A retrospective analysis of 8 005 cases of prenatal genetic diagnosis of thalassemia using PCR-flow fluorescence hybridization / 中华检验医学杂志

Objective:To evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology in prenatal genetic diagnosis of thalassemia.Methods:8 005 cases of prenatal genetic diagnosis of thalassemia in Guangdong Women and Children Hospital from September 2017 to December 2020 were retrospectively analyzed. All samples were diagnosed by traditional genetic methods include multiple Gap-PCR, PCR-RDB, MLPA and Sanger sequencing. Meanwhile, PCR-flow Fluorescence Hybridization technology was used as a verification platform for detecting common mutation sites of thalassemia. The results were analyzed to evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology compared with traditional methods in prenatal genetic diagnosis of thalassemia.Results:By traditional methods, 1 939 cases (24.22%, 1 939/8 005) were normal and 6 066 cases (75.78%, 6 066/8 005) were diagnosed as thalassemia, including 4 513 cases of α-thalassemia, 1 475 cases of β-thalassemia, and 78 cases of αβ-thalassemia. By PCR-flow Fluorescence Hybridization technology, 7 845 samples were successfully diagnosed after initial interpretation by software. Compared with traditional methods, all the sensitivity, specificity and accuracy were 100%. The other 160 samples which failed in the initial interpretation can be successfully interpreted after review or manual interpretation.Conclusion:There were no differences between the two methods on the detecting of common mutation sites of thalassemia.

Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.</p><p><b>METHODS</b>Whole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.</p><p><b>RESULTS</b>Hb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.</p><p><b>CONCLUSION</b>Abnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.</p>

Soft tissue chondrosarcoma occurred in the left parotid region: a case report / 华西口腔医学杂志

Chondrosarcoma is extremely rare in maxillofacial soft tissue. A case diagnosed as well-differentiated chon- drosarcoma in the left parotid region was reported. The clinic pathological features, diagnosis, treatment, and prognosis were discussed with the literature review.

Diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia / 实用医学杂志

Objective To study the diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia. Methods Between January 2012 and December 2013, 14032 core blood samples which were from different 21 Women and Children Hospitals in Guangdong were performed for the neonatal screening with hemoglobin electrophoresis. The positive samples of hemoglobin electrophoresis were recalled for genetic testing. Results Out of 1445 (11.07%) positive samples of hemoglobin electrophoresis , 1075 (54.08%) cases were suspected for α-thalassemia, 478 (3.41%) cases were suspected for β-thalassemia, 127 (0.91%) cases were suspected for abnormal hemoglobin. With the genetic testing, 967 cases were diagnosed as α-thalassemia, 404 cases were diagnosed asβ-thalassemia. The coincidence rate ofα-thalassemia andβ-thalassemia were 89.95%and 82.96%, respectively. Besides, 124 cases were diagnosed as abnormal hemoglobin, including 38 cases of Hb E, 28 cases of Hb Q, 21 cases of Hb D, 19 cases of Hb New York, 13 cases of Hb J, and 5 cases of Hb J. Conclusion Hemoglobin electrophoresis was definitely helpful in the neonatal cord blood screening for thalassemia and abnormal hemoglobin.

Tongue osteocartilaginous choristoma: a case report / 华西口腔医学杂志

Tongue osteocartilaginous choristoma is the disease that there are well-developed bone and cartilage in the tongue. This article reported a case of tongue osteocartilaginous choristoma in the oral-cavity,which is rare.

Ossifying fibromyxoid tumor in the mandible: a case report / 华西口腔医学杂志

Ossifying fibromyxoid tumor is an uncommon neoplasm with uncertain histogenesis. This tumor is usually characterized by a small, painless mass in the subcutaneous tissue or limb muscles. In this case, an ossifying fibromyxoid tumor of the mandible was reported, and relevant literature was reviewed.

Both of adenolymphoma and pleomorphic adenoma occurred in unilateral parotid gland: a case report / 华西口腔医学杂志

A case diagnosed as adenolymphoma and pleomorphic adenoma in unilateral parotid gland was reported. The clinic pathological features, possible mechanism, diagnosis and treatment were discussed based on previously reports in the literature.