Supervisor: National Health Commission of the PRC
Sponsored by: Chinese Medical Doctor Association
China Medical University
Sponsored by: Chinese Medical Doctor Association
China Medical University
HELLP syndrome（hemolysis，elevated liver enzymes，and thrombocytopenia syndrome）is a severe pregnancy-related complication characterized by high maternal and fetal mortality rates.Fulminant HELLP syndrome，a critical subtype of HELLP syndrome，is marked by rapid disease progression，significantly abnormal laboratory indices（e.g.，AST>2000 U/L or LDH>3000 U/L），and multi-organ dysfunction.This article reviews the pathophysiological mechanisms，clinical manifestations，diagnostic criteria，and therapeutic principles of fulminant HELLP syndrome.
Pregnancy-associated thrombotic thrombocytopenic purpura（TTP）is a rare obstetric complication characterized by thrombocytopenia，microangiopathic hemolytic anemia，and multi-organ dysfunction.The hypercoagulable state of pregnancy，combined with deficient or inhibited ADAMTS13 enzyme activity，significantly exacerbates disease risk，resulting in high mortality if untreated.This article systematically reviews the pathological mechanisms，early diagnostic biomarkers，and intervention strategies for gestational TTP.A multidisciplinary clinical management pathway is proposed and the future research directions based on the latest scientific advances are discussed.
Postpartum hemolytic uremic syndrome refers to a serious life-threatening syndrome characterized by acute microvascular hemolytic anemia，thrombocytopenia，and acute renal failure that occurs after childbirth.If not treated，it will lead to a mortalityrate of up to 90%.The etiology is still unknown.Current research suggests that endothelial dysfunction，coagulation fibrinolysis imbalance，and abnormal activation of the complement system are the main pathogenesis of this syndrome.Although the incidence is extremely low，the mortality rate is high and the treatment options are limited.In recent years，with the deepening of research on the complement system，new treatment methods such as complement inhibitors have brought new hope to PHUS patients.This article elaborates and discusses its pathogenesis，diagnosis and treatment.
The accurate diagnosis and prompt management of pregnancy-associated complications are crucial for safeguarding the well-being of both mothers and infants.This is particularly true for diseases presenting with similar clinical manifestations yet having markedly distinct treatment strategies.The HELLP syndrome（characterized by hemolysis，elevated liver enzymes，and thrombocytopenia）and postpartum hemolytic uremic syndrome（PHUS），as typical examples of pregnancy-related thrombotic microangiopathy（TMA），share comparable clinical features but possess fundamental pathological disparities.Both diseases have an insidious onset and progress rapidly， and misdiagnosis or delayed diagnosis is not uncommon，which significantly compromises patient prognosis.Thus，the accurate discrimination between the HELLP syndrome and PHUS is pivotal for enhancing diagnostic and therapeutic efficacy and reducing maternal mortality.This article comprehensively analyzes the similarities and differences in the pathogenesis， clinical characteristics， and laboratory findings of the two conditions. It proposes a differential diagnosis approach based on multidisciplinary cooperation and underlines the significance of early recognition in improving prognosis. By reviewing the latest domestic and international guidelines and clinical practices， key differential diagnostic points are summarized， aiming to offer a reference for clinical decision-making.
Acute fatty liver of pregnancy（AFLP）is a kind of extremely dangerous pregnancy-specific disease with a low incidence rate，about which most doctors are in lack of understanding.AFLP often occurs in late pregnancy，characterized by liver failure，coagulation dysfunction，and multiple organ dysfunction.Its onset is sudden and progression is rapid.If it is not intervened in a timely manner，the maternal and infant mortality rates are extremely high.In recent years，with the release of domestic clinical management guidelines for AFLP，the understanding of this disease in clinical work has been gradually improved.The development of multidisciplinary diagnosis and treatment models for critically ill patients has significantly increased the success rate of AFLP treatment.This article elaborates on the key indicators of management of severe AFLP and the multidisciplinary collaborative diagnosis and treatment model，in order to provide reference for the management of severe AFLP.
Thrombocytopenia is a common hematologic complication during pregnancy，and immune thrombocytopenia and thrombotic microangiopathy（TMA）are rare but important etiologies， requiring precise differentiation due to their distinct pathological mechanisms，treatment strategies，and maternal-fetal risks. Immune thrombocytopenia refers to thrombocytopenia mediated by abnormal immune activation. The diagnosis of primary immune thrombocytopenia（ITP） should exclude secondary ITP due to other causes （such as autoimmune diseases， infections， drugs， tumors， etc.），and the treatment for ITP primarily involves glucocorticoids and intravenous immunoglobulin.TMA is a group of heterogeneous diseases with the core pathological features of microvascular thrombosis， presenting with microangiopathic hemolysis，thrombocytopenia，and multi-organ dysfunction，which requires specific interventions based on different disease types，such as pregnancy termination，plasma exchange，or complement inhibitors.This article systematically outlines the key points for differential diagnosis of ITP and TMA based on clinical features， laboratory tests and molecular markers，emphasizing the critical importance of initiating targeted therapy promptly in improving maternal-fetal prognosis.
The rapid and successive formation of arterial and venous thromboses across multiple organ systems within a short period is commonly referred to as a“thrombotic storm”，and catastrophic antiphospholipid syndrome（CAPS）is a rare but highly lethal subtype of this thromboinflammatory disease.Despite its low incidence，CAPS progresses rapidly，has a high mortality rate，and is often misdiagnosed or diagnosed too late.In pregnant patients， especially，it poses a severe threat to both maternal and fetal health.Timely identification and prompt and active treatment have become important clinical issues in improving outcomes.This article focuses on the early recognition and therapeutic strategies for CAPS.
Evans Syndrome（ES）is a rare autoimmune disease characterized by the presence of at least two types of autoimmune cytopenia（AIC）.The etiology of ES is complex and diverse and secondary ES is relatively common.Its occurrence and development are related to primary diseases such as lymphoproliferative disorders，infections，and autoimmune diseases，and the fatality rate is relatively high.When ES is combined with pregnancy，the incidence of perinatal complications is high，which may lead to serious maternal-fetal complications.This article elaborates and summarizes the relevant researches on Evans syndrome at home and abroad，aiming to explore the etiology of Evans syndrome and its impact on pregnancy，provide certain theoretical support for the clinical diagnosis and treatment of ES combined with pregnancy，and improve the maternal and infant outcomes.
Thrombotic microangiopathy（TMA）during pregnancy comprises a group of life-threatening disorders affecting both mothers and infants，characterized by complex pathogenesis，diverse clinical manifestations，and significant therapeutic challenges.Plasma exchange and hemodialysis are two important blood purification techniques that play a vital role in the management of pregnancy-associated TMA.This article， based on the latest domestic and international research advancements and clinical experience， provides an in-depth exploration of the application of plasma exchange and hemodialysis in pregnancy-associated TMA.It analyzes therapeutic mechanisms，operational key points，efficacy evaluation，and complication management for different TMA subtypes，aiming to provide clinical physicians with references， optimize treatment strategies and improve maternal and fetal outcomes.
Objective To explore the association between various meteorological factors and the risk of lactational mastitis in Nanjing. Methods The patients with lactational mastitis admitted to the First Affiliated Hospital of Nanjing Medical University between January 1，2023 and December 31，2023 were enrolled as study subjects.Epidemiological methods were used to describe the epidemic characteristics of lactational mastitis.The daily data of meteorological factors during the study period were obtained from Nanjing Meteorological Observation Center.Then a time series database was established，and Spearman rank correlation analysis was used to analyze the correlation between daily number of cases of lactational mastitis and meteorological factors.Distributed lag nonlinear model（DLNM）was built to quantitatively analyze and evaluate the exposure-lag effects of various meteorological factors on the incidence of lactational mastitis as well as the incidence risk of lactational mastitis under extreme meteorological conditions. Results （1）A total of 282 lactational mastitis patients were included in the study.The incidence of lactational mastitis showed an overall trend of first increasing and then decreasing in 2023，showing a periodical bimodal structure and a significant seasonal effect， with minor peaks in May and December.（2）The risk of lactational mastitis decreased as air pressure increased.When exposed to low pressure，the relative risk of lactational mastitis peaked on the 9th lag day（RR 1.14，95% CI 1.01-1.28）.When exposed to high pressure，the relative risk of lactational mastitis continued to increase within the 14 lag days.（3）The risk of lactational mastitis increased as temperature rose.When exposed to low temperature，the relative risk of lactational mastitis gradually increased during the lag period of 0~14 days.However，when exposed to high temperature，the relative risk of lactational mastitis peaked on the 8th day（RR 1.07，95% CI 0.99-1.16）. Conclusions Daily mean pressure and highest daily temperature have a non-linear relationship with the incidence of lactational mastitis in Nanjing， and there is a significant lag effect.Exposure to low pressure and high temperature significantly increases the incidence risk of lactational mastitis.
Objective To explore the efficacy and safety of albumin-bound paclitaxel combined with platinum-based agents as first-line adjuvant chemotherapy for epithelial ovarian cancer. Methods A total of 330 eligible patients with epithelial ovarian cancer who received initial treatment at the Gynecologic Oncology Department of Sun Yat-sen Memorial Hospital， Sun Yat-sen University between January 25， 2018 and September 28， 2021 were enrolled in this study. These patients were retrospectively divided into two cohorts： Cohort 1 （n=142）， designated as the nab-paclitaxel group， and Cohort 2 （n=188）， designated as the paclitaxel group. The feasibility of nab-paclitaxel as a first-line treatment was compared and evaluated. Results No statistically significant difference was observed in median follow-up duration between the nab-paclitaxel and paclitaxel groups （21.70 months vs. 24.62 months， P=0.109）. The median progression-free survival （PFS） did not differ significantly between the two groups （17.00 months vs. 20.00 months， P=0.488）. However， the nab-paclitaxel group demonstrated higher treatment feasibility （83.8% vs.69.1%， P=0.002） and a lower incidence of myelosuppression of varying degrees （73.2% vs. 86.2%， P=0.003）. Quality-of-life assessments revealed that the nab-paclitaxel group experienced milder gastrointestinal reaction， with statistical significance. Conclusion In the first-line adjuvant chemotherapy for epithelial ovarian cancer， albumin-bound paclitaxel+platinum may be used as an alternative regimen， especially for patients who are allergic to paclitaxel or have severe gastrointestinal reactions.
Objective To investigate the application value of single nucleotide polymorphism （SNP）linkage analysis based on next-generation sequencing （NGS） technology in preimplantation genetic testing （PGT）of families with autosomal dominant polycystic kidney disease （ADPKD）induced by novel mutations. Methods A family with ADPKD induced by novel mutations was selected，and whole exome sequencing and karyotyping were used to determine the pathogenic mutations of the family. To block the inheritance of the disease，blastocyst culture was performed after in vitro fertilization，blastocyst trophoblast cell samples were biopsied，and multiple annealing and looping-based amplification cycles were used for whole genome amplification of the biopsied cells. Sanger sequencing and next-generation sequencing（NGS）-based single nucleotide polymorphism （SNP） haplotyping were used to detect the state of the gene mutations. Copy number variation （CNV） analysis was used for chromosomal aneuploidy screening of the embryos. Prenatal diagnosis in the second trimester of pregnancy was preformed to verify the PGT outcomes. Results A novel c.2098-2A>G mutation in PKD1 gene was found in the proband. A total of 3 blastocysts formed after intracytoplasmic sperm injection were biopsied. One blastocyst was mutation-free and euploid，and the euploid embryo underwent frozen embryo transplantation (FET) to achieve clinical pregnancy. Prenatal diagnosis in the second trimester confirmed that the fetus did not carry heterozygous PKD1 gene c.2098-2A>G mutation. Conclusions Our study is the first PGT report targeting the PKD1 gene c.2098-2A>G mutation，which extends the mutation spectrum of PKD1 gene and provides a new line of thinking about the molecular diagnosis and genetic counseling for ADPKD. Combining NGS-based SNP haplotyping for PGT-M with invasive prenatal diagnosis is an effective approach to block the vertical transmission of ADPKD and can be applied to prevent other monogenic genetic diseases.
