A liver urocanase deficiency

Two sisters with a rare inborn error of histidine metabolism resulting from urocanase deficiency are being presented. The more common form of familial histidinemia due to histidase deficiency is excluded. The urocanase deficiency is proven by demonstrating increased excretion of metabolites of the product of the urocanase enzyme action. Further, the strongest evidence for the urocanase defect rests on the demonstration of urocanase deficiency and normal histidase activity in liver.     

Minimally Invasive Therapy of Cervical Intraepithelial Neoplasia for Fertility Preservation

The aim of this study was to determine the extension of cervical intraepithelial neoplasia grade III (CIN III) into endocervical canal and depth of endocervical crypts involvement by CIN with the regard to patients’ age and parity. Correlation between the area of CIN involvement and the extension into endocervical canal was estimated. A total of 218 cervical cone specimens with histologically proven CIN III were included in this study. Extension of CIN into the endocervical canal, depth of involved crypts and ectocervical area affected by CIN were histologically analyzed. The average endocervical crypt involvement was at 1.2 mm of depth. The excision of >4 mm (1.2 mm × 3S.D.) in depth removes >99% of CIN. With the cone length of 15 mm (nulliparous patients) and 18 mm (multiparous patients), no endocervical cone margins were affected with CIN. Since the cone length is the most important determining factor for fertility preservation, the measurement of cervical cone could be essential for future pregnancies.     

Second trimester total human chorionic gonadotropin,alpha-fetoprotein and unconjugated estriol in predicting pregnancy complications other than fetal aneuploidy

OBJECTIVE: To assess the value of alpha-fetoprotein (AFP), total human chorionic gonadotropin (ThCG) and unconjugated estriol in predicting certain complications of pregnancy other than fetal aneuploidy. STUDY DESIGN: Among 2384 women that underwent biochemical screening between 15 and 22 weeks of gestation, pregnancy outcome was evaluated in 677 women under 35 years of age according to serum marker levels by using cut-off points discriminative for Down syndrome or neural tube defect (NTD). RESULTS: High alpha-fetoprotein levels (MoM>/=2.0) were found to be significantly more frequent (P<0.05) in cases of fetal growth restriction (odds ratio=2.7), miscarriage (odds ratio=4.4) and intrauterine fetal death (odds ratio=5.8). High chorionic gonadotropin levels (MoM>/=2.02) were associated with intrauterine growth restriction (odds ratio=2.1; P<0.05), miscarriage (odds ratio=4; P<0.01), preterm birth (odds ratio=2.5; P<0.05), and intrauterine fetal death (odds ratio=4.2; P<0.01). Among pregnancies with intrauterine growth restriction and threatening preterm delivery, low unconjugated estriol levels (MoM相似文献   

Long-term neurodevelopmental outcome of triplets

OBJECTIVE: To analyze the incidence of neurodevelopmental disabilities in triplets and to find out possible connection between the outcome and perinatal events. DESIGN: Retrospective cohort study of 94 triplets and their outcome at 24-144 months of age correlated with gestational age, birth weight, pregnancy complications, early neonatal period, neonatal cranial ultrasound, period of birth (1985-1995, 1996-2000) and type of antenatal care. RESULTS: Sixty-two triplets are healthy, 15 suffer cerebral palsy (CP) and 17 minimal cerebral dysfunction (MCD). Adverse outcome correlates significantly with prematurity, low birth weight and maternal age. In multivariate analysis, both cerebral palsy and minor disabilities correlate significantly with early neonatal complications, neonatal cranial ultrasound with later CP (p<0.01), and MCD with preterm rupture of membranes (p=0.047). Children conceived spontaneously do worse than those born after assisted reproduction (p=0.004), those born in the time period 1996-2000 do better than those born before (p=0.021). Seventy-seven percent (77%) of newborns delivered in the time period 1996-2000 and after level 1 antenatal care was introduced, compared with 54% being delivered in the time period before 1996 and with less meticulous types of antenatal care, remain healthy (p=0.015). CONCLUSION: Triplets are still at high risk for long-term neurodevelopmental complications. Stringent perinatal care might appear important determinant of their long-term outcome.     

Maternal plasma interleukin-6, interleukin-1beta and C-reactive protein as indicators of tocolysis failure and neonatal outcome after preterm delivery.

OBJECTIVE: To investigate whether maternal serum interleukin-6 (IL-6), interleukin-1beta (IL-1beta) and high sensitive C-reactive protein (CRP) could be used as markers of tocolysis failure and adverse neonatal outcome in pregnancies with preterm labor (PL). METHODS: Forty-seven maternal blood samples taken because of PL at admission and delivery were analyzed. Control samples were taken from 20 gravidas with normal pregnancies. Differences in interleukins and CRP levels with or without chorioamnionitis, connatal infection or periventricular leukomalacia (PVL) were analyzed. Cut-off values were estimated for prediction of tocolysis failure and adverse neonatal outcome. RESULTS: All three parameters were significantly higher in patients delivering prematurely than in patients delivering at term. All three parameters were significantly higher with than without histologic chorioamnionitis (p < 0.001), with than without connatal infection (p < 0.01), with than without PVL (p < 0.01 for IL-6 and IL-1beta, p < 0.05 for CRP), and in pregnancies with preterm premature rupture of membranes (PPROM) delivered within 48 hours compared to those more prolonged (p < 0.01). Choosing 50.9 pg/mL of IL-6 and a CRP of 19.7 as cut-offs in maternal blood admission concentrations for neonatal PVL, resulted in sensitivity of 81% and specificity of 91% and sensitivity of 91% and specificity of 81%, respectively. At respective maternal blood admission cut-off levels of 27.8 pg/mL of IL-6 and 8.9 of CRP, both parameters were effective predictors of connatal infection. CONCLUSIONS: Maternal blood IL-6 and CRP could become useful in predicting tocolysis failure and intrauterine treat for the fetus.     

Premature thelarche: a possible adrenal disorder.

Endocrine studies in girls with precocious thelarche were compared with those of normal girls of similar ages. Girls with precocious thelarche showed breast development and oestrogenised vaginal smears as the only signs of precocious sexual development. A few of the girls were tall and some had advanced bone ages but these two findings were not consistently present in the same patient. Hormones--such as serum oestradiol, oestrone, delta 4-androstenedione, progesterone, dehydroepiandrosterone (DHEA), follicle-stimulating hormone, luteinising hormone, and prolactin, and urinary 17-ketosteroids--were measured. Only DHEA was different, being higher in girls with precocious thelarche. It is suggested that the high DHEA level may serve as a precursor for conversion to oestrogens in target tissues, breast, and vagina. This mechanism for oestrogenisation had been reported in other patients.     

Outcome and efficacy of a transobturator polypropylene mesh kit in the treatment of anterior pelvic organ prolapse

ObjectiveTo report the efficacy and complications of anterior pelvic organ prolapse (POP) repair with mesh placed through the transobturator route (Perigee system; AMS, Minnetonka, MN, USA).MethodsIn total, 198 women with anterior POP grade II or higher according to the POP Quantification (POP-Q) system were treated with the Perigee procedure. The primary outcome was defined as anterior POP grade I or lower at 12 months’ follow-up. The secondary outcomes included the incidences of perioperative, mesh-related, short-term, and long-term postoperative complications.ResultsThe cure rate was 92.9% overall and 90.6% among women who had previously undergone a hysterectomy or a traditional anterior colporrhaphy. The mean POP-Q Aa and Ba values were significantly improved after the procedure (Aa 2.2 cm [0.0 to 3.0 cm] versus ? 2.1 cm [? 3.0 to ? 1.2 cm]; Ba ? 2.5 cm [? 1.0 to 4.2 cm] versus ? 2.2 cm [? 5.5 to ? 1.0 cm]; P < 0.001). Vaginal or bladder erosions were observed in 3 patients. Other short- and long-term complications were infrequent and not statistically significant.ConclusionThe Perigee procedure is effective in the treatment of anterior POP and does not have serious complications even among women with previous hysterectomy or traditional anterior colporrhaphy.     

Perinatal care improves the outcome of triplets

OBJECTIVE: To compare pregnancy complications and neonatal outcome of 85 triplet gestations cared for during the 15 years in a single perinatal unit. METHODS: Pregnancies were divided in two groups according to the differences in the management plan and their outcomes were compared. Group I (N = 44) consisted of pregnancies cared from 1986 to 1995, using standard model of care: preventive hospitalization from the early second trimester or home bed rest with routine hospitalization after 28-32 weeks of pregnancy, routine clinical and ultrasound examinations, biophysical profile and non-stress tests starting at 28 weeks, expert neonatal care without free access to surfactant or to parenteral nutrition. Group II (N = 41) consisted of pregnancies cared for from 1986 to 2000 using modified care: preventive hospitalization from early second trimester or home bed rest with routine hospitalization after 32 weeks of pregnancy, biophysical profile, non-stress tests and pulsed doppler analysis of fetal umbilical artery, fetal aorta and middle cerebral artery blood flow from as early as 26 weeks, and neonatal care improved by free access to surfactant and parenteral nutrition. RESULTS: The mean gestational age, mean birth weight, the proportion of growth-retarded infants, the incidence of various maternal complications and immediate neonatal conditions as judged by APGAR scores did not differ between the groups. The incidence of deliveries up to 28 weeks was lower in the group II in comparison to group I, but the proportion of term and near term deliveries was lower. The incidence of cesarean sections was high (91.8%), but significantly increased cesarean delivery rate because of fetal distress was observed in the group II (P = 0.014). Infants in the group II had less frequently uneventful early neonatal period, mainly due to significantly increased conatal infection (P = 0.007) and neonatal encephalopathy rate (P = 0.001). However, perinatal mortality was decreased from 235% in the group I to 142% in the group II for newborns that reached 24 weeks of gestation or more. The decrease of perinatal mortality was observed also in the newborns born after 28 weeks of gestation (123% in the group I and 99% in the group II). None of the children weighing <1000 g died in utero in the group II. Early neonatal death of infants weighing >1500 g was significantly reduced in the group II (P = 0.048). CONCLUSION: Advances in neonatal care, but also the delivery of infants in better overall condition must be the explanation for improved outcome of triplet gestations managed by modified care. A higher cesarean section rate because of imminent fetal jeopardy as judged by not only fetal heart rate tracings, but also umbilical, aortic and middle cerebral artery flow analysis, could be the explanation for lowered perinatal mortality and significantly improved outcome in very preterm infants from triplet gestations.