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BACKGROUND: Uterine fibroids are the most frequent female benign tumor, which can cause complications during pregnancy, mainly pain. Differential diagnosis may be challenging and a standardized management approach is lacking. We aim to propose an algorithm for the differential diagnosis of pain during pregnancy and for management of fibroid-related pain. METHODS: A retrospective cohort study of all pregnant women admitted to our center for complications related to fibroids between 2008 and 2019. Data regarding clinical examination, laboratory results, imaging parameters, as well as perinatal outcomes, were collected and assessed (Fisher exact test). RESULTS: Twenty-four pregnant patients were admitted for fibroid-related complications. Six patients were admitted more than one times, for a total of 34 admissions. The main cause of hospital admission was pain (n=33, 94.1%), which was successfully managed with acetaminophen and/or ketoprofen in 91.2%. In two cases, conservative management failed and a surgical approach was undertaken. Most women (n=20, 90.9%) delivered at term, with a cesarean delivery and post-partum hemorrhage rate of 22.7%. All newborns had normal APGAR score, umbilical artery pH and birth weight. CONCLUSIONS: Pain is the most common complication of fibroids during pregnancy. Accurate differential diagnosis and adequate management are pivotal to ensure good perinatal outcomes.

ObjectiveTo appraise the application of the 2018 European Society of Cardiology-adapted modified WHO (mWHO) classification to pregnant women with heart disease managed at our maternal–fetal medicine referral centre and to assess whether the lack of a multidisciplinary Pregnancy Heart team has influenced their outcomes.MethodsA retrospective cohort study including all pregnancies with heart disease managed at our centre between June 2011 and December 2020. Cardiac conditions were categorised in five classes according to the mWHO classification. An additional class, named X, was created for conditions not included in this classification. Outcomes were compared among all classes and factors potentially associated to cardiac complications were assessed.ResultsWe identified 162 women with 197 pregnancies, for a prevalence of 0.7%. Thirty-eight (19.3%) gestations were included in class X. Caesarean section was performed in 64.9% pregnancies in class X, a rate similar to that of class II, II-III, and III/IV, and mostly for obstetric indications; in turn, it was more commonly performed for cardiology reasons in class II–III and III/IV. Cardiac complications occurred in 10.7%, with class X and II pregnancies showing the highest number of events (n=30.8% and 34.6%, respectively). Multiple gestation and urgent caesarean section associated with a 5-fold and 6.5-fold increase in complication rates.ConclusionsEven in a maternal–fetal medicine referral centre, the lack of a multidisciplinary team approach to women with heart disease may negatively impact their outcomes.

A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded before reaching the diagnosis of MPS VII at 8 months of life. During the first year of life he had frequent respiratory infections associated with restrictive and obstructive bronchopneumopathy and underwent three surgical interventions: decompression of the spinal cord at the craniocervical junction, bilateral inguinal hernia, and bilateral clubfoot. At 14 months of life he underwent successful haematopoietic cell transplantation (HCT). During the following 10 months, his bronchopneumopathy progressively worsened, needing chronic pharmacological treatment and O2 administration. The patient died of respiratory insufficiency during a respiratory syncytial virus infection at 25 months of age. Molecular analysis showed the homozygous variant c.1617C > T, leading to the synonymous mutation p.Ser539=. This caused aberrant splicing with partial skipping of exon 10 (r.1616_1653del38) and complete skipping of exon 9 (r.1392_1476del85; r.1616_1653del38). No transcript of normal size was evident. The parents were both confirmed to be carriers. In a subsequent pregnancy, a prenatal diagnosis showed an affected fetus. Ultrasound examination before abortion showed NIHF. The skin and placenta examination by electron microscopy showed foamy intracytoplasmic vacuoles with a weakly electron-dense substrate. MPS VII is a very rare disease but it is possible that some cases go undiagnosed for several reasons, including that MPS VII, and other lysosomal storage diseases, are not included in the work-up for NIHF in many institutions, and the presence of anasarca at birth may be confounding for the recognition of the typical facial characteristics of the disease. This is the eighth patient affected by MPS VII who has undergone HCT. It is not possible to draw conclusions about the efficacy of HCT in MPS VII. Treatment with enzyme replacement is now available and will probably be beneficial for the patients who have a milder form with no or little cognitive involvement. Increased awareness among clinicians is needed for prompt diagnosis and to offer the correct treatment as early as possible.

Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome caused by mutations of the tumour-suppressor NF2, which encodes the merlin protein. Mutations are associated with a predisposition to development of benign tumours in the central nervous system. Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. In this patient, we identified the novel c.428_430delCTTdel mutation in NF2, involving the amino-terminal FERM domain, which is fundamental for the correct tumour suppressor function of the protein. Bioinformatic analyses revealed an important structural perturbation of the FERM domain, with a predicted impairment of the anti-tumour activity.

Wood of Picea abies and Eucalyptus nitens was heated for 60 minutes in an autoclave with overheated water vapour at temperatures of 140 °C to 170 °C. Pressure in the autoclave rose with increasing temperature. The chemical composition of the wood was ascertained according to the treatment (relative chemical composition, proportion of extractable substances and pH-value). With increasing temperature the pH-value fell while the proportion of substance extractable in hot water rose. The loss of pentosan due to temperature raise was higher for Picea abies than for Eucalyptus nitens. Meanwhile, the increment of soluble constituents in toluene, in warm water and in 1% NaOH solution was higher for Eucalyptus nitensthan for Picea abies. The proportion of extractable substances increased strongly at temperatures above 140 °C. The equilibrium moisture content and the swelling due to vapour adsorption hardly varied for either species.

Se analiza la aptitud pulpable de una bambusácea nativa chilena, colihue (Chusquea culeou E. desv.), para lo cual se recolectan culmos entre 13 y 36 mm de diámetro con longitudes de 3 m, completamente limpios de ramas desde predios de la X Región de Chile. Los análisis químicos, pulpas y licores negros de cocción se realizan a través de normas TAPPI. Los culmos en paquetes se llevan al astillador industrial utilizado para especies maderables, estas astillas se someten a un proceso kraft variando la carga de álcali activo y tiempo de permanencia a 170ºC, manteniendo constante el resto de las condiciones de pulpaje. Entre las propiedades químicas destaca el alto contenido de extraíbles totales, solubles en soda 1% y cenizas, valores que superan notablemente a los encontrados en especies maderables, en cambio el contenido de holocelulosa y lignina son similares a especies de latifoliadas. Las astillas de colihue producidas por el astillador industrial presentan granulometría conforme a lo permitido por el pulpaje kraft. La carga de álcali activo en el rango de 12 a 16% bms, otorga rendimientos clasificados entre 42,4 y 47,5% bms con rechazos entre 1,7 y 8,9% bms y números de Kappa entre 8,8 y 18,8. El aumento en la carga de álcali activo influye principalmente en la reducción de rechazo y aumento de la deslignificación. El colihue presenta muy buenas características pulpables como para destinarlo a proceso kraft.

Transient myeloproliferative disorders can be associated with hydrops in Down syndrome fetuses. No cases of prenatal management of such a condition have been reported in the literature. We report a case of myeloproliferative disorder diagnosed by cordocentesis at 31 weeks in a Down syndrome fetus with pericardial effusion. A pericardiocentesis was performed at the first signs of hydrops and successfully improved fetal cardiac function, allowing for continuation of pregnancy.

Objective: To assess the accuracy of fluorescent in situ hybridization (FISH) on amniocytes in fetuses affected by structural malformations suggestive of chromosomal anomalies. Methods: FISH of uncultured amniotic fluid cells and conventional cytogenetic analysis were performed on 48 pregnancies with ultrasonographic (US) evidence of fetal anomalies. The AneuVysion® assay (Vysis) with specific probes for chromosomes 13, 18, 21, X and Y, was used. Amniotic fluid samples were obtained between the 14th and 34th weeks of gestation. Results: In cases with a single abnormal US finding (n = 15), 5 aneuploidies were detected (1 case of trisomy 13 and 4 of trisomy 21). In the group with two or more malformations (n = 33) there were 15 aneuploidies (9 cases of trisomy 18, 2 of trisomy 21, 2 monosomy X, 1 trisomy 13, and 1 triploidy). In this group, conventional cytogenetic analysis revealed two additional chromosomal anomalies not detectable by FISH (1 trisomy 16 mosaic, and a terminal deletion 4p). No sex aneuploidies were observed. Conclusions: The lack of false-positive diagnosis in the FISH analysis in our sample prompts us to consider interphase FISH as a useful tool in pregnancies at high risk for chromosomal aneuploidies. When FISH analysis is normal, the overall risk of chromosomal abnormalities is significantly reduced. However, the finding of two chromosomal anomalies undetectable by AneuVysion® assay confirms the need for conventional chromosome analysis to complement FISH results. Moreover, the results collected here, in agreement with those already reported in the literature, indicate that FISH analysis on uncultured amniocytes can play an important role in counselling and decision-making, especially in cases at risk for aneuploidies, such as those with structural abnormalities at US.

Objective To assess the clinical relevance of adnexal masses in pregnancy and the usefulness of ultrasound in their management. Design A prospective study on pregnancy complicated by adnexal masses. Setting Department of Obstetrics and Gynaecology in Italy. Population 6636 women with pregnancy in utero followed in our clinic from January 1996 to December 1999. Methods From 1996 to 1999, all ovarian cysts with a diameter exceeding 3 cm were prospectively recorded and followed. The management was expectant except in case of symptoms or suspected malignant features. Cysts suggestive of borderline tumours were treated expectantly. Main outcome measures Clinical relevance of adnexal masses in pregnancy, the outcome of these pregnancies and the usefulness of ultrasound examination in their management. Results We detected 82 cysts in 79 of 6636 women (1.2 in 100 term pregnancies). Sixty-eight women were asymptomatic at the time of diagnosis, whereas 11 (13.9%) were diagnosed because of pain. Diagnosis occurred in the first trimester for 57 cases and in the second or third trimester in 22 (27.8%). One-half of the cysts were simple and anechoic at ultrasound. Fifty-seven had a diameter not exceeding 5 cm. Forty-two cyst resolved in pregnancy without treatment. Three cysts required surgery within few days (torsion). One woman required laparotomy at the 37th week of gestation, due to torsion. When one case of termination was excluded, 78 women delivered at term (66 vaginally, 12 by caesarean section). Nineteen women underwent surgery after pregnancy. We recorded three Stage Ia borderline tumours, accounting for 3/82 cysts (3.6%) and 3/30 persisting masses (10%). Conclusions Ultrasound allows definition of ovarian cysts in pregnancy and this positively impacts on management. The incidence of cancer among persistent masses is lower than previously reported. Acute complications in stable cysts are extremely uncommon after the first trimester. An expectant management is successful in the majority of cases and should be considered more often. Routine removal of persistent cysts is not justified.

Três clones de Populusxeuramericana (cv.I-72, cv.I-161 e cv.I-488) cultivados no sul do Chile foram submetidos à análise química e posteriormente a polpações kraft e soda-antraquinona. Estudou-se ainda a influência da umidade dos cavacos sobre a polpação kraft. A composição química entre os três híbridos não apresenta diferenças significativas e a polpação kraft promove o maior rendimento, menor percentagem de rejeitos e menor teor de lignina residual na polpa. O efeito do teor de umidade dos cavacos na polpação kraft exerce influência sobre o rendimento depurado, rejeito e teor de lignina residual na polpa. Um aumento na umidade dos cavacos causa um maior rendimento, menor percentagem de rejeito e menor número Kappa na polpa. Os híbridos estudados possuem um potencial favorável para a obtenção de polpa kraft, segundo os rendimentos e número Kappa similares, obtidos em espécies de Pinus spp e Eucalyptus spp. POTENTIALITY OF HYBRIDS OF Populusxeuramericana FOR CELULOSE PULPING Abstract Three cultivated clones of Populusxeuramericana (cv.I-72, cv.I-161 and cv.I-488) in southern Chile were submitted to chemical analysis and to kraft and soda-antraquinone pulping. It was still studied the influence of the chip moisture on the kraft pulping. There were no significant differences on the wood chemical composition among the three hybrids. Kraft pulping promoted the highest yield on the pulp, the lowest percentage of rejects and the lowest rate of residual lignin on the pulp. The effect of the chip moisture on the kraft pulp influences on the screened yield, percentage of rejects and the rate of residual lignin. An increase on the moisture content of chips reaches a higer yield, lower percentage of reject and lower Kappa number. According to similar yield of pulp and Kappa number reached on Pinus spp and Eucalyptus spp species pulping, the hybrids studied at these experiments own a favorable potential for obtaining kraft pulp.

Nuchal fold thickness is the best ultrasonographic predictor of fetal trisomy 21. However, the risk assigned on the basis of the commonly used threshold of nuchal fold thickness/=6 mm does not take into consideration the significant associations between nuchal fold thickness and gestational age and between maternal age and Down syndrome. We propose a new method of calculating Down syndrome probability that takes into account both gestational age at examination and previously assessed probability of Down syndrome.Nuchal fold thickness was measured at ultrasonographic examination at 14 to 22 weeks' gestation without previous knowledge of the fetal karyotype. Nuchal cystic hygromas were excluded from analysis. Statistical analyses included correlation, logistic regression to control for other ultrasonographic predictors of trisomy 21 and for maternal age, receiver operating characteristic curve, and likelihood ratios (defined as the ratio of the sensitivity to the false-positive rate). P.05 was considered significant.Mean gestational age at ultrasonography was 16.9 weeks' gestation (range, 14-22 weeks' gestation). Mean (+/-SD) nuchal fold thickness in fetuses with trisomy 21 (4.7 +/- 1.6 mm; n = 29) was greater than in euploid fetuses (3.2 +/- 0.9; n = 780; P.001). Logistic regression analysis established that nuchal fold thickness was a significant predictor of trisomy 21 independent both of the other ultrasonographic markers and of maternal age (P.001). Regression analysis showed that nuchal fold thickness was significantly correlated with gestational age among both fetuses with trisomy 21 and euploid fetuses and that the regression line of fetuses with trisomy 21 had a slope similar to that of euploid fetuses. The difference between observed and expected nuchal fold thicknesses on the basis of the biparietal diameter (as a function of gestational age) was used to obviate the confounding effect of gestational age. Differences between observed and expected nuchal fold thicknesses were then used to calculate likelihood ratios. These likelihood ratios could then be multiplied by the individual prior probability to obtain a patient-specific Down syndrome probability.Nuchal fold thickness is correlated with gestational age in both euploid fetuses and fetuses with Down syndrome. Use of the difference between observed and expected nuchal fold thicknesses to determine likelihood ratios allows the calculation of individual posterior probabilities of Down syndrome that take into consideration both gestational age and maternal age.

We conducted a study to evaluate the feasibility and benefits of transabdominal amnioinfusion in preterm premature rupture of membranes with persistent oligohydramnios for the prevention of pulmonary hypoplasia. To this purpose, we designed a cohort study in which the pregnancy outcome of women with rupture of membranes at < or = 25 weeks and persistent (> or = 4 days) oligohydramnios managed with serial amnioinfusions (n = 18) was compared with that of a historic cohort group (controls) with similar characteristics but managed expectantly (n = 16). Pulmonary hypoplasia was diagnosed at birth in the presence of strict radiological and pathological criteria. No amnioinfusion-related complications occurred. The prevalence of pulmonary hypoplasia was significantly lower among the amnioinfused cases compared with the controls (46% [6 of 13] vs 86% [12 of 14], odds ratio [OR] = 0.4, 95% confidence interval [CI] 0.2-0.9), despite a lower gestational age at rupture of membranes in the treated group. Within the group undergoing amnioinfusions, those in which the infused solution was rapidly lost had a higher rate of pulmonary hypoplasia compared with those in which amnioinfusion alleviated oligohydramnios for > 48 hours (considered successful) (0 of 4 vs. 6 of 9, OR = 2.3, 95% CI 1-5.5). Cases of successful amnioinfusion had a longer interval between membrane rupture and appearance of oligohydramnios than those in which the procedure failed to correct oligohydramnios, even though both groups had similar gestational age at appearance of oligohydramnios. This suggests that the rate of loss of amniotic fluid after membrane rupture may predict the rate of loss of the infused solution, and therefore identify a subset of patients who may benefit from the procedure.

OBJECTIVE: Our purpose was to determine the effectiveness of transabdominal amnioinfusion before induction of labor in reducing the incidence of fetal distress in pregnancies with oligohydramnios at term. STUDY DESIGN: Between June 1991 and September 1994 primiparous women with ultrasonographic evidence of oligohydramnios at term, intact membranes, and unripe cervix (Bishop score ≤6), candidates for induction of labor with cervical or vaginal prostaglandin E 2 gel, were randomly selected to receive transabdominal amnioinfusion (amnioinfused group, n = 39) or to proceed with direct labor induction (control group, n = 40). Inclusion criteria were (1) singleton gestation, (2) vertex presentation, (3) ultrasonographic estimation of fetal weight ≥ 2500 gm, and (4) reactive nonstress test. Fetoneonatal outcome variables were compared between the two groups. Statistical analysis used contingency tables, Student t test, or Wilcoxon rank-sum tests, where applicable. RESULTS: Amnioinfusion was successfully performed in 100% of the patients randomized for the procedure. The incidence of severely abnormal fetal heart rate tracings was significantly higher in the control than in the amnioinfused group (42% [17/33] vs 5% [2/37], relative risk 12.9, 95% confidence interval 2.4 to 56.4). The rate of cesarean sections performed for fetal distress was fivefold higher in the control group (25% [10/40] vs 5% [2/39], relative risk 4.9, 95% confidence interval 1.1 to 32.4). No bleeding complications or fetomaternal infectious morbidity were noticed. CONCLUSION: Transabdominal amnioinfusion is a safe, effective option for the prevention of fetal distress in pregnancies with oligohydramnios at term with intact membranes and unripe cervix. (Am J Obstet Gynecol 1996;175:465-70.)

OBJECTIVE : Our objective was to determine the efficacy of the four-chamber view of the fetal heart in routine ultrasonographic examination as a screening tool for congenital heart defects. STUDY DESIGN : A prospective cohort study compared the detection rate of congenital heart defects among 5336 pregnant women screened with the ultrasonographic four-chamber view of the fetal heart from 1987 through 1989 with that among 3680 patients examined ultrasonographically without the four-chamber view during the 2 preceding years (1985 through 1986). All patients were followed until delivery or termination of pregnancy, and clinical or autopsy confirmation of prenatal findings were obtained on all cases. RESULTS : The overall incidence of congenital heart diseases was 5.2 per 1000 (47/9016). During the years 1985 through 1986 15 neonates with congenital heart diseases were identified, seven of which were prenatally diagnosed (sensitivity 43%). During the period 1987 through 1989 a four-chamber view of the fetal heart was obtained in 95% of cases; 32 cases of congenital heart disease occurred, 26 of which were diagnosed antenatally (sensitivity 81%, p = 0.01). Two false-positive diagnoses were made during the second time period, giving a specificity of 99.9%. CONCLUSION : The four-chamber view of the fetal heart is easily obtained, does not significantly increase the duration of a routine ultrasonographic examination, and has an excellent sensitivity for the identification of congenital heart diseases. (Am J Obstet Gynecol 1992;167:1000–3.)

Agenesis of the corpus callosum is a central nervous system anomaly that may be associated with other intracranial abnormalities. It is easily diagnosed in the postnatal period by computed tomographic scan and ultrasound. However, its prenatal sonographic diagnosis remains a challenge. This report will evaluate three cases of fetal agenesis of the corpus callosum, review the antenatal sonographic findings and postnatal outcomes, and provide criteria for the antenatal diagnosis.