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61.
62.
B.B. Damian T.C.S. Bonetti D.D.G. Horovitz 《Brazilian journal of medical and biological research》2015,48(1):25-33
Preimplantation genetic diagnosis (PGD) was originally developed to diagnose
embryo-related genetic abnormalities for couples who present a high risk of a
specific inherited disorder. Because this technology involves embryo selection, the
medical, bioethical, and legal implications of the technique have been debated,
particularly when it is used to select features that are not related to serious
diseases. Although several initiatives have attempted to achieve regulatory
harmonization, the diversity of healthcare services available and the presence of
cultural differences have hampered attempts to achieve this goal. Thus, in different
countries, the provision of PGD and regulatory frameworks reflect the perceptions of
scientific groups, legislators, and society regarding this technology. In Brazil,
several texts have been analyzed by the National Congress to regulate the use of
assisted reproduction technologies. Legislative debates, however, are not conclusive,
and limited information has been published on how PGD is specifically regulated. The
country requires the development of new regulatory standards to ensure adequate
access to this technology and to guarantee its safe practice. This study examined
official documents published on PGD regulation in Brazil and demonstrated how little
direct oversight of PGD currently exists. It provides relevant information to
encourage reflection on a particular regulation model in a Brazilian context, and
should serve as part of the basis to enable further reform of the clinical practice
of PGD in the country. 相似文献
63.
Zaida Araujo Sietze Brandes Elena Pinelli María A. Bochichio Andrea Palacios Albina Wide Bruno Rivas-Santiago Juan Carlos Jiménez 《Revista do Instituto de Medicina Tropical de S?o Paulo》2015,57(1):47-55
The present study aimed at measuring seropositivities for infection by
Ascaris suum and Toxocara canis using the
excretory/secretory (E/S) antigens from Ascaris suum (AES) and
Toxocara canis (TES) within an indigenous population. In
addition, quantification of cytokine expressions in peripheral blood cells was
determined. A total of 50 Warao indigenous were included; of which 43 were adults and
seven children. In adults, 44.1% were seropositive for both parasites; whereas
children had only seropositivity to one or the other helminth. For ascariosis, the
percentage of AES seropositivity in adults and children was high; 23.3% and 57.1%,
respectively. While that for toxocariosis, the percentage of TES seropositivity in
adults and children was low; 9.3% and 14.3%, respectively. The percentage of
seronegativity was comparable for AES and TES antigens in adults (27.9%) and children
(28.6%). When positive sera were analyzed by Western blotting technique using AES
antigens; three bands of 97.2, 193.6 and 200.2 kDas were mostly recognized. When the
TES antigens were used, nine major bands were mostly identified; 47.4, 52.2, 84.9,
98.2, 119.1, 131.3, 175.6, 184.4 and 193.6 kDas. Stool examinations showed that
Blastocystis hominis, Hymenolepis nana and
Entamoeba coli were the most commonly observed intestinal
parasites. Quantification of cytokines IFN-γ, IL-2, IL-6, TGF-β, TNF-α, IL-10 and
IL-4 expressions showed that there was only a significant increased expression of
IL-4 in indigenous with TES seropositivity (p < 0.002).
Ascaris and Toxocara seropositivity was
prevalent among Warao indigenous. 相似文献
64.
Kun‐Yong Sung Seungkoo Lee Yeonjin Jeong Sang‐Yeul Lee 《The Australasian journal of dermatology》2021,62(1):60-63
A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid‐filled sac. 相似文献
65.
目的探讨前路椎体次全切除术和后路椎管扩大椎板成形术对脊髓型颈椎病(CSM)合并椎管狭窄症患者术后疗效及颈椎矢状位参数的影响。方法回顾性分析2010年3月—2015年8月收治的147例CSM合并椎管狭窄症患者的临床资料,其中80例行前路椎体次全切除术治疗(A组),67例行后路椎管扩大椎板成形术治疗(B组)。比较2种手术方法治疗前后日本骨科学会(JOA)评分、Cobb角及矢状位垂直距离(SVA)。将2组患者根据T_1倾斜角分别分为高T_1倾斜角(≥25°)亚组和低T_1倾斜角( 25°)亚组,对不同亚组之间的疗效及手术安全性进行比较。结果 2组术后JOA评分和Cobb角均高于术前,差异有统计学意义(P 0.05)。A组术后SVA低于术前,差异有统计学意义(P 0.05),B组术后SVA与术前相比差异无统计学意义(P 0.05)。A组术后JOA评分和Cobb角均高于B组,SVA低于B组,差异均有统计学意义(P 0.05)。A组中,高T_1倾斜角亚组和低T_1倾斜角亚组JOA评分改善效果和后凸畸形发生率比较差异无统计学意义(P 0.05);B组中,低T_1倾斜角亚组JOA评分改善效果和后凸畸形发生率优于高T_1倾斜角亚组,差异均有统计学意义(P 0.05)。结论相较于后路椎管扩大椎板成形术,前路椎体次全切除术治疗CSM合并椎管狭窄症临床疗效更佳,且有助于改善颈椎矢状位平衡;在高T_1倾斜角水平下,应尽可能选择前路椎体次全切除术。 相似文献
66.
《Diagnostic and interventional imaging》2020,101(12):821-830
PurposeTo compare morphological imaging features and CT texture histogram parameters between grade 3 pancreatic neuroendocrine tumors (G3-NET) and neuroendocrine carcinomas (NEC).Materials and methodsPatients with pathologically proven G3-NET and NEC, according to the 2017 World Health Organization classification who had CT and MRI examinations between 2006-2017 were retrospectively included. CT and MRI examinations were reviewed by two radiologists in consensus and analyzed with respect to tumor size, enhancement patterns, hemorrhagic content, liver metastases and lymphadenopathies. Texture histogram analysis of tumors was performed on arterial and portal phase CT images. images. Morphological imaging features and CT texture histogram parameters of G3-NETs and NECs were compared.ResultsThirty-seven patients (21 men, 16 women; mean age, 56 ± 13 [SD] years [range: 28-82 years]) with 37 tumors (mean diameter, 60 ± 46 [SD] mm) were included (CT available for all, MRI for 16/37, 43%). Twenty-three patients (23/37; 62%) had NEC and 14 patients (14/37; 38%) had G3-NET. NECs were larger than G3-NETs (mean, 70 ± 51 [SD] mm [range: 18 - 196 mm] vs. 42 ± 24 [SD] mm [range: 8 - 94 mm], respectively; P = 0.039), with more tumor necrosis (75% vs. 33%, respectively; P = 0.030) and lower attenuation on precontrast (30 ± 4 [SD] HU [range: 25-39 HU] vs. 37 ± 6 [SD] [range: 25-45 HU], respectively; P = 0.002) and on portal venous phase CT images (75 ± 18 [SD] HU [range: 43 - 108 HU] vs. 92 ± 19 [SD] HU [range: 46 - 117 HU], respectively; P = 0.014). Hemorrhagic content on MRI was only observed in NEC (P = 0.007). The mean ADC value was lower in NEC ([1.1 ± 0.1 (SD)] × 10−3 mm2/s [range: (0.91 - 1.3) × 10−3 mm2/s] vs. [1.4 ± 0.2 (SD)] × 10−3 mm2/s [range: (1.1 - 1.6) × 10−3 mm2/s]; P = 0.005). CT histogram analysis showed that NEC were more heterogeneous on portal venous phase images (Entropy-0: 4.7 ± 0.2 [SD] [range: 4.2-5.1] vs. 4.5 ± 0.4 [SD] [range: 3.7-4.9]; P = 0.023).ConclusionPancreatic NECs are larger, more frequently hypoattenuating and more heterogeneous with hemorrhagic content than G3-NET on CT and MRI. 相似文献
67.
《Diagnostic and interventional imaging》2020,101(9):555-564
PurposeThe purpose of this study was to determine whether computed tomography (CT)-based machine learning of radiomics features could help distinguish autoimmune pancreatitis (AIP) from pancreatic ductal adenocarcinoma (PDAC).Materials and MethodsEighty-nine patients with AIP (65 men, 24 women; mean age, 59.7 ± 13.9 [SD] years; range: 21–83 years) and 93 patients with PDAC (68 men, 25 women; mean age, 60.1 ± 12.3 [SD] years; range: 36–86 years) were retrospectively included. All patients had dedicated dual-phase pancreatic protocol CT between 2004 and 2018. Thin-slice images (0.75/0.5 mm thickness/increment) were compared with thick-slices images (3 or 5 mm thickness/increment). Pancreatic regions involved by PDAC or AIP (areas of enlargement, altered enhancement, effacement of pancreatic duct) as well as uninvolved parenchyma were segmented as three-dimensional volumes. Four hundred and thirty-one radiomics features were extracted and a random forest was used to distinguish AIP from PDAC. CT data of 60 AIP and 60 PDAC patients were used for training and those of 29 AIP and 33 PDAC independent patients were used for testing.ResultsThe pancreas was diffusely involved in 37 (37/89; 41.6%) patients with AIP and not diffusely in 52 (52/89; 58.4%) patients. Using machine learning, 95.2% (59/62; 95% confidence interval [CI]: 89.8–100%), 83.9% (52:67; 95% CI: 74.7–93.0%) and 77.4% (48/62; 95% CI: 67.0–87.8%) of the 62 test patients were correctly classified as either having PDAC or AIP with thin-slice venous phase, thin-slice arterial phase, and thick-slice venous phase CT, respectively. Three of the 29 patients with AIP (3/29; 10.3%) were incorrectly classified as having PDAC but all 33 patients with PDAC (33/33; 100%) were correctly classified with thin-slice venous phase with 89.7% sensitivity (26/29; 95% CI: 78.6–100%) and 100% specificity (33/33; 95% CI: 93–100%) for the diagnosis of AIP, 95.2% accuracy (59/62; 95% CI: 89.8–100%) and area under the curve of 0.975 (95% CI: 0.936–1.0).ConclusionsRadiomic features help differentiate AIP from PDAC with an overall accuracy of 95.2%. 相似文献
68.
目的 检测分析被诊断为X连锁视网膜色素变性(XLRP)的三个中国家系内的基因突变。设计 基因研究。研究对象 三个中国XLRP家系共27位受试者(其中18人为男性)。方法 由同一医生收集家系成员的详细临床资料并进行眼部检查,采集三个家系的先证者及有条件采血者的外周静脉血,提取基因组DNA。应用PCR技术扩增RPGR和RP2基因的全部外显子和内含子交界区序列,包括RPGR基因15号外显子开放阅读框,产物直接测序进行突变分析。主要指标 临床特征及基因测序结果。结果 基因筛查证实了两个RPGR基因的新型无义突变(c.1541C>G;p.S514X 和 c.2833G>T;p.E945X) 及一个错义突变(c.607G>C;p.A203P)。基因型-表型的相关性分析表明家系3患者在接近ORF15下游位置存在突变,这种突变导致视锥细胞功能的早期丧失。ORF15无义突变的女性携带者临床表型重,呈现出部分显性遗传的特点。结论 本研究证实了三种RPGR基因的新型突变,这一结果扩展了RPGR的突变谱及表型谱。 相似文献
69.
Claire Letournel François Babinet Bénédicte Allard Vincent Montecot 《Néphrologie & thérapeutique》2019,15(1):51-58