Activity

We have identified a heterozygous missense mutation as the etiology for severe DEND syndrome in a one-day old neonate, presenting with asymptomatic hyperglycemia, responsive to a novel management combination.

To review the anatomy and function of the sacroiliac joint (SIJ), as well as the pathophysiology, clinical presentation, diagnostic criteria, and treatment options for SIJ dysfunction.

The SIJ serves an extremely crucial function in mobility, stability, and resistance against shear forces. Joint mobility becomes increasingly limited with age-related cartilaginous changes that begin in puberty and continue throughout life. Pain can also be localized to the SIJ itself, known as SIJ dysfunction. A literature review was performed on the anatomy, etiology, risk factors, diagnostic modalities, and treatment options for SIJ dysfunction.

SIJ dysfunction is an under-recognized source of low back pain. Dysfunction can result from various clinical conditions, as well as abnormal motion or malalignment of the joint. Diagnosis and evaluation of SIJ dysfunction are difficult, with use of physical maneuvers and image-guided anesthetic injection. Non-operative treatment options are considered first-line due to high surnding.Fatigue is a common symptom in patients with rheumatoid arthritis (RA) and in patients with cancer (CA). The aim was to investigate the degree of fatigue in RA patients as compared to CA patients as well as potential influencing factors on RA-related fatigue. This was a retrospective analyses of two prospective cohort studies that used the EORTC QLQ-FA12 as a common instrument to assess fatigue. The cohort of RA patients was based on a nationwide survey in Germany. The cohort of CA patients was recruited in the context of an international validation field study. Multivariable ANCOVAs compared levels of fatigue between the two cohorts, also including various subgroup analyses. Regression analyses explored influencing factors on RA patients’ fatigue. Data of n = 705 RA patients and of n = 943 CA patients were available for analyses. RA patients reported significantly higher Physical Fatigue (mean difference = 7.0, 95% CI 4.2-9.7, p  less then  0.001) and Social Sequelae (mean difference = 7.5, 95% CI 4.7-10.2, p  less then  0.001). CA patients reported higher Cognitive Fatigue (mean difference = 3.5, 95% CI 1.4-5.6, p = 0.001). No differences in Emotional Fatigue (p = 0.678) and Interference with Daily Life (p = 0.098) were found. In RA patients, mental health and pain were associated with fatigue (p values  less then  0.001). RA patients showed a considerable level of fatigue that is comparable to and in certain cases even higher than that of CA patients. The implementation of standardized diagnostic procedures and interventions to reduce fatigue in RA patients are recommended.Early B-cell factor-1 (EBF1) is a transcription factor with an important role in cell lineage specification and commitment during the early stage of cell maturation. Originally described during B-cell maturation, EBF1 was subsequently identified as a crucial molecule for proper cell fate commitment of mesenchymal stem cells into adipocytes, osteoblasts and muscle cells. In vessels, EBF1 expression and function have never been documented. TR-107 Our data indicate that EBF1 is highly expressed in peri-endothelial cells in both tumor vessels and in physiological conditions. Immunohistochemistry, quantitative reverse transcription polymerase chain reaction (RT-qPCR) and fluorescence-activated cell sorting (FACS) analysis suggest that EBF1-expressing peri-endothelial cells represent bona fide pericytes and selectively express well-recognized markers employed in the identification of the pericyte phenotype (SMA, PDGFRβ, CD146, NG2). This observation was also confirmed in vitro in human placenta-derived pericytes and in human brain vascular pericytes (HBVP). Of note, in accord with the key role of EBF1 in the cell lineage commitment of mesenchymal stem cells, EBF1-silenced HBVP cells showed a significant reduction in PDGFRβ and CD146, but not CD90, a marker mostly associated with a prominent mesenchymal phenotype. Moreover, the expression levels of VEGF, angiopoietin-1, NG2 and TGF-β, cytokines produced by pericytes during angiogenesis and linked to their differentiation and activation, were also significantly reduced. Overall, the data suggest a functional role of EBF1 in the cell fate commitment toward the pericyte phenotype.The pulmonary vasculature consists of a large arterial and venous tree with a vast alveolar capillary network (ACN) in between. Both conducting blood vessels and the gas-exchanging capillaries are part of important human lung diseases, including bronchopulmonary dysplasia, pulmonary hypertension and chronic obstructive pulmonary disease. Morphological tools to investigate the different parts of the pulmonary vasculature quantitatively and in three dimensions are crucial for a better understanding of the contribution of the blood vessels to the pathophysiology and effects of lung diseases. In recent years, new stereological methods and imaging techniques have expanded the analytical tool box and therefore the conclusive power of morphological analyses of the pulmonary vasculature. Three of these developments are presented and discussed in this review article, namely (1) stereological quantification of the number of capillary loops, (2) serial block-face scanning electron microscopy of the ACN and (3) labeling of branching generations in light microscopic sections based on arterial tree segmentations of micro-computed tomography data sets of whole lungs. The implementation of these approaches in research work requires expertise in lung preparation, multimodal imaging at different scales, an advanced IT infrastructure and expertise in image analysis. However, they are expected to provide important data that cannot be obtained by previously existing methodology.

Few studies have investigated the long-term oncological outcomes of the self-expandable metallic stent (SEMS) as a bridge to surgery (BTS) for obstructive colorectal cancer (OCRC). We conducted this study to compare the short- and long-term outcomes of the SEMS with those of the traditional transanal decompression tube (TDT) in patients with stage II and III left-sided OCRC.

The subjects of this retrospective study were 78 patients with pathological stage II and III left-sided OCRC who underwent radical surgery after SEMS or TDT placement, between April, 2005 and September, 2019. We compared perioperative data, including decompression success rates and 3-year relapse-free survival (RFS), between the SEMS and TDT groups.

A SEMS was placed in 60 (76.9%) patients and a TDT was placed in 18 (23.1%) patients, achieving a clinical success rate of decompression of 98.3% in the SEMS group and 77.8% in the TDT group (P = 0.009). The 3-year RFS of the overall cohort was better in the SEMS group than in the TDT group (74.9% vs. 40.9%, respectively; P = 0.003).

Decompression using a SEMS as the BTS may improve oncological outcomes over those achieved by a TDT in patients with left-sided stage II and III OCRC.

Decompression using a SEMS as the BTS may improve oncological outcomes over those achieved by a TDT in patients with left-sided stage II and III OCRC.Invasive pulmonary aspergillosis induced by the pathogenic fungus Aspergillus fumigatus is one of the common fatal complications in immunocompromised patients. Lung epithelial cells play an important role in host immune defense against A. fumigatus. However, the interaction between lung epithelial cells and A. fumigatus conidia is not fully understood. In this study, we used the swollen conidia of A. fumigatus to stimulate the type II lung epithelial A549 cells. Results showed that swollen conidia could significantly increase RNA transcription and protein expression of interleukin 8 (IL-8) and monocyte chemoattractant protein 1 (MCP-1), but not TNF-α in A549 cells in a time-dependent manner. Moreover, serum opsonization was able to improve the release of inflammatory factors induced by swollen conidia. Blocking of the dectin-1 or CR3 receptors, or both simultaneously, in the A549 cells could decrease the release of IL-8 and MCP-1. Additionally, blocking dectin-1 or CR3 could inhibit the transcription of nuclear factor NF-κB that was activated by swollen conidia. Here we reported for the first time that dectin-1 and CR3 receptors in A549 cells mediate the release of pro-inflammatory factors IL-8 and MCP-1 induced by A. fumigatus.

To analyze the initial impact of the SARS-CoV-2 pandemic on surgical skills training and performance of Pediatric Surgery Residents.

Retrospective study considering the modifications on the Pediatric Surgery Residency training from March 1st-May 31st, 2020. Exposure to OR learning opportunities was compared to the same 2018-2019 trimesters. An anonymous survey about self-perception on surgical skills development was also performed.

Residents performed 209 procedures as leading surgeons during the 2020 trimester with a mean number of surgeries per resident of 20.9, representing a reduction of 46% and 56.8% compared to the 2018-2019 averages, respectively. Reduction in both the number and the percentage of total procedures (n 209, 56.8%) compared to both 2019 (n 354, 68.7%, p 0.000272) and 2018 (n 420, 76.1%, p < 0,00,001) showed statistical correlation with no changes in their complexity pattern. From the survey (response rate 100%), hours dedicated to simulation-based training were highly increased. More time was spent studying, but only 60% achieved better preparation for surgery and 70% perceived a decrease in surgical confidence.

Even though the pandemic promoted new teaching strategies and the use of simulation-based training, it drastically reduced “on-the-job” learning opportunities with potential effects on residents’ performance and self-confidence during surgery.

Even though the pandemic promoted new teaching strategies and the use of simulation-based training, it drastically reduced “on-the-job” learning opportunities with potential effects on residents’ performance and self-confidence during surgery.

It is unknown if failed preoperative vacuum bell (VB) treatment in patients undergoing minimally invasive repair of pectus excavatum (MIRPE), delays repair and/or affects postoperative outcomes.

A retrospective data analysis including all consecutive patients treated at one single institution undergoing MIRPE was performed between 2000 and 2016. Patients were stratified into preoperative VB therapy versus no previous VB therapy.

In total, 127 patients were included. Twenty-seven (21.3%) patients had preoperative VB treatment for 17months (median, IQR 8-34). All 27 patients stopped VB treatment due to the lack of treatment effect. Eight (47.1%) of 17 assessed VB patients showed signs of skin irritation or hematoma. VB treatment had no effect on length of hospital stay (p = 0.385), postoperative complications (p = 1.0), bar dislocations (p = 1.0), and duration of bar treatment (p = 0.174). Time spent in intensive care unit was shorter in patients with VB therapy (p = 0.007). Long-term perception of treatment including rating of primary operation (p = 0.