31 research outputs found

    Vacuum biopsy of the breast

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    Background. Mammotome is a percutaneous biopsy technique with a large needle, assisted by vacuum aspiration. The single insertion technique allows to collect multiple large tissue samples, which gives a more reliable histological result. The technique can be used under stereotactic, MRl or ultrasound guidance. The technique is used under local anesthesia, on an outpatient basis. Conclusions. Altough it is essentially a diagnostic technique, it has a therapeutic potential in some cases. Recently, the technique has been FDA approved for the removal of benign nodular lesions. Worldwide, over 2 million procedures have already been performed. It has the potential to replace surgical open biopsy, with a similar accuracy and at a lower cost, and it is less invasive

    Cystic Periventricular Leukomalacia: A Condition that Became Uncommon in the Premature Neonate, Diagnosed on Transcranial Ultrasound

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    A preterm neonate was born in our center, as a part of a diamniotic dichorionic twin pregnancy, complicated with placental abruption with need for urgent cesarean section at 26 weeks of gestation. After a difficult neonatal start with respiratory and cardiovascular problems, the neonate safely reached the neonatal intensive care unit. Further work-up and supportive care was continued. Transcranial ultrasound imaging through the anterior fontanel was part of this work-up. Initial examinations were not normal, and showed cystic lesions along the germinal matrix, without hydrocephalus or parenchymal lesions. The findings were highly suggestive of sequellae of grade II germinal matrix bleed according to Papile and Burstein (Image A). Further follow-up examinations by means of ultrasound depicted a discrete enlargement of the lateral ventricles over time (Image B). Later on development of widespread periventricular cystic lesions became apparent (Image C and D). The cystic lesions are located in the periventricular white matter, and are not attached to the ventricles. This finding makes cystic periventricular leukomalacia the preferred diagnosis, and makes venous infarction with cystic alterations secondary to germinal matrix bleeding less likely

    Nutrient intake and its possible drivers in free-ranging European brown bears (Ursus arctos arctos)

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    The dietary nutrient profile has metabolic significance and possibly contributes to species' foraging behavior. The brown bear (Ursus arctos) was used as a model species for which dietary ingredient and nutrient concentrations as well as nutrient ratios were determined annually, seasonally and per reproductive class. Brown bears had a vertebrate-and-ant-dominated diet in spring and early summer and a berry-dominated diet in fall, which translated into protein-rich and carbohydrate-rich diets, respectively. Fiber concentrations appeared constant over time and averaged at 25% of dry matter intake. Dietary ingredient proportions differed between reproductive classes; however, these differences did not translate into a difference in dietary nutrient concentrations, suggesting that bears manage to maintain similar nutrient profiles with selection of different ingredients. In terms of nutrient ratios, the dietary protein to non-protein ratio, considered optimal at around 0.2 (on metabolizable energy basis), averaged around 0.2 in this study in fall and around 0.8 in spring and summer. We introduced the minimal non-fat to fat ratio necessary for efficient maintenance metabolism. This ratio varied across seasons but never fell beneath the theoretically estimated minimum to ensure metabolic efficiency. This population thus managed to ingest diets that never exerted a lack of glucogenic substrate, suggesting that metabolic efficiency may either be a driver of active diet selection or that natural resources available to bears did not constitute a constraint in this respect. Given the considerable proportion of fiber in the diet of brown bears, the relevance of this nutrient and its role in foraging behavior might be underestimated

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

    Implementation of Robotic Surgery in a Pediatric Hospital: Lessons Learned

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    Since the late 1980s, minimally invasive surgery (MIS) has been one of the fastest growing approaches for surgical procedures. However, its development has reached a plateau. One of the reasons is the difficulty to operate on more complex cases, such as neonatal procedures. Some experts report outstanding outcomes for complex operations, but not all surgeons may be able to achieve the same results. Is robotic surgery (RS) a solution? Methods: To answer this question, we reviewed the current indications of RS for the pediatric population and the steps needed to incorporate the robotic surgical system in a children's hospital. We reported our experience and presented our first results and the encountered problems. Results: After a year and a half of experience with RS, several lessons were learned: (1) the current robotic surgical system cannot yet be considered a replacement to conventional MIS, (2) docking is less time consuming than expected, (3) postoperative pain is significantly decreased, (4) the absence of haptic feedback is still a matter of concern, and (5) costs can be afforded by sharing the RS with adult surgeons. Conclusions: Based on our experience, the advantages seem to outweigh the drawbacks as it encourages team building and increases overall comfort for the surgeon. However, the current literature fails to prove that RS gives better results for pediatric patients. New advances in technology will probably help to overcome the encountered difficulties and the high costs.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Diagnostic et gestion d'un cas particulier de constipation opiniâtre

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    Constipation is a very common pattern in childhood. There are multiple reasons for constipation including one very rare :chronic intestinal pseudo-obstruction syndrome. We report the case of a young patient monitored for multiple incidents of intestinal pseudo- obstruction with intractable constipation. The patient underwent several surgical interventions to relieve his symptoms because the non operative treatments, based on liquid diet and laxatives, didn't show great effectiveness. We will review the differential diagnosis of chronic constipation and we will discuss the particular diagnostic entity of this patient. We will also discuss the different treatments that allowed to provide tolerance to oral feeding.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

    Physical fitness of elite Belgian soccer players by player position

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    The purpose of this study was to gain an insight into the physical and physiological profile of elite Belgian soccer players with specific regard to the player's position on the field. The sample consisted of 289 adult players from 6 different first division teams. The players were divided into 5 subgroups (goalkeepers, center backs, full backs, midfielders, and strikers) according to their self-reported best position on the field. The subjects performed anaerobic (10-m sprint, 5 x 10-m shuttle run [SR], squat jump [SJ], and countermovement jump [CMJ]) and aerobic (incremental running protocol) laboratory tests. The strikers had significantly shorter sprinting times (5-, 5-to 10-m time, and SR) compared with the midfielders, center backs, and goalkeepers, whereas the full backs were also significantly faster compared with the goalkeepers and the center backs. The goalkeepers and the center backs displayed higher jumping heights (total mean SJ = 40.7 +/- 4.6 cm and CMJ = 43.1 +/- 4.9 cm) compared with the other 3 positions, whereas the strikers also jumped higher than the full backs and the midfielders did. Regarding the aerobic performance, both full backs and the midfielders (61.2 +/- 2.7 and 60.4 +/- 2.8 ml.min(-1).kg(-1), respectively) had a higher (V) over dotO(2)max compared with the strikers, center backs, and goalkeepers (56.8 +/- 3.1, 55.6 +/- 3.5, and 52.1 +/- 5.0 ml.min(-1).kg(-1), respectively). From this study, it could be concluded that players in different positions have different physiological characteristics. The results of this study might provide useful insights for individualized conditional training programs for soccer players. Aside from the predominant technical and tactical skills, a physical profile that is well adjusted to the position on the field might enhance game performance
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