Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation.

Aim: To describe the anticipation and anti-glaucoma drugs response of a Chinese family with juvenile-onset open angle glaucoma (JOAG) caused by the Pro370Leu myocilin (MYOC) mutation.

Methods: Fifteen members of a three-generation Chinese family with JOAG were recruited to this study. They all underwent ophthalmic common examinations.

Patient with antiphospholipid syndrome accompanied by pre-eclampsia who developed hellp syndrome and eclampsia after abortion.

Antiphospholipid syndrome (APS) refers to a group of clinical symptoms and signs caused by antiphospholipid antibody (aPLA). We reported a rare case of poor outcome of a pregnant woman with APS. The pregnant woman had APS, hemolytic anemia, elevated liver function and low platelet count (HELLP) syndrome, and eclampsia and had a poor outcome from a second pregnancy.

A case of severe preeclampsia diagnosed as post-partum hemolytic uremic syndrome.

Post-partum hemolytic uremic syndrome (PHUS) is a severe thrombotic microangiopathy clinically characterized by hemolytic anemia, renal dysfunction, and low platelets after birth with rapid progression and poor prognosis. Here, we reported a rare case of severe preeclampsia diagnosed as hemolytic uremic syndrome after birth. The patient was diagnosed with PHUS and underwent intermittent plasma exchange with supportive treatment including glucocorticoid injections and transfusion of suspended red blood cells.

A case of aggravation of hemolytic anemia, elevated liver enzymes and low platelet count syndrome after delivery.

Background: Hemolytic anemia, elevated liver enzymes and low platelet count (HELLP) syndrome is a severe obstetric complication which usually resolves in most patients after delivery.

Methods: We report a rare case of aggravation of HELLP syndrome after delivery.

Results: The patient underwent the treatment for HELLP syndrome, including glucocorticoid therapy.

Investigation of diagnosis and treatment of hemolysis-elevated liver enzymes-low platelet counts (HELLP) syndrome: clinical analysis of 59 cases.

Background: Hemolysis-elevated liver enzymes-low platelet counts (HELLP) syndrome is a clinical condition occurring in middle and late stage pregnancy. It is characterized by hemolysis, elevated liver enzymes and low platelet counts. This study involves the analysis of the diagnosis, clinical characteristics and treatment of 59 cases of HELLP syndrome as well as the clinical classification, method of delivery and gestational age at delivery.

Diagnosis of appendicitis during pregnancy and perinatal outcome in the late pregnancy.

Background: Appendicitis is the most common surgical problem in pregnancy, however the particular dangers of appendicitis in pregnancy lie in the varied presentation of symptoms and the higher chance of delayed diagnosis. The aim of this study was to determine the risk factors associated with prenatal outcome in acute appendicitis during second and third trimester pregnancies.

Methods: This was a retrospective single-center study that presented a descriptive analysis of the results.

Normal birth from cryopreserved embryos after intracytoplasmic sperm injection of frozen semen into vitrified human oocytes.

Objective: To describe the birth achieved from frozen embryos after intracytoplasmic sperm injection (ICSI) of donor sperm into vitrified oocytes.

Patient: A 25-year-old woman whose husband was azoospermic undergoing IVF therapy.

Methods: Oocytes collected after ovarian stimulation were vitrified, thawed, and fertilized by frozen donor sperm.

[Study on different onset patterns and perinatal outcomes in severe preeclampsia].

Objective: To explore the different clinical onset patterns in severe preeclampsia.

Methods: A prospective observational study was conducted in 173 cases of severe preeclampsia. They were divided into two groups according to the onset of gestational age of severe preeclampsia, early onset of severe preeclampsia (S-PE) (onset < or = 34 weeks) and late onset of S-PE (onset > 34 weeks).

[Clinical delimitation and expectant management of early onset of severe pre-eclampsia].

Objective: To determine the clinical delimitation and to investigate the difference of maternal and perinatal outcome with expectant management of women with early onset of severe preeclampsia.

Methods: Two hundred and fifty-five cases meeting the criteria of severe pre-eclampsia who underwent expectant management were enrolled in this study. Patients were divided into 4 groups: group A (n = 24) with onset before 28 weeks of gestation, group B (n = 50) with onset during 28 - 31 weeks of gestation, group C (n = 34) with onset during 32 - 33 gestational weeks, and group D (n = 147) with onset >or= 34 weeks of gestation.

[Study of gene differential display of hydatidiform moles].

Objective: To screen the specific molecular maker of invasive hydatidiform moles (HM) by differential display analysis.

Methods: For dot hybridization, about 1.0 microg of each cDNA sample of invasive and non-invasive HM were labeled as probes using the Dig DNA labeling and Detection Kit (Boehringer Mannheim).

[Screening for the G1528C mutation in long chain fatty acid oxidation enzyme in Han nationality in Beijing population].

Objective: To explore the carrier rate of G1528C mutation in alpha-subunit gene of MTP in Chinese newborns.

Methods: 1 200 cases of cord blood samples were taken in pregnant women with Han nationality in Chinese. PCR-RFLP analysis was conducted for detection of G1528C mutation.