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71.
Mitchell LE, Risch N. Correlates of genetic risk for non-syndromic cleft lip with or without cleft palate. Clin Genet 1993: 43: 255–260. © Munksgaard, 1993 Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non-syndromic cleft lip with or without cleft palate (CL \pm P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first-degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25-3.19). A positive family history of clefting increases the risk to siblings by greater than 4-fold (O.R. =4.49; 95% C.I. 2.74-7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the ‘at risk’ population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases. Furthermore, our findings indicate that the power to detect linkage between a genetic marker or a candidate gene and CL \pm P will increase if the study population is ascertained through individuals with bilcteral clefts of the lip, rather than through individuals with either unilateral or bilateral CL \pm P. 相似文献
72.
Peer Arts Jessica Garland Alicia B. Byrne Tristan S.E. Hardy Milena Babic Jinghua Feng Paul Wang Thuong Ha Sarah L. King‐Smith Andreas W. Schreiber April Crawford Nick Manton Lynette Moore Christopher P. Barnett Hamish S. Scott 《American journal of medical genetics. Part A》2020,182(5):1273-1277
Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one‐day‐old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post‐zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow‐up studies for presumed de novo and low‐level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations. 相似文献
73.
Motonobu Nishimura MD Takashi Nishimura MD Masayuki Ishikawa MD Ayumu Masuoka MD Nobuyuki Okamura MD Keiko Abe MD Takahiro Matsuoka MD Mika Iwazaki MD Kazuhito Imanaka MD Haruhiko Asano MD Shunei Kyo MD 《Journal of artificial organs》2006,9(4):209-213
The presence of a significant organ dysfunction does not immediately exclude patients from consideration for treatment with
a left ventricular assist system (LVAS). However, in treating morbid circulatory shock patients with multiple organ failure,
it is important to know the preoperative and postoperative factor or factors related to the recovery of the damaged organ
function. In this study, we retrospectively analyzed patients receiving a LVAS at our institution and tried to determine the
important factors related to the survival of patients with multisystem failure. Twenty-seven patients who underwent LVAS placement
at Saitama Medical School Hospital between 1993 and 2003 were included in this study. The preoperative risk factors analyzed
were renal dysfunction, respiratory dysfunction, hepatic dysfunction, the existence of active infection, and the combination
of all four factors. As a postoperative factor, the pump flow index (mean LVAS pump flow during the first 2 weeks after LVAS
surgery divided by the body surface area) was analyzed. None of the analyzed preoperative factors could predict survival after
LVAS surgery, but a pump flow index of less than 2.5 l/min/m2 had a significant relationship with death after LVAS surgery. Further analysis revealed that all the patients with a pump
flow index of 3.0 l/min/m2 or more could overcome preoperative organ dysfunction. Congestive heart failure patients with multisystem failure need luxury
pump flow for successful LVAS surgery; this factor could be especially important in device selection and postoperative management. 相似文献
74.
T A Rich 《International journal of radiation oncology, biology, physics》1985,11(4):759-763
Radiation therapy (XRT) for 41 patients with unresectable pancreatic cancer resulted in a median survival of 7.0 months. There was no difference in median survival for patients receiving external beam alone (3500 to 5600 cGy) (n = 28), intraoperative (IORT) boost plus external beam (5040 to 6750 cGy) (n = 9), or a gold-198 implant +/- external beam radiation (n = 4). A pilot study using orthovoltage IORT boost indicates no acute toxicity with doses of 1250 to 1750 cGy. Serious late damage has not been observed in any patients followed to 2 years. Local recurrence in patients treated post-operatively after "radical" surgery occurred in one of 10 (10%). This adjuvant treatment is safe and appears to improve local control rates compared to historical data, but survival is still poor. The median survival for the post-operative group is 10 months; three patients are alive without disease 8 months to 8.3 years after treatment. 相似文献
75.
Journal of Anesthesia - 相似文献
76.
术前孤立性CRP升高与体外循环术后并发症的相关性 总被引:1,自引:0,他引:1
目的探讨无感染的、术前孤立性C-反应蛋白(CRP)增加,对于体外循环心脏术后的结果,是否有预测性价值。方法分术前孤立性CRP升高(10.5~70.2mg/L)50例(A组)与CRP正常(<10mg/L)50例对照(B组),B组匹配A组在年龄、性别和疾病种类,两组均进行体外循环心脏手术。结果A组脓毒性并发症(20%)比对照组(2%)多(P<0.01)。这些病人微生物学阳性仅10%。A组中需要儿茶酚胺支持的占28%,而B组仅12%(P<0.05)。A组较B组术后需呼吸机支持的时间明显延长(25.2±6.2h比6.6±0.5h)(P<0.01)、ICU滞留时间也较B组长(4.6±0.8d比2.6±0.3d)(P<0.05)。结论术前孤立性CRP升高的病人,体外循环术后,发生脓毒性并发症的可能性明显增加。且大多数病例微生物学实验阴性,推测大多数脓毒性并发症是由于全身炎症反应综合征的原因。 相似文献
77.
《Actas urologicas espa?olas》2021,45(10):615-622
Introduction and objectivesPreoperative renal artery embolization (PRAE) for large renal masses may be performed prior to nephrectomy in order to simplify the procedure and reduce intraoperative bleeding. The objective of this work is to determine the role of PRAE on intraoperative bleeding and postoperative complications in left renal tumors with tumor thrombus limited to the left renal vein (level 0).Material and methodsRetrospective analysis to evaluate 46 patients who underwent left radical nephrectomy and thrombectomy for the treatment of renal cell carcinoma with level 0 tumor thrombus during the period 1990-2020. PRAE was limited to those cases in which surgical access to the main renal artery was presumed a priori difficult in the preoperative imaging study (n = 9; 19.6%). Intraoperative bleeding was estimated based on the perioperative transfusion rate, and postoperative complications were categorized according to the Clavien-Dindo classification. The Chi-squared test was used for comparisons. A multivariate analysis was performed to identify predictors of transfusion and complications.ResultsThere were no significant differences in the overall complication rate (11.1% vs. 32.4%, P = .19), major complication rate (0% vs.8.1%, P = .51), or transfusion rate (11.1% vs. 19%, P = .49) between both groups (PRAE vs. non-PRAE). In the multivariate analysis, PRAE did not behave as a predictor of complications (OR:0.11, 95%CI 0.01-2.86; P = .18) nor transfusion (OR:0.46, 95%CI 0.02-7.38;P = .58).ConclusionsIn our study on left renal cell carcinomas with level 0 tumor thrombus and difficult access to the main renal artery, PRAE was not associated with increased bleeding or postoperative complications, and it did not behave as an independent predictor of these variables. Therefore, it could be used as a preoperative maneuver to facilitate vascular management in selected cases. 相似文献
78.
Shigeru YAMAGUCHI Hiroaki MOTEGI Yukitomo ISHI Michinari OKAMOTO Ryosuke SAWAYA Hiroyuki KOBAYASHI Shunsuke TERASAKA Kiyohiro HOUKIN 《Neurologia medico-chirurgica》2021,61(4):245
Bevacizumab (BEV) is a key anti-angiogenic agent used in the treatment for recurrent glioblastoma multiforme (GBM). The aim of this study was to investigate whether cytoreductive surgery prior to treatment with BEV contributes to prolongation of survival for patients with recurrent GBM. We retrospectively analyzed the treatment outcomes of 124 patients with recurrent GBM who were initially treated with the Stupp protocol between 2006 and 2019. Given that BEV has only been available in Japan since 2013, we grouped the patients into two groups according to the time of first recurrence: the pre-BEV group (N = 51) included patients who had recurrence before BEV approval, and the BEV group (N = 73) included patients with recurrence after BEV approval. The overall survival after first recurrence (OS-R) was analyzed according to the treatment strategy. Among 124 patients, 27 patients (19.4%) received cytoreductive surgery. There were nine cases in the pre-BEV group and 18 cases in the BEV group. Although the mean extent of resection for both groups was almost equal, OS-R was significantly different. The median OS-R was 8.1 m in the pre-BEV group and 16.3 m in the BEV group (P = 0.007). Multivariate analysis revealed that the unavailability of BEV postoperatively (P = 0.03) and decreasing performance status by surgery (P = 0.01) were significant poor prognostic factors for survival after surgery. With the advent of BEV, cytoreductive surgery might provide superior survival benefit at the time of GBM recurrence, especially in cases where surgery can be performed without deteriorating the patient’s condition. 相似文献
79.
Dhruva Sharma Ganapathy Subramaniam Neha Sharma 《Indian Journal of Thoracic and Cardiovascular Surgery》2021,37(3):323
Cardiac surgeries especially involving crux of the heart as performed in tetralogy of Fallot (TOF) and pulmonary stenosis are mainly responsible for junctional ectopic tachycardia (JET). Diversified antiarrhythmic agents have been used in an impressive way to treat JET but showed suboptimal efficacy and varied associated adverse effects. But, ivabradine has proved as final crusader for its treatment. We report our initial experience of 4 cases in last 6 months with ivabradine in the management of postoperative JET. Encouraged by various reports and our increasing experience with ivabradine in heart failure population, we have moved to ivabradine as the first drug of choice for postoperative JET. Bradycardia was the only significant adverse effect in our series. The availability of atrial and ventricular pacing wires or at least transvenous temporary pacing should be ensured before starting ivabradine. 相似文献
80.
BackgroundRadiotherapy after breast-conserving surgery (BCS) is not always necessary in older women staged T1N0M0 with low-risk invasive breast cancer, but few studies have concluded the detailed tumor size as a reference for avoiding radiotherapy. The study was conducted to explore and identify the optimal cutoff tumor size.MethodsThe study population was from the Surveillance, Epidemiology, and End Results (SEER) database in 2010–2016. Propensity score matching was used to balance the confounders between groups. Predictors associated with survival were analyzed by Kaplan–Meier, X-tile, Cox proportional hazards model and competing risk model.ResultsA total of 52049 women and 3846 deaths were included in the cohort with a median follow-up of 34 months. Based on the cutoff value determined by X-tile analysis, the study population were divided into small tumor group (≤14 mm in diameter) and large tumor group (>14 mm in diameter). Small tumors and radiotherapy were correlated with better breast cancer-specific survival (BCSS). In subgroup analysis, the absolute benefit of BCSS in 6 years attributed to radiotherapy was only 0.90% (RT vs. non- RT:98.77% vs. 97.87%) for patients with small tumors but up to 3.33% (RT vs. non- RT:97.10% vs. 93.77%) for those with large tumors.ConclusionSmall tumors and adjuvant radiotherapy were associated with improved long-term prognosis, and 14 mm in diameter was the cutoff tumor size of omitting radiotherapy for patients aged 65 or older with T1N0M0 stage, ER+ and HER2-breast carcinoma after BCS. 相似文献