血清学与分子生物学技术鉴定产生抗-Dib抗体的Di(a+b-)血型1例

目的通过血清学实验和分子生物学技术鉴定出1例产生抗-Dib抗体的Di(a+b-)稀有血型。方法采用血清学方法对患者进行血型鉴定、直抗试验和不规则抗体筛查及鉴定试验,采用DNA测序方法鉴定患者的Diego血型基因。结果患者体内存在抗高频抗原抗体,分子水平确定其为Di(a+b-)稀有血型,因此其抗体为抗-Dib抗体。结论分子生物学鉴定血型基因有助于抗高频抗原抗体的鉴定。     

1例B(A)血型鉴定及家系分析

ABO血型系统是人类最重要的血型系统,除了A型、B型、O型、AB型这4种常见血型外,还有一些罕见的抗原较弱的亚型,比如B(A)血型[1]。B(A)血型在人群中的出现频率约为1/50万,该人群血清中存在高度活性的B型糖基转移酶,同时也存在少量的A型糖基转移酶,因此,其红细胞上不仅存在B抗原,还存在很弱的A抗原[2]。B(A)血型被认为是遗传学上的B型,血清学检测结果多表现为AB型,严重影响血型鉴定的准确性和输血安全[3-4]。本文对1例B(A)血型正反定型不符的患者进一步行血清学及分子生物学检测,同时对其进行了家系调查分析,现报道如下。     

罕见的抗-Kp~a1例

<正>1病例简介患者,女,汉族,78岁。本院2010年3月诊断为脑胶质瘤术后复发,病程6个月有余,曾多次输血,未见有输血反应发生。患者血型为B型,Rh(D)阳性。2010年1月13日入本院,于2010年8月5日临床申请红细胞悬液2 U,输血前检查其不规则抗体筛查阳性,怀疑有ABO以外血型抗体。     

CisAB血型的血清学鉴定及分子遗传学研究——附1例报告

目的通过分子生物学方法鉴定1例罕见的CisAB血型,并调查其家系,以期探讨稀有血型CisAB的血清学特点,遗传学特性和输血策略。方法采用血型血清学方法筛查该家系3代共6例标本的血型,运用聚合酶链式反应序列特异性引物(PCR-SSP)法进行基因定型,采用ABO基因直接测序的方法作DNA序列的分析。结果血型血清学检测发现6名家系成员中,正反定型不相符3例:先证者表型为A_2B_x,其母亲为A_2B,其胎血为AB型;基因型分型结果分别为CisAB01/O01,CisAB01/B101,CisAB01/O01。DNA序列分析:CisAB01/O01第6外显子261缺失G,第7外显子467C>T、803G>C;CisAB01/B101第6外显子297A>G,第7外显子467C>T、796C>A、803G>C。结论对ABO血型血清学正反定型不符的标本,可以用家系调查和分子生物学方法进行辅助验证,基因测序更能准确确定患者的血型。     

1例肝内胆管结石手术患者抗-Fy^a的鉴定和备血策略分析

Duffy血型系统是一种重要的血型系统,该血型系统中包括6种抗原,其中Fy^a和Fy^b抗原的免疫原性不强,但其相应抗体可引起速发型或迟发型溶血性输血反应以及新生儿溶血病[1]。在中国人群中,Fy^a-b+属于稀有血型,因此,抗-Fy^a并不常见。笔者在上海市血液中心进修期间,在1例肝内胆管结石手术备血的患者血清中检出抗-Fy^a,现将鉴定过程和备血策略分析如下。     

罕见抗-M鉴别分析：附1例报道

<正>MNS血型系统是第2个被发现的血型系统,目前大约包括 50个抗原。抗-M是较常见的“天然抗体”,国内有研究报道,产前抗体筛查中抗-M被列为继Rh血型系统的第2位常见抗体,大多数抗-M只在低于37 ℃有反应,最适反应温度为4 ℃^[1]。常州市中心血站在献血者筛查中发现1个特殊案例,血浆中存在一种罕见的抗-M,影响ABO血型鉴定,但这种抗-M不与其自身M抗原阳性红细胞凝集。现报道如下。     

B(A)02亚型分子生物学鉴定1例

目的采用分子生物学方法进行疑难血型鉴定及其遗传发生机制分析,探究分子生物学在红细胞血型分型技术中的必要性和可行性。方法使用血清学和分子生物学方法,对1例二次献血时血型与首次记录不符且ABO正反定不符的献血者,进行血型鉴定。结果献血者血清学:与抗-A血清反应呈弱阳性(2+),与抗-B及抗-H血清反应均为强阳性(4+);与A1型红细胞呈弱阳性(2+),但与B和O型红细胞不反应;直接、间接抗球蛋白试验结果均为阴性、血清抗体筛查结果为阴性。献血者分子生物学:ABO基因第6、7外显子区存在9处变异,与A101等位基因进行比对,确定血型为B(A)02。结论分子生物学方法可以避免血清学疑难血型鉴定中的诸多影响因素,及时准确地鉴定B(A)亚型。     

携RHD-CE(2-9)-D基因并产生抗-D、抗-E抗体1例

RHD-CE(2-9)-D属融合基因[1,2],为RHD基因的一种弱表现形式,常规血清学试验常将其鉴定为RhD–.据文献报道,Rh血型系统D抗原抗原性强于E抗原[3-6],理论上机体接受D抗原和E抗原免疫性刺激后产生的抗体常规应该是抗-D强于抗-E.然而,我们临床工作中遇到了抗-E (1:512)强于抗-D(1:64)...     

B(A)血型鉴定及临床输血策略探讨——附1例B(A)02/O01血型报道

目的探讨降低B(A)亚型漏检率及其临床紧急输血流程。方法对1例急诊手术患者,采用血清学方法进行血型鉴定,根据鉴定结果初步确认为ABO亚型,后采用2种方法进行交叉配血。运用PCR(聚合酶链式反应)对该患者的ABO血型基因扩增并测序,明确基因型。结果该患者血型血清学结果显示正反定型不符,正定型为A弱B强,血清中存在较弱的抗-A1,H抗原较B细胞明显增强;术中输注B型洗涤红细胞4U、AB型血浆600mL,无输血不良反应。患者ABO基因测序结果与A101标准序列比对,符合(A)02/O01基因型。结论 B(A)血型的血清学特征不明显,血清学检测必须严格遵守标准化操作流程,降低漏检率。本研究对B(A)患者制定了紧急输血流程,保证临床用血。同时其明确鉴定需进一步结合分子生物学检测,ABO基因测序联合单克隆测序可以有效明确其分型,必要时可选择二代测序的方法。     

Rapid progression of hepatocellular carcinoma in a pregnant woman: A case report

Hepatocellular carcinoma (HCC) in pregnant women is rare; however, a recurrence of the disease is followed by rapid lesion progression during pregnancy. We experienced a case in which HCC recurred during pregnancy and rapidly worsened. After delivery at 33 weeks, she underwent chemotherapy and made a good progress.     

Thyroid storm in a pregnant woman with COVID-19 infection: A case report and review of literatures

BACKGROUNDThe severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has been found to be responsible for the recent global pandemic known as coronavirus disease 2019 (COVID-19). SARS-CoV-2 infections not only result in significant respiratory symptoms but also cause several extrapulmonary manifestations, such as thrombotic complications, myocardial dysfunction and arrhythmia, thyroid dysfunction, acute kidney injury, gastrointestinal symptoms, neurological symptoms, ocular symptoms, and dermatological complications. We present the first documented case of thyroid storm in a pregnant woman precipitated by SARS-CoV-2.CASE SUMMARYA 42-year-old multiparous woman at 35 + 2 wk of gestation visited the emergency room (ER) with altered mentation, seizures, tachycardia, and high fever. The patient showed no remarkable events in the prenatal examination, and the nasopharyngeal COVID-19 polymerase chain reaction (PCR) test was positive two days before the ER visit. The results of laboratory tests, such as liver function test, serum electrolytes, blood glucose, blood urea nitrogen, and creatinine, were all within the normal ranges. However, the thyroid function test showed hyperthyroidism, and the nasopharyngeal COVID-19 PCR test was positive, as expected. No specific findings were observed on the brain computed tomography, and there were no signs of lateralization on neurological examination. Fetal heartbeat and movement were good, and there were no significant uterine contractions. The initial impression was atypical eclampsia. However, the patient''s condition worsened, and a cesarean section was performed under general anesthesia; a healthy boy was delivered, and 12 h after delivery, the patient''s seizures disappeared and consciousness was restored. The patient was referred to an endocrinologist for hyperthyroidism, and a thyroid storm with Graves'' disease was diagnosed. Here, SARS-CoV-2 was believed to be the trigger for the thyroid storm, considering that the patient tested positive for COVID-19 two days before the seizures.CONCLUSIONIn pregnant women presenting with seizures or changes in consciousness, the possibility of a thyroid storm should be considered. There are various causes for a thyroid storm, but given the recent pandemic, it is necessary to bear in mind that the thyroid storm may be precipitated by COVID-19.     

妊娠期肝内胆汁淤积症血清25-(OH)D3水平与总胆汁酸、甘胆酸水平及母婴结局的相关性分析

目的 探讨妊娠期肝内胆汁淤积症(ICP)血清25-(OH)D3水平与总胆汁酸、甘胆酸水平及母婴结局的相关性.方法 回顾性选取2018年12月至2020年4月间在监利市人民医院确诊的孕晚期ICP孕妇90例作为ICP组,选择同期进行产检的孕晚期正常孕妇100例作为正常对照组.检测2组患者的血清25-(OH)D3水平,根据I...     

Adenosine deaminase (ADA) overproduction associated with congenital hemolytic anemia: case report and molecular analysis

We report the fourth case of adenosine deaminase (ADA) overproduction associated with hereditary nonspherocytic hemolytic anemia and the molecular analysis of this anomaly. The proband was a 10-year-old Japanese boy, who had an episode of erythroblastosis fetalis during the perinatal period. The red cell ADA activity showed a 110-fold increase and the red cell ATP level was about 64% of the comparably reticulocyte-rich controls, but the lymphocyte ADA activity was within the normal range. Western blotting of partially purified ADA from red cells revealed an increased amount of enzyme in the patient's red cells. No gene amplification or gene rearrangement was found by Southern blot analysis, and no increase of ADA mRNA in reticulocyte RNA was detected by dot blot analysis using ADA cDNA. We constructed a genomic DNA library and obtained three clones containing the 5'-promoter region of ADA gene. The 2.2 kb ADA promoter DNA fragment of these clones was fused to the chloramphenicol acetyl transferase (CAT) gene, and transfected to human erythroid cell line K562, and assayed for CAT activity. One of the clones, pADOP 2 cat, expressed about 2.6 times higher CAT activity than the normal ADA promoter fused to CAT gene in K562, but such enhancement was not seen in human non-erythroid cell lines; HL 60 and Raji. From these results, it is most likely, though not conclusive, that the 5' promotor fragment of the ADA gene of the patient was responsible for the cell-specific enhancement of protein synthesis.     

Young woman with hypophosphatasia: A case report

Hypophosphatasia is a rare inherited disease defined by teeth and bone mineralization impairment leading to depletion of tissue non‐specific alkaline phosphatase. We define a young woman diagnosed with hypophosphatasia (after several times alkaline phosphatase levels were low) was discovered following femoral fracture. A 30‐year‐old woman who presented for a history of early permanent teeth loss during the last 5 years and HPP‐like symptoms in family history and bone radiograph verified bowing, deficient mineralization, and symmetrical subtrochanteric stress fractures of femurs was referred to our clinic for further management. Blood test findings defined raised phosphorus levels on two occasions at 6.2 and 5.7 mg/dl and insufficient 25‐hydroxy vitamin D level. HPP early diagnosis and adequate treatment, depending on the clinical symptoms along with laboratory tests, could be effective in decreasing the suffering of the disease and side effects.     

Pancreatic neuroendocrine carcinoma in a pregnant woman: A case report and review of the literature

BACKGROUNDPortal venous thromboembolism caused by malignant pancreatic neuroendocrine tumor metastasis, as the initial presentation of portal hypertension and upper gastrointestinal bleeding, is a rare entity. To our knowledge, there are no reports of this entity in pregnant women. We describe a case of pancreatic neuroendocrine carcinoma during pregnancy with hematemesis and hematochezia as the initial presentation and review the literature to analyze the demographic, clinical, and pathological features to provide a reference for clinical diagnosis and treatment.CASE SUMMARYA 40-year-old woman presented with hematemesis and hematochezia at 26-wk gestation; she had no other remarkable medical history. The physical examination revealed normal vital signs, an anemic appearance, and lower abdominal distension. Abdominal color Doppler ultrasonography showed portal vein thrombosis, splenomegaly, intrauterine pregnancy, and intrauterine fetal death. Esophagogastroduodenoscopy revealed esophageal and gastric varicose veins and portal hypertensive gastropathy. Contrast-enhanced computed tomography demonstrated multiple emboli formation in the portal and splenic veins, multiple round shadows in the liver with a slightly lower density, portal vein broadening, varicose veins in the lower esophagus and gastric fundus, splenomegaly, bilateral pleural effusion, ascites and pelvic effusion, broadening of the common bile duct, and increased uterine volume. According to the results of Positron emission tomography-computed tomography and immunohistochemical staining, the final diagnoses were that the primary lesion was a pancreatic neuroendocrine tumor and that there were secondary intrahepatic metastases and venous cancer thrombogenesis.CONCLUSIONUpper gastrointestinal bleeding in a pregnant woman may be caused by portal hypertension due to a malignant pancreatic neuroendocrine tumor.     

106例重度子痫前期孕产妇的护理

目的：探讨重度子痫前期孕产妇的护理方法。方法：回顾性分析106例重度子痫前期孕产妇的临床资料,对其护理进行分析、总结。结果：106例重度子瘸前期孕产妇9例血压症状控制后出院,26例自然分娩,7l例行剖宫产分娩。院前合并胎盘早剥5例,心力衰竭2例。院内发生子痫2例,产后出血5例。结论：对重度子病前期孕产妇实施有效的心理护理,严密监测病情变化,及时给予恰当的治疗和护理,可以防止并发症的发生,有效地保证母婴安全和提高产科的护理质量。