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Cem Yener Cenk Sayın Cihan İnan Hakan Gürkan Emine İkbal Atlı Engin Atlı Esra Altan Sinan Ateş Füsun Varol 《Taiwanese journal of obstetrics & gynecology》2021,60(2):350-354
ObjectiveThe objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature.Case reportThe mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation.ConclusionThis study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development. 相似文献
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Kılavuz Sebile Basaranoglu Murat Epcacan Serdar Bako Derya Ozer Arife Donmez Yasemin Nuran Ceylan Emine Ipek Tukun Ajlan Ceylaner Serdar Geylani Hadi Mungan Halise Neslihan Onenli 《Metabolic brain disease》2022,37(4):1283-1287
Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died... 相似文献
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Pangal Dhiraj J. Wishart Danielle Shiroishi Mark S. Ruzevick Jacob Carmichael John D. Zada Gabriel 《Pituitary》2022,25(3):480-485
Pituitary - Patterns of extension of pituitary adenomas (PA) may vary according to PA subtype. Understanding extrasellar extension patterns in growth hormone PAs (GHPA) vis-a-vis nonfunctional PAs... 相似文献
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The oral administration route is considered to be the most widely used route because of its convenience of administration and manufacturing. Dosage forms, like orally disintegrating tablets (ODTs), mini tablets, and orally disintegrating mini tablets (ODMTs), are recognized as promising for use in pediatric patients. ODTs are known to be suitable drug delivery systems, especially for pediatric patients, because of their rapid disintegration properties, use without water, and no swallowing problems. In addition, in recent years, a new formulation approach has been developed. ODMTs, are the newest drug delivery systems. They combine the advantageous properties of ODTs and the small size of mini tablets, aimed for pediatric use. These tablets, which can be formulated as 2–4?mm in diameter, are known as drug delivery systems that have children acceptability age as low as 6-months old. The fact that the ODTs and the ODMTs can be formulated with acceptable flavors for children further increases the importance of these carrier systems in the treatment. The objective of this article is to highlight the development of ODTs and mini-ODTs, their significance, ideal characteristics, various techniques, and aspects related to design and formulation, marketed preparations, and future perspectives, especially for the pediatric patients. 相似文献
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Osman Nuri Dilek Emine Özlem Gür Turan Acar Serpil Aydoğmuş 《Acta chirurgica Belgica》2019,119(4):243-247
Introduction: Endometrial cancer is the fourth most common female cancer and also distant metastases to the chest wall associated with these tumors are seen less common. Surgical treatment options for metastases of endometrial cancer are limited.Case: A 57-year-old patient who underwent total abdominal hysterectomy?+?bilateral salpingo oophorectomy and received adjuvant chemotherapy for endometrioid-type adenocarcinoma of the endometrium and tuba is presented. The patient initially presented with pleural effusion 8 years ago and the tumor was detected while during etiologic screening. The patient had no problems after adjuvant chemotherapy and had been living in another city when she presented with a mass on the chest wall measuring 20?×?15?×?12?cm 8 years after the initial diagnosis and distant organ metastasis due to the first surgery was detected. The mass was first thought to be a sarcoma and the tru-cut biopsy revealed a metastatic lesion that was immunohistochemically similar to the first surgical specimen. The mass was resected with a wide radical excision and ‘no touch’ technique. The patient was then discharged with no postoperative complications.Conclusion: Here in, a case with a distant organ metastasis due to an endometrioid-type adenocarcinoma is presented accompanied by literature data. 相似文献
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