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131.
Ana?Cotta Julia?Filardi?Paim Antonio?Lopes?da-Cunha-Junior Rafael?Xavier?Neto Simone?Vilela?Nunes Monica?Magalhaes?Navarro Jaquelin?Valicek Elmano?Carvalho Lydia?U?Yamamoto Camila?F?Almeida Shelida?Vasconcelos?Braz Reinaldo?Issao?Takata Mariz?VainzofEmail author 《BMC clinical pathology》2014,14(1):41
132.
Partial AFF2 microduplication in a patient with auditory processing disorder,emotional impairment and macrosomia
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133.
EG Burden RW Walker DJ Ferguson AMF Goubran JR Howell JB John F Khan JS McGrath JP Evans 《Annals of the Royal College of Surgeons of England》2021,103(3):173
IntroductionWith the emergence of the COVID-19 pandemic, all elective surgery was temporarily suspended in the UK, allowing for diversion of resource to manage the anticipated surge of critically unwell patients. Continuing to deliver time-critical surgical care is important to avoid excess morbidity and mortality from pathologies unrelated to COVID-19. We describe the implementation and short-term surgical outcomes from a system to deliver time-critical elective surgical care to patients during the COVID-19 pandemic.Materials and methodsA protocol for the prioritisation and safe delivery of time-critical surgery at a COVID-19 ‘clean’ site was implemented at the Nuffield Health Exeter Hospital, an independent sector hospital in the southwest of England. Outcomes to 30 days postoperatively were recorded, including unplanned admissions after daycase surgery, readmissions and complications, as well as the incidence of perioperative COVID-19 infection in patients and staff.ResultsA total of 128 surgical procedures were performed during a 31-day period by a range of specialties including breast, plastics, urology, gynaecology, vascular and cardiology. There was one unplanned admission and and two readmissions. Six complications were identified, and all were Clavien-Dindo grade 1 or 2. All 128 patients had preoperative COVID-19 swabs, one of which was positive and the patient had their surgery delayed. Ten patients were tested for COVID-19 postoperatively, with none testing positive.ConclusionThis study has demonstrated the implementation of a safe system for delivery of time-critical elective surgical care at a COVID-19 clean site. Other healthcare providers may benefit from implementation of similar methodology as hospitals plan to restart elective surgery. 相似文献
134.
Alessio Coi Michele Santoro Ester Garne Anna Pierini Marie‐Claude Addor Jean‐Luc Alessandri Jorieke E. H. Bergman Fabrizio Bianchi Ljubica Boban Paula Braz Clara Cavero‐Carbonell Miriam Gatt Martin Haeusler Kari Klungsøyr Jennifer J. Kurinczuk Monica Lanzoni Nathalie Lelong Karen Luyt Olatz Mokoroa Carmel Mullaney Vera Nelen Amanda J. Neville Mary T. O'Mahony Isabelle Perthus Judith Rankin Anke Rissmann Florence Rouget Bruno Schaub David Tucker Diana Wellesley Katarzyna Wisniewska Nataliia Zymak‐Zakutnia Ingeborg Barišić 《American journal of medical genetics. Part A》2019,179(9):1791-1798
Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We present the largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991–2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14–4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011–2015 vs. 36% in 1991–1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia. 相似文献
135.
Grossman RI; Braffman BH; Brorson JR; Goldberg HI; Silberberg DH; Gonzalez- Scarano F 《Radiology》1988,169(1):117-122
Thirteen patients with definite multiple sclerosis (MS), studied 16-24 months previously with magnetic resonance (MR) imaging with and without enhancement by intravenously administered gadolinium diethylenetriaminepentaacetic acid (DTPA) dimeglumine, were reexamined with a similar protocol. Assessment of enhancement and clinical activity in both studies revealed that enhancement was observed in 13 of 14 cases in which clinical activity had changed within 4 weeks of the study and thus appeared more sensitive than clinical examination in determining active disease. The 3-minute postinjection, short repetition time image (TR) was the most efficient for depicting enhancement. Enhancing lesions (active plaques) arose from previously hyper- or isointense regions on long TR images. Previously active lesions reverted to areas of iso- or hyperintensity on long TR images. Serial comparison of long TR images in this population reveals a decrease in high-intensity lesions on long TR images in some cases and an increase in others. The findings of high-intensity regions on long TR images and previously enhancing lesions both becoming isointense suggests that transient inflammatory changes with concomitant edema without demyelination and/or with significant remyelination may occur in some MS lesions. MS lesions are dynamic; both active and inactive lesions may show dramatic change on longitudinal MR imaging studies. 相似文献
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