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排序方式: 共有142条查询结果,搜索用时 15 毫秒
51.
Punt Ilona M. van der Most Roel Bongers Bart C. Didden Anouk Hulzebos Erik H. J. Dronkers Jaap J. van Meeteren Nico L. U. 《Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz》2017,60(4):410-418
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Das Ziel der Chirurgie ist es, die Gesundheit des Patienten zu steigern. Allerdings sind chirurgische Eingriffe mit... 相似文献
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Sietse M. Aukema Gerdien A. ten Brinke Wim Timens Yvonne J. Vos Ryan E. Accord Karianne E. Kraft Michiel J. Santing Leonard P. Morssink Esther Streefland Cleo C. van Diemen Elianne JLE Vrijlandt Christian V. Hulzebos Wilhelmina S. Kerstjens‐Frederikse 《American journal of medical genetics. Part A》2020,182(9):2152-2160
The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term‐born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant in GDF2 (c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for the GDF2 variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant in GDF2 with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. 相似文献
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Accidental ingestion of cigarettes (and butts) is mainly seen in young children. Nicotine in tobacco products is easily absorbed by the oral mucosa and intestines; absorption depends on nicotine content and pH of tobacco. Symptoms are caused by the nicotine component and usually develop rapidly (< 4 hours). The most common symptom is vomiting. Although cigarettes are potentially toxic, their ingestion by children is generally benign. Decontamination of the mouth with water may be useful. Induction of emesis is not advised. Gastric lavage is not needed in asymptomatic patients (with an unreliable history) or after vomiting. Children who ingested cigarettes should receive medical observation for four hours after ingestion. Children with significant symptoms should be admitted and eventually treated by supportive care. In symptomatic children or children with a reliable history of ingestion of large quantities who have not vomited gastric lavage with administration of activated charcoal has to be performed. When after vomiting other symptoms persist activated charcoal can be given via a nasogastric tube. 相似文献
56.
Shirish S Borkar Sevagur G Kamath Nitin Kashyap Sunil CV Sagar Lakshmi Rao Raj Warrier Aman Chauhan 《Journal of cardiothoracic surgery》2011,6(1):25
Carney complex is a very rare multiple neoplasia syndrome with cardiac, cutaneous, and neural tumours with a variety of pigmented
lesion of skin. We are reporting a rare case of carney complex in which left atrial myxoma with superficial angiomyxoma, giant
cell tumour of bone and lentigines showed a unique association. This patient underwent successful surgical excision of left
atrial myxoma under cardiopulmonary bypass. 相似文献
57.
CV Ananth KS Joseph WL Kinzler 《The journal of maternal-fetal & neonatal medicine》2013,26(6):380-387
Objective: Although twin stillbirth rates have declined substantially over the past two decades, the contribution of changes in obstetric interventions to reducing twin stillbirths has not been quantified.Methods: We carried out a retrospective cohort study of twin live births and stillbirths in the United States between 1989 and 1999 (n?=?1?102?212). Changes in the rate of stillbirth (???22 weeks) before and after adjustment for changes in labor induction, Cesarean delivery and sociodemographic factors were estimated through ecological logistic regression analysis. This analysis was based on aggregating data by each state within the United States.Results: Between 1989 and 1999, rates of labor induction and Cesarean delivery among twin live births increased by 138% (from 5.8% to 13.8%) and 15% (from 48.3% to 55.6%), respectively. These changes were accompanied by a 43% decline in the stillbirth rate between 1989 and 1999 (from 24.4 to 13.9 per 1000 fetuses at risk). After excluding births weighing <?500?g, rates of labor induction among twins at 22–27 weeks', 28–33 weeks' and ??34 weeks' gestation increased by 95%, 131% and 127%, respectively, between 1989 and 1999. Cesarean delivery rates also increased by 55%, 29% and 2% in these same gestational age categories. The 48% (relative risk (RR) 0.52, 95% confidence interval (CI) 0.49–0.55) decline in stillbirth rate between 1989–91 and 1997–99 was reduced to a 25% (RR 0.75, 95% CI 0.72–0.79) decline after adjustment for changes in labor induction and Cesarean delivery. The decline in the rate of twin stillbirths was larger at later gestational ages (at ??32 and ??34 weeks) where the largest absolute increases in labor induction rates were observed.Conclusions: The use of Cesarean delivery and especially labor induction for twin pregnancies has increased substantially in the United States over the last decade and these changes have been associated with a large decline in the rate of stillbirth among twins. 相似文献
58.
R Klaassen CV Fernandez R Yanofsky E Shereck J Champagne M Silva JH Lipton J Brossard Y Samson S Abish M Steele K Ali N Dower U Athale L Jardine JP Hand J Beyene Y Dror 《Clinical genetics》2011,79(5):448-458
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Comparative analysis of Shwachman‐Diamond syndrome to other inherited bone marrow failure syndromes and genotype–phenotype correlation. Our knowledge of the phenotypes of inherited bone marrow failure syndromes (IBMFSs) derives from case reports or case series in which only one IBMFS was studied. However, the substantial phenotypic overlap necessitates comparative analysis between the IBMFSs. Shwachman–Diamond syndrome (SDS) is an IBMFS that the appreciation of what comprises its clinical phenotype is still evolving. In this analysis we used data on 125 patients from the Canadian Inherited Marrow Failure Study (CIMFS), which is a prospective multicenter population‐based study. Thirty‐four cases of SDS patients were analyzed and compared to other patients with the four most common IBMFSs on the CIMFS: Diamond Blackfan anemia, Fanconi anemia (FA), Kostmann/severe congenital neutropenia and dyskeratosis congenita (DC). The diagnosis of SDS, FA and DC was often delayed relative to symptoms onset; indicating a major need for improving tools to establish a rapid diagnosis. We identified multiple phenotypic differences between SDS and other IBMFSs, including several novel differences. SBDS biallelic mutations were less frequent than in previous reports (81%). Importantly, compared to patients with biallelic mutations, patients with wild type SBDS had more severe hematological disease but milder pancreatic disease. In conclusion, comprehensive study of the IBMFSs can provide useful comparative data between the disorders. SBDS‐negative SDS patients may have more severe hematological failure and milder pancreatic disease. 相似文献
59.
Pfützner A Paz-Pacheco E Allen E Frederich R Chen R;CV Investigators 《Diabetes, obesity & metabolism》2011,13(6):567-576
Aim: To assess the efficacy and safety of saxagliptin + metformin initial combination therapy compared with saxagliptin or metformin alone over 76 weeks (24‐week short‐term + 52‐week long‐term extension) in treatment‐naÏve type 2 diabetes mellitus patients with inadequate glycaemic control. Methods: In this phase 3, parallel‐group, double‐blind, active‐controlled study, 1306 patients 18–77 years of age (HbA1c 8.0–12.0%) were randomized to saxagliptin 5 mg + 500 mg metformin, saxagliptin 10 mg + 500 mg metformin, saxagliptin 10 mg + placebo or 500 mg metformin + placebo. Blinded metformin was titrated during weeks 1–5 of the short‐term treatment period in 500 mg/day increments to 2000 mg/day maximum in the metformin‐based treatment groups. No titration of metformin was permitted during the long‐term treatment period. A total of 888 patients completed the study (76 weeks), 613 without being rescued. Changes in HbA1c, fasting plasma glucose, 120‐min postprandial glucose (PPG) and PPG‐area under the curve (AUC) from baseline to week 76 were analysed using a repeated‐measures model. Results: At 76 weeks, adjusted mean changes from baseline HbA1c (95% CI) for saxagliptin 5 mg + metformin, saxagliptin 10 mg + metformin, saxagliptin 10 mg and metformin were ?2.31 (?2.44, ?2.18), ?2.33 (?2.46, ?2.20), ?1.55 (?1.70, ?1.40) and ?1.79% (?1.93, ?1.65), respectively (post hoc and nominal p < 0.0001 vs. metformin and saxagliptin monotherapies for saxagliptin 5 mg + metformin and saxagliptin 10 mg + metformin). The proportions of patients requiring rescue or discontinuation for insufficient glycaemic control were lower for saxagliptin + metformin than for either monotherapy. Little or no attenuation in PPG‐AUC or 120‐min PPG was observed between weeks 24 and 76 for saxagliptin + metformin, indicating persistent efficacy. Adverse event rates were similar across groups; hypoglycaemic events occurred at a low frequency. Conclusion: Saxagliptin + metformin initial combination therapy was well tolerated and produced sustained glycaemic control for up to 76 weeks, with greater improvements in glycaemic parameters compared with either drug alone. 相似文献
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