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The aim of this working group was to establish a ROMSE (recording of orofacial manifestations in people with rare diseases) database to provide clinicians, patients, and their families with better information about these diseases. In 2011, we began to search the databases Orphanet, OMIM ® (Online Mendelian Inheritance in Man ® ), and PubMed, for rare diseases with orofacial symptoms, and since 2013, the collected information has been incorporated into a web-based, freely accessible database. To date, 471 rare diseases with orofacial signs have been listed on ROMSE, and 10 main categories with 99 subcategories of signs such as different types of dental anomalies, changes in the oral mucosa, dysgnathia, and orofacial clefts, have been defined. The database provides a platform for general clinicians, orthodontists, and oral and maxillofacial surgeons to work on the best treatments. [ABSTRACT FROM AUTHOR]

Objective: Mesenchymal stromal cells (MSC) are a promising tool for tissue engineering of the intervertebral disc (ID). The IDs are characterized by hypoxia and, after degeneration, by an inflammatory environment as well. We therefore investigated the effects of inflammation induced with interleukin (IL)-1beta and of hypoxia (2% O(2)) on the chondrogenic differentiation of MSC.Methods: Bone-marrow-derived MSC (bmMSC) were cultured in a fetal-calf-serum-free medium and characterized according to the minimal criteria for multipotent MSC. Chondrogenic differentiation of MSC was induced following standard protocols, under hypoxic conditions, with or without IL-1beta supplementation. After 28 days of differentiation, micromasses were analyzed by histochemical staining and immunohistochemistry and by determining the mRNA level of chondrogenic marker genes utilizing quantitative RT-PCR.Results: Micromasses differentiated under IL-1beta supplementation are smaller and express less extracellular matrix (ECM) protein. Micromasses differentiated under hypoxia appear larger in size, display a denser ECM and express marker genes comparable to controls. The combination of hypoxia and IL-1beta supplementation improved chondrogenesis compared to IL-1beta supplementation alone. Micromasses differentiated under standard conditions served as controls.Conclusion: Inflammatory processes inhibit the chondrogenic differentiation of MSC. This may lessen the regenerative potential of MSC in situ. Thus, for the cell therapy of IDs using MSC to be effective it will be necessary to manage the inflammatory conditions in situ. In contrast, hypoxic conditions exert beneficial effects on chondrogenesis and phenotype stability of transplanted MSC, and may improve the quality of the generated ECM. [ABSTRACT FROM AUTHOR]

Summary: Objective: Mesenchymal stem cells (MSCs) are a population of cells broadly discussed to support cartilage repair. The differentiation of MSCs into articular chondrocytes is, however, still poorly understood on the molecular level. The aim of this study was to perform an almost genome-wide screen for genes differentially expressed between cartilage and MSCs and to extract new markers useful to define chondrocyte differentiation stages. Methods: Gene expression profiles of MSCs (n =8) and articular cartilage from OA patients (n =7) were compared on a 30,000 cDNA-fragment array and differentially expressed genes were extracted by subtraction. Expression of selected genes was assessed during in vitro chondrogenic differentiation of MSCs and during dedifferentiation of expanded chondrocytes using quantitative and semi-quantitative reverse transcriptase-polymerase chain reaction (RT-PCR). Protein secretion was measured by enzyme-linked immunosorbent assay. Results: Eighty-seven genes were differentially expressed between MSCs and cartilage with a more than three-fold difference. Sixty-seven of them were higher expressed in cartilage and among them 15 genes were previously not detected in cartilage. Differential expression was confirmed for 69% of 26 reanalysed genes by RT-PCR. The profiles of three unknown transcripts and six protease-related molecules were characterised during differentiation. SERPINA1 and SERPINA3 mRNA expression correlated with chondrogenic differentiation of MSCs and dedifferentiation of chondrocytes, and SERPINA1 protein levels in culture supernatants could be correlated alike. Conclusions: cDNA-array analysis identified SERPINA1 and A3 as new differentiation-relevant genes for cartilage. Since SERPINA1 secretion correlated with both chondrogenesis of MSCs and dedifferentiation during chondrocyte expansion, it represents an attractive marker for refinement of chondrocyte differentiation. [Copyright &y& Elsevier]

Abstract: We present a review of the vapor phase growth of cadmium telluride under conditions of reduced gravity in space. Particular emphasis is paid to the growth in a closed system by sublimation THM. Structural and electrical properties of the material grown under microgravity (μ-g) and earth gravity (1-g) conditions are reviewed and compared. A positive influence of μ-g conditions on CdTe crystal quality is reported. A brief literature survey of the vapor growth of other semiconductors (GeTe, HgI2, CdHgTe, ZnSe) in a μ-gravity environment is also presented. [Copyright &y& Elsevier]

A potential determinant of successful bladder closures in patients with classic bladder exstrophy (CBE) is the postoperative pelvic immobilization technique. This study investigates the success rates of primary and secondary bladder closures based on various immobilization techniques from a high-volume exstrophy center. A prospectively maintained institutional exstrophy-epispadias complex database of 1336 patients was reviewed for patients with CBE who have undergone primary or secondary closures between 1975 and 2018 and subsequently had a known method of pelvic immobilization. Patients were divided into two groups: primary and secondary closures. Associations between closure outcomes and immobilization techniques were determined. A total of 476 patients with primary closures and 101 patients with secondary closures met the inclusion criteria. In total, 343 (72.1%) primary closures were successful. As shown in the table, the success rates of primary closures were highest in patients immobilized with modified Buck's and Bryant's traction (95.0% and 79.3%, respectively) and lowest in those with spica cast (49.6%). A propensity score–adjusted logistic regression (adjusting for osteotomy status, period of closure, location of closure, and closure type) revealed that modified Buck's traction had a 5.60 (95% confidence interval 1.74–23.1, p = 0.008) greater odds of success compared to spica casting during the primary closure. For the secondary closure group, there were 92 (92.1%) successful secondary closures. Success rates were highest in modified Buck's traction (97.3%) and lowest with spica casting (66.7%). This study confirms previous findings of better outcomes when patients are immobilized with external fixation and Buck's traction after adjusting for potential confounding factors. Immobilization with modified Buck's or Bryant's traction yielded significantly higher primary closure success rates when compared to spica casting. It is the authors' belief that despite a longer hospital length of stay, external fixation with Buck's traction provides the best chance of a successful closure and, thus, a financially responsible method to care for these children in the postoperative period. Table Primary and secondary successful closures by immobilization type. Table Immobilization technique Total primary closures, n Successful primary closures, n (%) Total secondary closures, n Successful secondary closures, n (%) Bryant's traction 169 134 (79.3) 16 12 (75) Buck's traction with external fixation 100 95 (95.0) 75 73 (97.3) Spica cast 139 69 (49.6) 9 6 (66.7) Mummy wrap 40 23 (57.5) 1 1 (100) Other a 28 22 (78.6) – – a Other immobilization techniques: lower extremity traction (≤4 weeks), internal pins, Velcro pelvic binder, Montgomery straps, Russell traction, Kling dressing and adduction splint for the thighs, and unspecified leg wraps. Success rates for primary closures were highest when using modified Buck's traction with external fixation and lowest for spica casts. Similarly, for secondary closures, the best outcomes were achieved using modified Buck's traction with external fixation and the lowest success rates were associated with spica casts. [ABSTRACT FROM AUTHOR]

Summary Background Primary bladder closure of classic bladder exstrophy (CBE) is a major operation that occasionally requires intraoperative or postoperative (within 72 h) blood transfusions. Objective This study reported perioperative transfusion rates, risk factors for transfusion, and outcomes from a high-volume exstrophy center in primary bladder closure of CBE patients. Study design A prospectively maintained, institutional exstrophy–epispadias complex database of 1305 patients was reviewed for primary CBE closures performed at the authors' institution (Johns Hopkins Hospital) between 1993 and 2017. Patient and surgical factors were analyzed to determine transfusion rates, risk factors for transfusions, and outcomes. Patients were subdivided into two groups based upon the time of closure: neonatal and delayed closure. Results A total of 116 patients had a primary bladder closure during 1993–2017. Seventy-three patients were closed in the neonatal period, and 43 were delayed closures. In total, 64 (55%) patients received perioperative transfusions. No transfusion reactions were observed. Twenty-five transfusions were in the neonatal closure group, yielding a transfusion rate of 34%. In comparison, 39 patients were transfused in the delayed closure group, giving a transfusion rate of 91%. Pelvic osteotomy, delayed bladder closure, higher estimated blood loss (EBL), larger pubic diastasis, and longer operative time were all associated with blood transfusion. In multivariable logistic regression, pelvic osteotomy (OR 5.4; 95% CI 1.3–22.8; P < 0.001), higher EBL-to-weight ratio (OR 1.3; 95% CI 1.1–1.6; P = 0.029), and more recent years of primary closure (OR 1.1; 95% CI 1.0–1.2; P = 0.018) remained independent predictors of receiving a transfusion (Summary Table). No adverse transfusion reactions or complications were observed. Discussion This was the first study from a single high-volume exstrophy center to explore factors that contribute to perioperative blood transfusions. Pelvic osteotomy as a risk factor was unsurprising, as the osteotomy may bleed both during and immediately after closure. However, it is important to use osteotomy for successful closure, despite the increased transfusion risk. The risks accompanying contemporary transfusions are minimal and osteotomies are imperative for successful bladder closure. Conclusions More than half of CBE patients undergoing primary closure at a single institution received perioperative blood transfusions. While there was an association between transfusions and osteotomy, delayed primary closure, larger diastasis, increased operative time, and increased length of stay, only the use of pelvic osteotomy, higher EBL-to-weight ratio, and recent year of closure independently increased the odds of receiving a transfusion on multivariate analysis. Summary Table Logistic regression to determine factors that are associated with receiving a perioperative blood transfusion in patients undergoing repair of classic bladder exstrophy. Summary table Covariate Univariate Multivariate OR 95% [CI] P -value OR 95% [CI] P -value Osteotomy 14.6 [5.9–36.0] <0.001 5.4 [1.3–22.8] 0.021 EBL-weight ratio 1.10 [1.06–1.16] <0.001 1.01 [1.003–1.13] 0.001 Year of closure 1.1 [1.03–1.17] 0.03 1.1 [1.0–1.2] 0.018 Hb, hemoglobin; ASA, American Society of Anesthesiologists; EBL, estimated blood loss. [ABSTRACT FROM AUTHOR]