Rodgersingram4093

6% [n = 16/74] 2008-2012 vs 16.5% [n = 30/182] in 2012-2019). CONCLUSION A prenatal genetic clinic with a structured multi-disciplinary team approach may be successful in obtaining a unifying prenatal genetic diagnosis. © 2020 John Wiley & Sons, Ltd.The human WW domain containing oxidoreductase (WWOX) gene has been identified as a tumor suppressor gene. However, recent reports have demonstrated its dominant role in autosomal recessive disorders of the central nervous system, especially in early onset epileptic encephalopathy. Here, we report a Chinese case with novel compound heterozygous mutation of WWOX gene (c.229_230+2del mutation originated from her mother and c.1065dup (p.Ala356Serfs*173) variation from her father), and compare them to previously reported 59 WWOX-related epileptic encephalopathy (WOREE). Early onset and frequent epileptic seizures in the postnatal period, hypsarrhythmia patterns in EEG background and retarded development are the most important characteristics of WOREE in infants. Although the seizures in our case can be controlled by phenobarbital and topiramate, the prognosis of WOREE is poor. © 2020 ISDN. Published by John Wiley & Sons Ltd.BACKGROUND Hospital readmission (HR) after surgery is considered a quality metric. METHODS Data on 2371 first-time adult kidney transplant (KT) recipients were collected to analyze the "early" (≤30 days) and "late" (31-365 days) HR patterns after KT at a single center over a 12-year time span (2002-2013). RESULTS 30-day, 90-day, and 1-year HR were 31%, 41%, and 53%, respectively. Risk factors for HR included age >50, female sex, black race, BMI >30, transplant LOS >5 days, and pre-transplant time on dialysis >765 days. Selleck Dihydroartemisinin Indications for early (n = 749) and late (n = 508) HR were similar. Early HR (OR 3.80, P = .007) and black race (OR 2.38, P = .009) were associated with higher odds of 1-year graft failure while frequency (1-2, 3-4, 5+) of HR (ORs 4.68, 8.36, 9.44, P  5 days increased both odds of 1-year graft failure (OR 3.51, P = .001) and mortality (OR 2.05, P = .006). One-year graft and recipient survival were 96.7% and 94.8%, respectively. CONCLUSIONS Hospital readmission was associated with reduced graft and patient survival; however, despite a relatively high and consistent HR rate after KT, overall 1-year graft and patient survival was high. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.BACKGROUND Skin diseases are among the most common occupational diseases, but detailed analyses on their epidemiology, diagnoses, and causes are relatively scarce. OBJECTIVES To analyze data on skin disease in the Finnish Register of Occupational Diseases (FROD) for (1) different diagnoses and (2) main causes of allergic contact dermatitis (ACD). METHODS We retrieved data on recognized cases with occupational skin disease (OSD) in the FROD from a 12-year-period 2005-2016 and used national official labor force data of the year 2012. RESULTS We analyzed a total of 5265 cases, of which 42% had irritant contact dermatitis (ICD), 35% ACD, 11% contact urticaria/protein contact dermatitis (CU/PCD), and 9% skin infections. The incidence rate of OSD in the total labor force was 18.8 cases/100 000 person years. Skin infections concerned mainly scabies in health care personnel. Twenty-nine per cent of the ACD cases were caused by plastics/resins-related allergens, mainly epoxy chemicals. Other important causes for ACD were rubber, preservatives, metals, acrylates, and hairdressing chemicals. Cases of occupational ACD due to isothiazolinones reached a peak in 2014. CONCLUSION Our analysis confirms that epoxy products are gaining importance as causes of OSD and the isothiazolinone contact allergy epidemic has started to wane. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.INTRODUCTION Transfusion protocols are not well-studied for pediatric patients with acute liver failure (ALF). This study evaluates the utility of an international normalized ratio (INR)-based transfusion threshold for these patients. METHODS Forty-four ALF pediatric patients from 2009 to 2018 were reviewed and divided into two groups (a) a threshold group including patients between 2009 and 2015 who were transfused for an INR above 3.0, per institutional policy (n = 30), and (b) a post-threshold group including patients after 2015 through 2018 who were transfused based on clinical judgment (n = 14). Preoperative INRs, preoperative transfusions, intraoperative transfusions, early reoperation, renal function, graft function and deaths were compared. RESULTS Liver failure severity was similar between threshold and post-threshold groups. Threshold patients had a lower average INR prior to transplantation, 2.8 (range 1.8-3.8) vs 4.4 (range 2.1-9.0), respectively (P = .01). Twenty-six threshold patients (87%) received preoperative FFP compared with seven post-threshold patients (50%, P = .0088). Two threshold patients (7%) received preoperative cryoprecipitate compared with five post-threshold patients (36%, P = .014). link2 The incidence of pre-transplant bleeding, operative transfusions, and 1-year patient and graft survival did not differ significantly. CONCLUSION Clinical judgment vs an INR-based threshold for transfusions did not increase perioperative complications in children with ALF. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.PURPOSE This study, conducted at a public university in Turkey, sought to determine the effects of yoga-based physical activity on perceived stress, anxiety, and quality of life in young adults. DESIGN AND METHODS This study was planned as a semiexperimental nonrandomized study with a control group. FINDINGS Yoga-based physical activity decreased the perceived stress and state anxiety levels, but had no effect on trait anxiety levels and quality of life. PRACTICAL IMPLICATIONS It is recommended that yoga-based treatment can be included in nursing interventions for reducing stress and anxiety levels in young adults. © 2020 Wiley Periodicals, Inc.Long noncoding RNA colon cancer-associated transcript 2 (CCAT2) has been recently found to function as an oncogene in hepatocellular carcinoma (HCC). However, the mechanisms of CCAT2 in HCC development remain to be further explored. In the present study, we found that CCAT2 was abnormally upregulated in HCC cells and tissue specimens, exhibiting an inverse correlation with microRNA (miR)-145 expression. Mechanistic investigation showed that CCAT2 selectively blocked miR-145 processing, leading to decreased mature miR-145 presence. Both the in vitro and in vivo effects of CCAT2 knockdown on the proliferation and metastasis of HCC cells were reversed by miR-145 inhibitor, indicating that miR-145 modulation accounts for CCAT2-meditated HCC progression. Furthermore, miR-145 mimic dramatically suppressed HCC cells' proliferation and metastasis, revealing a tumor suppressor role of miR-145 in HCC. Mechanistically, MDM2 was predicted to be a potential target of miR-145. The luciferase and western blot assay demonstrated that miR-145 mimic largely inhibited MDM2 3'-untranslated region luciferase activity and MDM2 expression, followed by the upregulation of p53/p21 expression. Finally, the coexpression of MDM2 in miR-145 mimic-transfected HCC cells was able to largely compromise the inhibitory effects of miR-145 mimic on HCC cells' proliferation and metastasis in vitro and tumor formation in a xenograft model, confirming MDM2 is the critical mediator of miR-145 in HCC. In summary, our findings indicated that CCAT2 selectively blocks the miR-145 maturation process and plays an oncogene in HCC. Furthermore, a novel CCAT2/miR-145/MDM2 axis was revealed in HCC development and might provide a new target in the molecular treatment of HCC. link3 © 2020 Wiley Periodicals, Inc.OBJECTIVE The purpose of this study is to describe the imaging findings in a group of fetuses with suspected ASP and to evaluate their clinical outcome. METHODS This is a retrospective multicenter study on a cohort of fetuses diagnosed with suspected ASP, between 2008-2017. The records of each patient, including ultrasound and MR studies, were reviewed and compared with the postnatal findings. RESULTS Forty seven patients were included in the study at a mean gestational age of 26.6 weeks. In 17 patients, the ASP was considered isolated. 14 patients delivered liveborn, and all 14 are developing normally. Three were lost to follow-up. Twenty four patients had associated malformations involving the CNS; 13 were delivered (normal development (5), abnormal (6) and no follow-up (2)). Nine patients opted for termination, and two pregnancies were lost to follow-up. Six patients had non-CNS associated findings, two were delivered with normal neurological development and four had a termination. CONCLUSIONS Isolated agenesis of the Septum Pellucidum is usually associated with favorable outcome; but in the presence of associated malformations, there is at least a 50% risk of abnormal development. Current imaging techniques can provide an accurate prognosis in cases when ASP appears isolated. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.Preimplantation genetic testing for monogenic conditions (PGT-M) has become a valued reproductive option for couples at risk of having a child with a single gene condition. In line with developments in molecular genetics, there has been an overall trend toward laboratory techniques with higher accuracy in comparison to earlier PGT-M techniques. The recommendation for confirmatory prenatal diagnostic testing has remained a standard component of PGT-M counseling, reflecting the inherent difficulties of testing the limited number of cells obtained from embryo biopsy, as well as recognition of the biological and human factors that may lead to misdiagnosis in a PGT-M cycle. Reported misdiagnosis rates are less than 1 in 200 pregnancies following PGT-M, although updated data regarding newer methods of PGT-M are required. There is limited evidence available regarding clinician and patient behavior in pregnancies resulting from PGT-M cycles. It remains essential that clinicians involved in the care of patients undergoing PGT-M provide appropriate counseling regarding the risks of misdiagnosis and the importance of confirmatory prenatal diagnosis. The nature of PGT-M test design lends itself to cell-free DNA-based noninvasive prenatal testing for monogenic conditions (NIPT-M), which is likely to become a popular method in the near future. © 2020 John Wiley & Sons, Ltd.OBJECTIVES To evaluate the ultrasound (US) features and rate of upgrade to malignancy in atypical apocrine lesions (AALs) of the breast, diagnosed on percutaneous needle biopsy. METHODS This retrospective study included 17 AALs diagnosed by needle biopsy in 15 patients. For 16 of the 17 AALs, subsequent surgical excision (n = 14) or 8-gauge vacuum-assisted biopsy (n = 2) was performed. Ultrasound features were retrospectively analyzed according to the American College of Radiology Breast Imaging Reporting and Data System lexicon. RESULTS Of 17 AALs, 13 (76.5%) were atypical apocrine hyperplasia; 3 (17.6%) were atypical apocrine adenosis; and 1 (5.9%) was combined atypical apocrine hyperplasia and atypical apocrine adenosis on needle biopsy. Subsequently, 4 of 16 AALs (25%) were upgraded to malignancy at surgical excision. On US imaging, all 17 lesions presented as masses, which were mainly irregular and noncircumscribed (n = 8) or oval/round and noncircumscribed (n = 7) with isoechogenicity or hypoechogenicity.