted to PD or dementia with Lewy bodies at follow-up, but none of the skin-biopsy-negative patients. CONCLUSIONS: Dermal p-syn in iRBD is most probably an early consistent marker of synucleinopathy and may support other indicators of conversion to manifest disease state.
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Nervios Periféricos/patología , Síntomas Prodrómicos , Trastorno de la Conducta del Sueño REM/patología , Piel/patología , alfa-Sinucleína/metabolismo , Anciano , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Enfermedad por Cuerpos de Lewy/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/epidemiologíaRESUMEN
PURPOSE: Postoperative lymphorrhea can occur after different surgical procedures and may prolong the hospital stay due to the need for specific treatment. In this work, the therapeutic significance of the radiological management of postoperative lymphorrhea was assessed and illustrated. METHOD: A standardized search of the literature was performed in PubMed applying the Medical Subject Headings (MeSH) term "lymphangiography." For the review, the inclusion criterion was "studies with original data on Lipiodol-based Conventional Lymphangiography (CL) with subsequent Percutaneous Lymphatic Intervention (PLI)." Different exclusion criteria were defined (e.g., studies with <15 patients). The collected data comprised of clinical background and indications, procedural aspects and types of PLI, and outcomes. In the form of a pictorial essay, each author illustrated a clinical case with CL and/or PLI. RESULTS: Seven studies (corresponding to evidence level 4 [Oxford Centre for Evidence-Based Medicine]) accounting for 196 patients were included in the synthesis and analysis of data. Preceding surgery resulting in postoperative lymphorrhea included different surgical procedures such as extended oncologic surgery or vascular surgery. Central (e.g., chylothorax) and peripheral (e.g., lymphocele) types of postoperative lymphorrhea with a drainage volume of 100-4000 ml/day underwent CL with subsequent PLI. The intervals between "preceding surgery and CL" and between "CL and PLI" were 2-330 days and 0-5 days, respectively. CL was performed before PLI to visualize the lymphatic pathology (e.g., leakage point or inflow lymph ducts), applying fluoroscopy, radiography, and/or computed tomography (CT). In total, seven different types of PLI were identified: (1) thoracic duct (or thoracic inflow lymph duct) embolization, (2) thoracic duct (or thoracic inflow lymph duct) maceration, (3) leakage point direct embolization, (4) inflow lymph node interstitial embolization, (5) inflow lymph duct (other than thoracic) embolization, (6) inflow lymph duct (other than thoracic) maceration, and (7) transvenous retrograde lymph duct embolization. CL-associated and PLI-associated technical success rates were 97-100% and 89-100%, respectively. The clinical success rate of CL and PLI was 73-95%. CL-associated and PLI-associated major complication rates were 0-3% and 0-5%, respectively. The combined CL- and PLI-associated 30-day mortality rate was 0%, and the overall mortality rate was 3% (corresponding to six patients). In the pictorial essay, the spectrum of CL and/or PLI was illustrated. CONCLUSION: The radiological management of postoperative lymphorrhea is feasible, safe, and effective. Standardized radiological treatments embedded in an interdisciplinary concept are a step towards improving outcomes.
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Quilotórax , Embolización Terapéutica , Linfocele , Quilotórax/diagnóstico por imagen , Quilotórax/etiología , Quilotórax/terapia , Aceite Etiodizado , Humanos , Linfografía , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/terapia , Conducto TorácicoRESUMEN
BACKGROUND: To demonstrate the efficacy of percutaneous computed tomography (CT)-guided afferent lymphatic vessel sclerotherapy (ALVS) in the treatment of postoperative lymphatic leakage (LL) after ineffective therapeutic transpedal lymphangiography (TL). METHODS: A retrospective review in this institute involving 201 patients was conducted from May 2011 to September 2018. Patients diagnosed with postoperative LL undergoing ineffective therapeutical TL before the performance of percutaneous CT-guided ALVS were involved. Technical success and clinical success of TL and ALVS were established. The technical success and efficacy of ALVS in the treatment of postoperative LL after ineffective therapeutic TL were assessed. The clinical success rate of ALVS is also assessed, and the complications are reviewed. RESULTS: In total, nine patients were involved including three patients (33.3%) presented with chylothorax, three patients (33.3%) presented with inguinal lymphatic fistula/lymphocele, and three patients (33.3%) presented with lymphatic fistula in the thigh; 27 ± 18 days (mean ± standard deviation) after surgery, therapeutic TL was successfully performed and showed definite afferent lymphatic vessel and leakage site in all the patients. Due to clinical failure after TLs, the following ALVS was performed with a mean interval of 12 ± 8 days after TL. The technical success rate was 9/9 (100.0%, 95% confidence interval [CI] 63.1-100.0%). An average of 2.7 ± 1.3 mL 95% ethanol as sclerosant agent was injected during the procedure. The clinical success was observed in 8 of the 9 patients (88.9%, 95% CI 51.8-99.7%) with a time between ALVS and the LL cure of 8 ± 6 days. No complications were reported. CONCLUSIONS: Our results showed the role of percutaneous CT-guided ALVS as a safe, feasible, and effective salvage treatment for postoperative LL after ineffective TL.
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Linfocele/diagnóstico por imagen , Linfocele/terapia , Linfografía , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/terapia , Escleroterapia/métodos , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Radiografía Intervencional , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
In the management of patients with postoperative lymphatic fistula (LF) in different locations, iodized oil-based lymphangiography (LAG) from trans-pedal or intranodal route is an established diagnostic approach with the potential to plan further interventional treatments. However, specific lymphatic interventions are indicated depending on different locations and morphologies of the LF. After a systematic literature review, four types of interventions can be considered, including direct leakage embolization/sclerotherapy (DLE/DLS), percutaneous afferent lymphatic vessel embolization (ALVE), percutaneous afferent lymphatic vessels disruption/sclerotherapy (ALVD/ALVS), and trans-afferent nodal embolization (TNE). In the iodized oil-based LAG, three potential lymphatic targets including confined leakage, definite afferent LVs, and definite closest afferent LNs should be comprehensively assessed. For optimal prospective treatment planning for LF, iodized oil-based post-lymphangiographic computed tomography (post-LAG CT) is a useful complement to the conventional iodized oil-based LAG, which can be performed easily after LAG. This review article summarized the current evidence of the specific lymphatic interventions in patients with postoperative LF and explored the potential benefits of post-LAG CT in the intervention planning from a case series.
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BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage and multi-system disorder due to mutations in the α-galactosidase A (α-GalA) gene. We investigated the impact of individual amino acid exchanges in the α-GalA 3D-structure on the clinical phenotype of FD patients. PATIENTS AND METHODS: We enrolled 80 adult FD patients with α-GalA missense mutations and stratified them into three groups based on the amino acid exchange location in the α-GalA 3D-structure: patients with active site mutations, buried mutations and other mutations. Patient subgroups were deep phenotyped for clinical and laboratory parameters and FD-specific treatment. RESULTS: Patients with active site or buried mutations showed a severe phenotype with multi-organ involvement and early disease manifestation. Patients with other mutations had a milder phenotype with less organ impairment and later disease onset. α-GalA activity was lower in patients with active site or buried mutations than in those with other mutations (P < 0.01 in men; P < 0.05 in women) whilst lyso-Gb3 levels were higher (P < 0.01 in men; <0.05 in women). CONCLUSIONS: The type of amino acid exchange location in the α-GalA 3D-structure determines disease severity and temporal course of symptom onset. Patient stratification using this parameter may become a useful tool in the management of FD patients.
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Enfermedad de Fabry/genética , alfa-Galactosidasa/genética , Enfermedad de Fabry/complicaciones , Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/enzimología , Humanos , Conformación Molecular , Mutación MissenseRESUMEN
OBJECTIVES: To compare image quality and metal artifact reduction between virtual monochromatic spectral imaging (VMSI), linearly blended dual-energy (DE) and single-energy (SE) images, each with and without dedicated iterative metal artifact reduction (iMAR) for CT-guided biopsy. MATERIALS AND METHODS: A biopsy trocar was positioned in the liver of six pigs. DE (Sn140/100kVp) and SE (120kVp/200mAs) acquisitions were performed with equivalent dose. From dual-energy datasets DE Q30-3 images and VMSI between 40-180 keV in steps of 20 keV were generated. From SE datasets I30-3 images were reconstructed. All images were reconstructed with and without iMAR. Objective image quality was analyzed applying density measurements at standardized positions (e.g. trocar tip and liver parenchyma adjacent to the trocar tip) and semi-automated threshold based segmentation. Subjective image quality was performed using semi-quantitative scores. Analyses were performed by two observers. RESULTS: At the trocar tip quantitative image analysis revealed significant difference in CT numbers between reconstructions with iMAR compared to reconstructions without iMAR for VMSI at lower keV levels (80 and 100 keV; p = 0.03) and DE (p = 0.03). For liver parenchyma CT numbers were significantly higher in VMSI at high keV compared to low keV (p≤0.01). VMSI at high keV also showed higher CT numbers compared to DE and SE images, though not the level of statistical significance. The best signal-to-noise ratio for VMSI was at 80 keV and comparable to DE and SE. Noise was lowest at 80 keV and lower than in DE and SE. Subjective image quality was best with VMSI at 80 keV regardless of the application of iMAR. iMAR significantly improved image quality at levels of 140 keV and 160 keV. Interreader-agreement was good for quantitative and qualitative analysis. CONCLUSION: iMAR improved image quality in all settings. VMSI with iMAR provided metal artifact reduction and better image quality at 80 keV and thus could improve the accurate positioning in CT-guided needle biopsy. In comparison, DE imaging did not improve image quality compared to SE.
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Biopsia con Aguja , Procesamiento de Imagen Asistido por Computador/métodos , Biopsia Guiada por Imagen , Hígado/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Algoritmos , Animales , Artefactos , Variaciones Dependientes del Observador , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Imagen Radiográfica por Emisión de Doble Fotón , Relación Señal-Ruido , Porcinos , Vena Cava Inferior/diagnóstico por imagenRESUMEN
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
INTRODUCTION: Recently, a new classification system for sternal fractures has been published in the Journal of Orthopedic trauma by the Arbeitsgemeinschaft für Osteosynthesefragen (AO) foundation and the Orthopaedic Trauma Association (OTA). The aim of this study was to evaluate inter- and intra-observer variability of the AO/OTA classification for sternal fractures. MATERIALS AND METHODS: Twenty multidetector computed tomography (CT) scans of patients with sternal fractures were classified independently by six senior and six junior orthopedic trauma surgeons of two level-1 trauma centers. Assessment was done on two occasions with an interval of 6 weeks. The kappa value was calculated to determine variability. RESULTS: The inter-observer variability of the AO/OTA classification for sternal fractures showed fair-to-moderate agreement (kappa = 0.364). There was no significant difference between junior and senior surgeons. Analyses of the separate components of the classification demonstrated that agreement was lowest for classifying fracture type within the sternal body (kappa = 0.319) followed by manubrium (kappa = 0.525). The intra-observer variability showed moderate agreement with a mean kappa of 0.414. CONCLUSION: The inter- and intra-observer variability of the AO/OTA classification for sternal fractures shows fair-to-moderate agreement. The overall performance of the classification might be improved with minor modifications. LEVEL OF EVIDENCE: Diagnostic cross-sectional study (level I).
Asunto(s)
Fracturas Óseas , Esternón , Fracturas Óseas/clasificación , Fracturas Óseas/diagnóstico , Fracturas Óseas/diagnóstico por imagen , Humanos , Tomografía Computarizada Multidetector , Variaciones Dependientes del Observador , Esternón/diagnóstico por imagen , Esternón/lesionesRESUMEN
INTRODUCTION: The objective was to analyze patterns of injury, management, imaging, and follow-up care of renal trauma at a Swiss level 1 trauma center. METHODS: We examined 138 patients (>16 years) with renal organ injuries who presented to our institution between January 2008 and March 2018. Data on demographics, patterns of injury, clinical presentation, management, and follow-up were recorded. RESULTS: The injury grade of the 142 injured kidneys was grade 1 in 25% (nâ¯= 36), grade 2 in 16% (nâ¯= 23), grade 3 in 32% (nâ¯= 46), grade 4 in 24% (nâ¯= 34), and grade 5 in 2% (nâ¯= 3). The predominant injury mechanism was winter sports (45%). Conservative management was successful in all grade 1 renal injuries, and 91%, 86%, 35%, and 33% of grade 2, 3, 4, and 5 injuries, respectively. Early follow-up with CT or MRI scan was performed in 23% of grade 1-3 injuries and 57% of grade 4-5 injuries with clinical signs of complications as the most frequent indication for grade 1-3 injuries and routine follow-up imaging for grade 4-5 injuries, respectively. In follow-up care (1-9 months after injury) imaging showed persistent pathologies in 39% of grade 1-3 renal injuries and 62% of grade 4-5 injuries. CONCLUSIONS: Most minor renal injuries (grade 1-3) can be successfully managed conservatively. Early follow-up imaging is indicated for patients showing clinical signs of complications. Routine repeat imaging may not be justified for high-grade renal injuries without clinical symptoms. Re-imaging in follow-up care still lacks evidence-based recommendations.