ĐÁNH GIÁ SỰ SAI LỆCH KẾT QUẢ XÉT NGHIỆM DOUBLE TEST VÀ TRIPLE TEST TRONG CÁC ĐIỀU KIỆN BẢO QUẢN MẪU KHÁC NHAU

Mục tiêu nghiên cứu: xác định tỷ lệ nguy cơ hóa sinh thay đổi trong xét nghiệm Double test ở các điều kiện bảo quản mẫu khác nhau thông qua nồng độ các các dấu ấn hóa sinh free beta-hCG, PAPP-A. Đánh giá sự thay đổi nồng độ của AFP, beta-hCG và uE3 trong xét nghiệm Triple test ở các thời gian lưu mẫu khác nhau. Đối tượng và phương pháp nghiên cứu: đối tượng gồm 15 mẫu huyết thanh của 15 thai phụ mang thai từ 11 tuần đến 13 tuần 6 ngày. Xác định nồng độ free beta-hCG và PAPP-A ở các điều kiện: tách huyết thanh và định lượng trong 12 giờ; bảo quản 2-8°C trong 96 và 120 giờ (tách huyết thanh và không tách huyết thanh). Kỹ thuật miễn dịch định lượng trên hệ thống Immulite 2000 và 1000, phần mềm tính nguy cơ Prisca. Nghiên cứu mô tả, cắt ngang, phân tích so sánh; Xác định giá trị trung vị, so sánh nồng độ AFP, Beta-hCG và uE3 từ 818 kết quả triple test của phụ nữ mang thai từ 15 đến 21 tuần 6 ngày với thời gian lưu mẫu từ 24 giờ đến 96 giờ. Kỹ thuật miễn dịch định lượng trên hệ thống Immulite 2000, phần mềm tính nguy cơ Prisca. Phân tích số liệu trên phần mềm SPSS. Nơi thực hiện Đại Học Y Dược Thành Phố Hồ Chí Minh. Kết quả: Double test: so sánh với mẫu bảo quản 2-7°C với mẫu bảo quản 12 giờ ở nhiệt độ phòng thì kết quả là: Sau 96 giờ: free beta-hCG và PAPP-A không có sự thay đổi giá trị trung vị nồng độ, nguy cơ hóa sinh giảm 10% ở mẫu tách và không tách huyết thanh. Sau 120 giờ: trung vị nồng độ PAPP-A tuần thai 11 tăng 16,1 % (mẫu tách huyết thanh); tăng 3,5% (không tách huyết thanh ); Trung vị nồng độ Free beta-hCG không thay đổi đối với tất cả tuần thai. Nguy cơ hóa sinh lần lượt giảm 15% ở mẫu tách huyết thanh và 11% ở mẫu không tách huyết thanh. Triple test: nồng độ AFP giảm với các mẫu lưu trữ 48 giờ (21,4%), giảm ở 72 giờ (23%) và tăng khi lưu trữ 96 giờ (31.9%). Nồng độ Beta-hCG tăng dần theo thời gian lưu trữ mẫu 48 giờ (38%), 72 giờ (37,2%), 96 giờ (47,9%). Nồng độ uE3 tăng trong mẫu lưu 48 giờ (41,9%), không thay đổi ở 72 giờ và 96 giờ, tuy nhiên sự thay đổi chỉ xảy ra ở một số tuần thai. Kết luận: mẫu thử được bảo quản ở 2-8°C trong 96 giờ không làm thay đổi giá trị nồng độ free beta-hCG, PAPP-A nhưng làm giảm 10% giá trị nguy cơ hóa sinh. Khi bảo quản mẫu 120 giờ ở 2-8°C nồng độ free beta-hCG không thay đổi, trung vị nồng độ PAPP-A tăng ở tuần thai thứ 11 cao nhất là 16,1% và nguy cơ sinh hóa giảm khoảng 15%. Thời gian lưu mẫu 48 giờ dẫn đến nồng AFP giảm và UE3 tăng. Lưu mẫu 72 giờ và 96 giờ làm tăng nồng độ AFP. Nồng độ Beta-hCG tăng dần theo thời gian lưu trữ mẫu 48,72,96 giờ.

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children’s Hospital in China

Background Fabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, methods to improve effective screening and management of the suspects are needed. This study aims to explore how it can be done effectively from a multidisciplinary perspective for children with FD at a tertiary children’s hospital in China. Methods A multidisciplinary team (MDT) of pediatric FD experts was launched at Children’s Hospital of Fudan University. Children with high-risk characteristics were referred by the MDT screening team using the dried blood spot (DBS) triple-test (α-galactosidase A, globotriaosylsphingosine, GLA gene). For newborns who were undergoing genetic testing in the hospital, the GLA gene was listed as a routine analysis gene. Evaluation, family screening, and genetic counselling were implemented after screening by the MDT management team. Results Before the establishment of the MDT, no case was diagnosed with FD in the hospital. However, twelve months following the MDT program's implementation, thirty-five children with high-risk profiles were referred for screening by DBS triple-test, with a yield of diagnosis of 14.3% (5/35). These 5 diagnosed children were referred due to a high-risk profile of pain accompanied by dermatological angiokeratoma and hypohidrosis (n = 2), pain accompanied by abnormal liver function (n = 1), pain only (n = 1), and unexplained renal tubular dysfunction (n = 1). Two neonates were detected early with GLA mutations in the hospital, with a yield of detection of 0.14% (2/1420). Furthermore, another 3 children diagnosed with FD were referred from other hospitals. Family screening of these 10 diagnosed children indicated that 9 boys inherited it from their mothers and 1 girl inherited it from her father. Four of them started to receive enzyme replacement therapy. Conclusion Screening and management of children with FD is effective based on a defined screening protocol and a multidisciplinary approach. We should pay more attention to the high-risk profiles of pain, angiokeratoma, decreased sweating, and unexplained chronic kidney disease in children.

Genetic analysis of low-n traits in maize (Zea mays L) using triple test cross

Low-N maize variety is developed for its ability to tolerate low nitrogen soil environment. This experiment was conducted to study the genetic implication of Low-N maize variety for grain yield and related traits under low nitrogen soil conditions triple test cross analysis. Inbred lines used for the study were generated from twelve low nitrogen tolerance open pollinated maize varieties after six generations of selfing. Two inbred lines along with their F1 were used as testers for ten inbred lines in a triple test cross pattern to generate 30 crosses. The 30 crosses, their parents and the testers to State University, Ado-Ekiti during 2017 planting season. The experimental design was a Randomized Complete Block Design (RCBD). Data were collected on plant height, ear height, days to 50% anthesis, days to 50% silking, incidence of curvularia leaf spot, blight, plant aspect, ear aspect, ear rot, stay green, cob per plant, ear weight, grain moisture content and grain yield. All data were subjected to analysis of variance and complete genetic estimates. Additive and dominants were significant (P < 0.05) for all traits; however, epitasis estimates were not significant for all the traits tested. The degree of dominance component indicated partial dominance for all the traits. Correlation coefficients for days to 50% anthesis and 50% silking, plant height, ear height, number of cobs per plant and grain yield were positive and significant (P < 0.05). Since both additive and dominance gene actions were important for low-N traits, the use of reciprocal recurrent selection procedure can be adopted in incorporating the trait into elite maize varieties.

A study on diagnostic accuracy of modified triple assessment in palpable breast lumps

Background: Breast (mammary gland) is a distinguishing feature of class Mammalia. Patients commonly present, complaining of a lump in the breast, pain, and nipple discharge. Although the most common cause of symptoms is benign breast diseases. But as the life expectancy is increasing incidence of carcinoma breast is also increasing. 1.To assess the individual component diagnostic accuracy of MTT.Methods: This was a cross-sectional study involving 50 female patients with palpable breast lumps attending the Surgical Out-Patient of the Department of General Surgery, Government Royapettah Hospital, Kilpauk medical college, Chennai between June 2020 and May 2021 over 12 months, who underwent clinical breast examination (CBE), ultrasonography (USG), and fine-needle aspiration cytology (FNAC). Results: In the study population, the breast tumor is common on the left side account for about overall 53%age of patients. The bilateral tumors are the least common. Fibroadenoma is the most common benign tumor. In our study also similar results were obtained. The next common benign tumor among the study group is a fibrocystic disease of the breast. Analysis of the above results shows that though FNAC has a sensitivity of 90%, it has a positive predictive value of 100%. The study shows that the combined results of the Modified Triple Test are comparable to the histopathological diagnosis of the biopsy specimen. Conclusions: Our study includes assessment of combined diagnostic accuracy of Modified Triple Test in women of more than 30 years of age with a palpable breast lump.

Detection of Epistasis and Genetic Parameters of Some Quantitative Traits Through Triple Test Cross Analysis in Chickpea (Cicer Arietinum L.)

Triple test cross analysis was carried out to detect the epistasis of thirteen yield and yield components in five chickpea (Cicer arietinum L.) crosses. Total epistatic effect was found to be non-significant for all the studied traits. Partitioning of total epistasis indicated the involvement of ‘i’ type (additive × additive) epistasis for DFF, PHFF, PWH, NPd/P, PdW/P, NS/P and SW/P in cross-1; NPBFF and NSBFF in cross-3 and for PHFF, DMF, PHMF and NSBMF in cross-5. The magnitude of additive component (D) was higher than that of the dominance component (H). Partial degree of dominance (√H/D) was observed for most of the traits. Both broad (h2b) and narrow (h2n) sense heritability were found to be moderately high. Positive and significant correlation between sums and differences indicated the direction of dominance towards decreasing parents and vice-versa. Bangladesh J. Bot. 50(2): 351-358, 2021 (June)

Revelation of Epistasis through Triple Test Cross (TTC) Analysis in Rice (Oryza sativa L.)

Background: An investigation was performed to identify epistasis, additive, dominance components of genetic variation and yield and yield variability attributing characteristics by triple test cross testing involving three testers (P1, P2 and F1) and ten rice lines.Methods: The study materials consisted of F1 seeds of three crosses, involving six parents namely, ASD16, ADT47, ASD18, CO51, TKM9 and MTU 7029. They are evaluated in randomized complete block design with three replications. Observations were reported for seven traits, namely plant height, number of tillers per plant, number of productive tillers per plant, length of panicle, number of grains per panicle, weight of 1000 grains and yield of grain per plant on five randomly selected plants per replication.Result: The segregating population of three crosses exhibited wide range of variability for most of the traits. The difference between GCV and PCV was low for most of the characters indicated less influence of environment. Among the three crosses ASD18 x CO15 recorded high percent of heritability and genetic advance for grain yield per plant. The estimate of total epistasis revealed that i type of epistasis (additive x additive) was highly significant for number of tillers per plant, number of productive tillers per plant, panicle length and 1000 grain weight. The effect of the additive (D) variance was very important for all the traits except the number of grains per panicle. Across all traits, the degree of dominance (H / D)1/ 2 was less than unity ( less than 1) suggesting, partial of dominance. Since, the pre dominance component of epistasis in autogamous crop is additive x additive (i type), it was suggested that the selection may be post ponded to later generation until all the non-additive components of variance has been mitigated to additive components.

Triple diagnostic test in the evaluation of thyroid nodules

Background: Thyroid nodules are a common endocrine disease whose prevalence in India is approximately 12.2%. Although most patients with suspected nodules have benign conditions, the overestimation of malignancy leads to the performance of unnecessary procedures. No clinical, radiological and cytological parameters has singularly shown significant impact on clinical practice and post-operative histopathological examination remains the gold standard in the diagnosis of malignancy.Methods: 55 patients with thyroid nodules were evaluated and the Clinical assessment findings were recorded by McGill thyroid nodule score, ultrasonography findings using TIRADS and FNAC findings by the Bethesda system. The triple test was then used to classify them and these results were compared with the HPE of the post-operative specimen.Results: The sensitivity and specificity of TIRADS, FNAC were higher as compared to clinical score; clinical score had lowest sensitivity of 72.73%. The sensitivity, specificity, PPV, NPV and accuracy of triple test was 100%. Triple test had higher sensitivity, specificity and accuracy in differentiating thyroid nodules as compared to any of the three parameters used individually.Conclusions: Triple test has higher accuracy, sensitivity and specificity in determining the nature of thyroid nodule than each of the parameters used individually and it is especially useful in follicular lesions. On the basis of the results of this study, we conclude that the triple test can reliably be used to differentiate benign and malignant nodules preoperatively.