molecular evaluation
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Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 420
Author(s):  
Paola Vignali ◽  
Agnese Proietti ◽  
Elisabetta Macerola ◽  
Anello Marcello Poma ◽  
Liborio Torregrossa ◽  
...  

Background: Non-invasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTPs) were introduced in thyroid pathology in 2016. NIFTPs are a group of follicular neoplasm with an indolent behaviour. In this study, we gathered a large retrospective cohort of NIFTPs and compared those presenting as solitary lesions and NIFTPs found in multifocal setting. Methods: A retrospective search of NIFTPs was performed, and the clinico-pathological features were recorded. For a subgroup of patients, pre-surgical ultrasound (US) evaluation, cytological diagnosis, and molecular analysis were available. Results: We collected 451 NIFTPs; 254 (56.3%) were truly solitary tumours, while 197 coexisted with one or more NIFTP/cancer. Contrasting unifocal and multifocal settings, NIFTPs size was the only significantly different parameter. Preoperatively, NIFTP nodules mostly showed low-risk US characteristics, indeterminate cytology and a RAS-like molecular profile. Conclusion: NIFTPs often coexist with collateral thyroid tumours. However, no clinical-pathological differences can be observed between solitary and “multifocal” NIFTPs. Despite the well-established clinical indolence of NIFTP, a careful monitoring of the contralateral lobe should not be excluded.


2022 ◽  
Author(s):  
Anas E. Almousawi ◽  
Abdullah O. Alhatami ◽  
Noor A. Neama ◽  
Aiman Mohammed Baqir

2021 ◽  
Vol 12 (3) ◽  
pp. 710-720
Author(s):  
Seyda Cengiz ◽  
M. Cemal Adıgüzel ◽  
Gökçen Dinç

In this study, it was aimed to determine of P. multocida, M. haemolytica, H. somni and M. bovis in macroscopically healthy cattle lungs by PCR. The study was carried out on 82 macroscopically healthy cattle lung. DNA extraction was performed to the lung samples. PCR was then performed using all specific primers. By molecular evaluation, positive results  were achieved for  P. multocida,  M. haemolytica,  H. somni and  M. bovis in 4 (4.8 %), 4 (4.8 %), 6 (7.3 %) and 3 (3.6 %) of the samples, respectively. Mix infections were detected in five samples. Of the samples, two were positive for both P. multocida and M. haemolytica, two were positive for both M. haemolytica and H. somni and one was positive for both P. multocida and H. somni. However, a positive sample, which carried all of pathogens, was not detected. In conclusion, P. multocida, M. haemolytica, H. somni and M. bovis are the important opportunistic pathogens of respiratory tract in cattle and these pathogens have a major role during infections. But multifactorial nature of bovine respiratory disease and immune system affected the formation of the disease. Hence, firstly cattle’s immunity should be strengthened and other conditions should be kept under control.


Author(s):  
S. B. Shinde ◽  
R. M. Naik ◽  
S. G. Mohite ◽  
U. S. Dalvi ◽  
V. P. Chimote ◽  
...  

Medicine ◽  
2021 ◽  
Vol 100 (41) ◽  
pp. e27458
Author(s):  
Alparslan Merdin ◽  
Mehmet Sinan Dal ◽  
Merih Kizil Çakar ◽  
Taha Bahsi ◽  
Neslihan Düzkale ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1552
Author(s):  
Khalda Sayed Amr ◽  
Hala T. El-Bassyouni ◽  
Sawsan Abdel Hady ◽  
Mostafa I. Mostafa ◽  
Mennat I. Mehrez ◽  
...  

Pycnodysostosis is a rare autosomal recessive disorder with characteristic diagnostic manifestations. This study aims to phenotype and provide molecular characterization of Egyptian patients, with emphasis on identifying unusual phenotypes and raising awareness about pycnodysostosis with different presentations to avoid a mis- or under-diagnosis and consequent mismanagement. We report on 22 Egyptian pycnodysostosis patients, including 9 new participants, all descending from consanguineous families and their ages ranging from 6 to 15 years. In addition, prenatal diagnosis was performed in one family with affected siblings. They all presented with short stature, except for one patient who presented with pancytopenia as her primary complaint. Moreover, 41.2% of patients had sleep apnea, 14% presented with craniosynostosis, and 44.4% had failure of tooth development. Molecular analysis via direct exome sequencing of the cathepsin K gene revealed three novel mutations ((NM_000396.3) c.761_763delCCT, c.864_865delAA, and c.509G>T) as well as two previously reported mutations among nine new cases. The following is our conclusion: This study expands the molecular spectrum of pycnodysostosis by identifying three novel mutations and adds to the clinical and orodental aspects of the disease. The link between the CTSK gene mutations and the failure of tooth development has not been established, and further studies could help to improve our understanding of the molecular pathology.


Author(s):  
Shaimaa R. M. Khalil ◽  
Ahmed Ashoub ◽  
Basita A. Hussein ◽  
Wolfgang Brüggemann ◽  
Ebtissam H. A. Hussein ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Fatemeh Farshadpour ◽  
Reza Taherkhani ◽  
Farkhondeh Bakhtiari

Objective. Knowledge regarding the prevalence and risk factors of hepatitis C virus (HCV) infection among pregnant women can give clue to health care providers regarding the appropriate management of HCV infection. Therefore, this study was conducted to determine the prevalence, genotypic pattern, and risk factors of HCV infection among pregnant women in the northern shores of the Persian Gulf, south of Iran. Methods. From January 2018 to June 2019, serum samples were obtained from 1425 pregnant women, ages ranging from 14 to 46 years ( 28.1 ± 5.99 ). Serum samples were tested for detection of anti-HCV antibodies using an enzyme-linked immunosorbent assay (ELISA) (HCV Ab ELISA kit, Dia.Pro, Milan, Italy). Following the extraction of nucleic acid, the molecular evaluation of HCV infection was performed by seminested reverse transcriptase-polymerase chain reaction assay (RT-PCR), targeting the 5 ′ untranslated region (5 ′ UTR) and core of HCV genome and sequencing. Results. Of the 1425 pregnant women, 19 women (1.33%, 95% CI: 0.85%–2.07%) were positive for anti-HCV antibodies. The majority of HCV-seropositive women were in the third trimester of pregnancy, educated, and had a history of blood transfusion, abortion, surgery, or dentistry. Moreover, Arab and Fars pregnant women and those aged >39 years had the highest rate of HCV seroprevalence. Nevertheless, none of these variables were significantly associated with HCV seropositivity. In contrast, HCV seropositivity was associated with place of residency, so that residents of Khormuj city had significantly higher HCV seroprevalence compared to the residents of other cities (OR: 7.05; 95% CI: 1.75–28.39; P = 0.006 ). According to the molecular evaluation, 9 of the 19 HCV-seropositive pregnant women (47.37%) had HCV viremia with genotype 3a. Conclusion. This study reports the HCV prevalence of 1.33% for anti-HCV antibodies and 0.63% for HCV RNA among pregnant women in the south of Iran. Considering the asymptomatic nature of chronic HCV infection and the fact that vertical transmission is possible in women with detectable viremia, therefore, screening of women before pregnancy is recommended to reduce the risk of HCV infection and its complications during pregnancy.


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