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. RESULTS: Nineteen oocytes were vitrified and all survived after thawing. Thirteen of the 19 oocytes that underwent ICSI with donors sperm were successfully fertilized. Twelve embryos were cryopreserved again by conventional slow-freezing protocol because of uterine bleeding on the day of transfer. Three thawed embryos were transferred, and a normal male with an infant karyotype of 46,XY was delivered. CONCLUSION: This case report demonstrates effective oocyte cryopreservation by vitrification.

[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). Then according to the onset pattern they were subdivided into 4 subgroups: early abrupt onset (10) and early onset with gradual progress of severe preeclampsia (87), late abrupt onset (18) and late onset with gradual progress of severe preeclampsia (58). Clinical characteristics in each subgroup were evaluated. RESULTS: Cases with abrupt onset accounted for 16.2% out of 173 cases of severe preeclampsia (28/173). The incidence of abrupt onset or onset with gradual progress between early and late onset groups was not significantly different (P > 0.05). Whether in early onset group or late onset group, the incidence of serious maternal complications was much higher in abrupt onset subgroups than that in gradual progress subgroups [100.0% (10/10) vs 34.5% (30/87) and 100.0% (18/18) vs 29.3% (17/58); P < 0.001]. The incidence of serious maternal complications was not significantly different between early onset and late onset groups (P > 0.05). The perinatal mortality rate was higher in abrupt onset subgroups compared to gradual progress subgroups both in early onset groups and in late onset ones (72.7% vs 24.3%, P < 0.01; 22.2% vs 4.9%, P < 0.05). The perinatal mortality rate was higher in each subgroups in early onset groups than that in late onset ones respectively (P < 0.01, P < 0.05). The gestational age at delivery was closely associated with perinatal outcomes. When a delimitation of early onset of severe preeclampsia was set at 32-week gestation, perinatal outcome was associated with both gestational age at birth and the onset time of severe preeclampsia. If the cut-off point was set at 34-week gestation, perinatal outcome was associated only with gestational age at birth. CONCLUSIONS: Approximately 16% pregnant women with severe preeclampsia were attacked abruptly and complicated by serious complications. The clinical delimitation of early onset of severe preeclampsia set at 32-week gestation is significantly associated with poor maternal and perinatal outcomes.

[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. RESULTS: No. G1528C mutations in LCHAD gene were found in these study subjects. CONCLUSION: G1528C is probably not the common prevalent mutation in MTP gene in Chinese. Different prevalent mutation between Chinese and Western white people needs further study.

[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). The specific expression fragments of invasive HM recovered from PAGE gel were re-amplified by PCR, and the PCR products were dotted onto nylon membrane and hybridized by two probes of invasive and non-invasive HM cDNA respectively. Some fragments with a strong positive hybridization signal were cloned into the polylinker of lasmid PUC19 and were sequenced. The fragments' sequences were searched for homology in the NCBI data using the BLAST (Database: GenBank Human EST entries; Posted date:Aug 31, 2004; Number of letters in database: 1,697,659,032; Number of sequences in database: 3,677,722). RESULTS: The 20 fragments in 28 bands with specific expression in invasive HM were re-amplified, of which 13 showed positive hybridization signals, and 3 were cloned into the polylinker of lasmid PUC19. A fragment in the 3 was a new expressed sequence tag (EST) and the sequence was submitted to NCBI data (dbEST_Id: 10875704; GenBank_Accn: BM403211). CONCLUSION: There are more differences in gene expression between invasive and non-invasive HMs, and differential display analyses are of a potential significance to early diagnosis of invasive HM.

[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. Main outcome measures included prolongation of gestation, perinatal mortality rate, and small for gestational age as well as major complications. RESULTS: The average pregnancy prolongation was (9 +/- 3) days (range 1 to 40), (11 +/- 8) (range 1 to 28), (8 +/- 6) (range 1 to 21), and (5 +/- 4) (range 1 to 21), respectively in groups A, B, C and D. The gestational age at delivery was closely associated with the perinatal outcome. When a cut-off point was set at 34-week gestation, perinatal outcome was only associated with the gestational age at birth. If the cut-off point was set at 32-week gestation, perinatal morbidity and mortality were associated with both gestational age at birth and the onset of severe preeclampsia during pregnancy. CONCLUSIONS: The clinical delimitation of early onset of severe preeclampsia at 32-week gestation is significantly associated with poor maternal and perinatal outcome. Expectant management should be carried out in well-selected patients with severe preeclampsia remote from term, individually.

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. Patients suspected to have JOAG got an assessment of visual field and optical coherence tomography. Intraocular pressures (IOPs) of four patients were measured at 8, 10, 12, 14, 17 o'clock respectively after using anti-glaucoma drugs. Mutation screening of all MYOC gene coding exons of the participants was performed by using direct sequencing of PCR products. RESULTS: Clinical examinations and pedigree analysis revealed eight family members were suffered from JOAG. Apparent genetics anticipation phenomenon was observed in this family. Their clinical features included elevated IOP of 35-55mmHg, loss of visual field, thinning of retinal nerve fiber layer, and glaucomatous optic disc damage. Noticeably, their intraocular pressure levels could be controlled within normal range at 8 and 10 o'clock by anti-glaucoma drugs, but their IOPs would elevate >21mmHg after 12 o'clock. Seven patients received trabeculectomy produced thin-walled, pale, and saccate filtering blebs maintaining lower intraocular pressure efficiently. Mutation screening indentified a heterozygous C→T missense mutation in the MYOC gene at position 1 109 in exon 3, corresponding to a substitution of a highly conserved proline to leucine at codon 370 in the olfactomedin domain of MYOC. CONCLUSION: The clinical characteristics of JOAG in this family were 1) genetics anticipation; 2) high IOP; 3) temporay response to anti-glaucoma drugs; 4) filtering surgery produced thin-walled and saccate filtering blebs, helping maintain lower IOP.

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. After these treatments, the patient experienced no apparent remission and chronic renal dysfunction occurred on her. PHUS is a severe emergency with acute onset, rapid progress, and poor prognosis. Early detection, diagnosis, and treatment can significantly improve the prognosis.

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. She was treated with antispasmodics, sedatives, and anti-hypertensive agents, along with anticoagulant therapy and infusion of immunoglobulin. APS during pregnancy often makes pregnancy even more complex and risky. Obstetricians should carry out anticoagulation treatment throughout the perinatal period.

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. The symptoms of HELLP syndrome reappeared and became more severe than before the termination of pregnancy. The patient also had severe and persistent hypoproteinemia, hyponatremia and hypocalcemia. CONCLUSIONS: HELLP syndrome is an acute and critical obstetric syndrome which can have heterogeneous presentations and variable prognosis. We should be fully aware of the diverse clinical characteristics of this condition.

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. METHODS: Clinical data from 59 cases of HELLP syndrome occurring from January 2000 to December 2009 were analyzed retrospectively. Thirty-five cases were classified as complete HELLP syndrome and 24 cases were considered partial HELLP syndrome. RESULTS: Twenty-six of the 59 analyzed patients (44%) with complete HELLP syndrome showed rapid onset, severe signs, symptoms, and complications in addition to a poor clinical outcome. Complications included multiple organ dysfunction syndrome (MODS) occurring in 18 cases, eclampsia (3 cases), placental abruption (3 cases), and perinatal death (4 cases). The remaining 33 cases (24 with partial and 9 with complete HELLP) were characterized by less severe signs, symptoms, complications and progression of the condition. Two of these cases were complicated with MODS (6.1%), and 1 with perinatal death (3.0%). Twelve non-radical-type cases received conservative treatment. The remaining 4 patients had recurring HELLP syndrome (6.78%). CONCLUSIONS: HELLP syndrome is classified as the radical type and non-radical-type according to clinical characteristics and outcome. Classification of HELLP syndrome cases according to clinical features can help in the monitoring and treatment of the disease. Active termination of pregnancy should be considered for radical-type cases. Non-radical-type cases can undergo conservative treatment with close monitoring in an attempt to improve perinatal outcome without increasing maternal morbidity.

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. A total of 102 pregnant women who were diagnosed with acute appendicitis and operated upon in Peking University Third Hospital, China between January 1993 and December 2007 were presented. SPSS 12.0 for Windows was used for data analysis. RESULTS: Seventy-eight pregnant women who were diagnosed with acute appendicitis (sixteen patients had a perforated appendix, 62 patients had a non-perforated appendix) were operated upon during late pregnancy. The interval between symptom onset and surgery was the only predictive variable. A longer interval between symptom onset and surgery was associated with appendix perforation ((109.5 +/- 52.7) hours) than with no appendix perforation ((35.1 +/- 19.62) hours; P = 0.007). There was a significant difference in the rate of preterm labor (5.1% vs 1.3%) and the rate of fetal mortality (25% vs 1.7%) between patients with and without a perforated appendix. CONCLUSIONS: Delaying surgery correlates to more advanced disease with an increased risk of perforation. This contributes to an increased risk of further complications, including premature labor or abortion, and to higher maternal complication rates. Prompt diagnosis may improve the prenatal outcome.