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1.
Lancet ; 402(10417): 2091-2100, 2023 12 02.
Artículo en Inglés | MEDLINE | ID: mdl-37952548

RESUMEN

BACKGROUND: Oxytocin is effective in reducing labour duration but can be associated with fetal and maternal complications that could potentially be reduced by discontinuing the treatment during labour. We aimed to assess the impact of discontinuing oxytocin during active labour on neonatal morbidity. METHODS: STOPOXY was a multicentre, randomised, open-label, controlled, superiority trial conducted in 21 maternity units in France. Participants who received oxytocin before 4 cm dilation were randomly assigned 1:1 to either discontinuous oxytocin (oxytocin infusion stopped beyond a cervical dilation equal to or greater than 6 cm) or continuous oxytocin (administration of oxytocin continued until delivery). Randomisation was stratified by centre and parity. The primary outcome, neonatal morbidity, was assessed at birth using a composite variable defined by an umbilical arterial pH at birth less than 7·10, a base excess greater than 10 mmol/L, umbilical arterial lactates greater than 7 mmol/L, a 5-min Apgar score less than 7, or admission to the neonatal intensive care unit. Efficacy and safety was assessed in participants who were randomly assigned (excluding those who withdrew consent or were deemed ineligible after randomisation) and had reached a cervical dilation of at least 6 cm. This trial is registered with ClinicalTrials.gov, NCT03991091. FINDINGS: Of 2459 participants randomly assigned between Jan 13, 2020, and Jan 24, 2022, 2170 were eligible to receive the intervention and were included in the final modified intention-to-treat analysis. The primary outcome occurred for 102 (9·6%) of 1067 participants (95% CI 7·9 to 11·5) in the discontinuous oxytocin group and for 101 (9·2%) of 1103 participants (7·6 to 11·0) in the continuous oxytocin group; absolute difference 0·4% (95% CI -2·1 to 2·9); relative risk 1·0 (95% CI 0·8 to 1·4). There were no clinically significant differences in adverse events between the two groups of the safety population. INTERPRETATION: Among participants receiving oxytocin in early labour, discontinuing oxytocin when the active phase is reached does not clinically or statistically significantly reduce neonatal morbidity compared with continuous oxytocin. FUNDING: French Ministry of Health and the Département de la Recherche Clinique et du Développement de l'Assistance Publique-Hôpitaux de Paris.


Asunto(s)
Trabajo de Parto , Oxitócicos , Recién Nacido , Embarazo , Femenino , Humanos , Oxitocina/efectos adversos , Oxitócicos/efectos adversos , Trabajo de Parto Inducido , Morbilidad
2.
Am J Obstet Gynecol ; 230(3): 362.e1-362.e8, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37722570

RESUMEN

BACKGROUND: Multiple pregnancy with a complete hydatidiform mole and a normal fetus is prone to severe obstetrical complications and malignant transformation after birth. Prognostic information is limited for this rare form of gestational trophoblastic disease. OBJECTIVE: This study aimed to determine obstetrical outcomes and the risk of gestational trophoblastic neoplasia in women with multiple pregnancy with complete hydatidiform mole and coexisting normal fetus, and to identify risk factors for poor obstetrical and oncological outcomes to improve patient information and management. STUDY DESIGN: This was a retrospective national cohort study of 11,411 records from the French National Center for Trophoblastic Disease registered between January 2001 and January 2022. RESULTS: Among 11,411 molar pregnancies, 141 involved histologically confirmed multiple pregnancy with complete hydatidiform mole and coexisting normal fetus. Roughly a quarter of women (23%; 33/141) decided to terminate pregnancy because of presumed poor prognosis or by choice. Among the 77% of women (108/141) who continued their pregnancy, 16% of pregnancies (17/108) were terminated because of maternal complications, and 37% (40/108) ended in spontaneous miscarriage before 24 weeks' gestation. The median gestational age at delivery in the remaining 47% of pregnancies (51/108) was 32 weeks. The overall neonatal survival rate at day 8 was 36% (39/108; 95% confidence interval, 27-46) after excluding elective pregnancy terminations. Patients with free beta human chorionic gonadotropin levels <10 multiples of the median were significantly more likely to reach 24 weeks' gestation compared with those with free beta human chorionic gonadotropin levels >10 multiples of the median (odds ratio, 7.0; 95% confidence interval, 1.3-36.5; P=.022). A lower free beta human chorionic gonadotropin level was also associated with better early neonatal survival (the median free beta human chorionic gonadotropin level was 9.4 multiples of the median in patients whose child was alive at day 8 vs 20.0 multiples of the median in those whose child was deceased; P=.02). The overall rate of gestational trophoblastic neoplasia after a multiple pregnancy with complete hydatidiform mole and a normal fetus was 26% (35/136; 95% confidence interval, 19-34). All 35 patients had low-risk International Federation of Gynecology and Obstetrics scores, and the cure rate was 100%. Termination of pregnancy on patient request was not associated with lower risk of gestational trophoblastic neoplasia. Maternal complications such as preeclampsia and postpartum hemorrhage were not associated with higher risk of gestational trophoblastic neoplasia, and neither were high human chorionic gonadotropin levels or newborn survival at day 8. CONCLUSION: Multiple pregnancy with complete hydatidiform mole and coexisting fetus carries a high risk of obstetrical complications. In patients who continued their pregnancy, approximately one-third of neonates were alive at day 8, and roughly 1 in 4 patients developed gestational trophoblastic neoplasia. Therefore, the risk of malignant transformation appears to be higher compared with singleton complete moles. Low levels of free beta human chorionic gonadotropin may be indicative of better early neonatal survival, and this relationship warrants further study.


Asunto(s)
Enfermedad Trofoblástica Gestacional , Mola Hidatiforme , Neoplasias Uterinas , Recién Nacido , Niño , Embarazo , Humanos , Femenino , Lactante , Estudios Retrospectivos , Neoplasias Uterinas/epidemiología , Neoplasias Uterinas/patología , Estudios de Cohortes , Mola Hidatiforme/epidemiología , Mola Hidatiforme/patología , Embarazo Múltiple , Enfermedad Trofoblástica Gestacional/patología , Gonadotropina Coriónica Humana de Subunidad beta , Feto/patología , Gonadotropina Coriónica
3.
Fetal Diagn Ther ; 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38934150

RESUMEN

INTRODUCTION: Congenital microgastria (CM) is a rare condition due to early interruption of stomach development between the 4th and 8th week of gestation, leading to a small midline tubular stomach. Prenatal diagnosis of CM is a challenge with important implications. This study explores the value of biochemical amniotic fluid (AF) analysis and fetal magnetic resonance imaging (MRI) for the prenatal diagnosis of CM in case of non visible stomach on fetal ultrasound. CASE PRESENTATION: Four cases of CM were retrospectively investigated in terms of fetal ultrasound, MRI findings and biochemical AF analyses. The patients were referred to the Prenatal Diagnosis Unit of the Hôpital Femme Mère Enfant (Lyon, France) at a mean age of 21 weeks of gestation for absent or small fetal stomach on ultrasound with a suspected diagnosis of esophageal atresia. Ultrasound examination confirmed that the stomach was absent in two of the four fetuses and small in the other two. This feature was associated with a congenital heart defect in two cases and a terminal transverse limb defect in one case. Standard genetic workup (CGH array) results were normal. Biochemical AF analysis, including the esophageal atresia (EA) index were not suggestive of EA. Fetal MRI showed a small midline tubular stomach, associated with a dilated esophagus, highly suggestive of CM. CONCLUSION: If the fetal stomach is absent on ultrasound, CM should be considered if the AF volume is normal, especially during the third trimester, and if the EA index is not suggestive of gastrointestinal obstruction. In these cases, the diagnosis can be confirmed by fetal MRI, through observation of a small midline tubular stomach associated with a dilated esophagus.

4.
Fetal Diagn Ther ; 50(3): 143-157, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36693325

RESUMEN

INTRODUCTION: Our objective was to evaluate the outcome of fetuses with first- and second-trimester fetal cytomegalovirus infection (CMVi) according to prenatal imaging patterns, especially fetuses presenting with mild imaging features (MF), being currently of uncertain prognosis. MATERIAL AND METHODS: In a retrospective study of 415 suspected CMVi cases, 59 cases were confirmed. Among prenatal imaging features, microcephaly, cortical disorder, and cerebellar hypoplasia as well as severe IUGR and fetal hydrops were considered as severe imaging features (SF). Other imaging features were considered as MF. Postnatal outcome was classified as "normal outcome," "mild sequelae" characterized mainly by sensorineural disorder (SND) and "severe sequelae" characterized by cognitive impairment. RESULTS: Only first-trimester (T1) and second-trimester (T2) CMVi cases were included in our study (n = 49) since all third-trimester cases (n = 10) had normal imaging and outcome. Sixteen fetuses had normal prenatal imaging and normal outcome, except one showing SND. Abnormal ultrasound findings were present in 33 fetuses, including SF noted in 16 fetuses, related exclusively to first-trimester CMVi. Termination of pregnancy was performed in 18 cases. Twelve first-trimester infected fetuses presented SF, whereas 6 fetuses (T1: n = 5, T2: n = 1) presented isolated MF. Four fetal deaths were encountered. Live-born babies with abnormal imaging included 10 fetuses with MF and one with SF. Among the 10 live babies with isolated MF, SND was encountered in 5 cases, whereas 5 children demonstrated normal outcome. Overall, 50% of our babies showing MF suffered from SND. No case of cognitive disorders was reported in babies showing only MF. CONCLUSION: SF were encountered only in first-trimester CMVi and should be distinguished from MF. Among our 10 live babies with prenatal MF following first- or second-trimester infection, 50% showed SND, whereas none presented severe sequelae. In 16 fetuses displaying normal fetal imaging, SND was encountered in one first-trimester case (6%).


Asunto(s)
Infecciones por Citomegalovirus , Enfermedades Fetales , Complicaciones Infecciosas del Embarazo , Embarazo , Lactante , Femenino , Niño , Humanos , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Infecciones por Citomegalovirus/diagnóstico por imagen , Infecciones por Citomegalovirus/congénito , Diagnóstico Prenatal/métodos , Complicaciones Infecciosas del Embarazo/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen
5.
Am J Obstet Gynecol ; 227(2): 271.e1-271.e13, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35123930

RESUMEN

BACKGROUND: The number of twin pregnancies continues to increase worldwide as both the number of pregnancies obtained by medically assisted reproduction and age at first pregnancy keep rising. Preterm delivery is the major complication associated with twin pregnancies. The effectiveness of preventive treatments such as progesterone or cervical cerclage for women with a short cervix is doubtful in twin pregnancies. The effectivity of cervical pessaries in preventing preterm birth and its associated morbidity and mortality is also controversial. OBJECTIVE: We sought to investigate if the Arabin pessary reduces adverse neonatal outcomes in twin pregnancies with a short cervix. STUDY DESIGN: This open-label, multicenter, randomized controlled trial on twin pregnancies with a cervical length of <35 mm compared pessary placement at 16+0 to 24+0 weeks' gestation with standard care alone. The primary endpoint was a composite of adverse neonatal outcomes, namely peripartum or neonatal death or significant neonatal morbidity before hospital discharge, defined as at least 1 of the following complications: bronchopulmonary dysplasia, intraventricular hemorrhage grade III to IV, periventricular leukomalacia, necrotizing enterocolitis grade II or higher, culture-proven sepsis, and retinopathy requiring treatment. A sample size of 308 pregnancies was planned to ensure 80% power to compare the proportions of women with at least 1 infant with an adverse neonatal outcome. The intention-to-treat analysis after multiple imputation of missing data, was supplemented with a secondary analysis that controlled for gestational age and cervical length, both at inclusion. The primary endpoint was also compared between randomization groups in the per-protocol population, which excluded patients with prespecified major protocol violations (mostly cervical cerclage and/or progesterone after inclusion). Secondary endpoints included preterm birth, spontaneous preterm birth, and pessary side effects. RESULTS: In total, 315 women were randomized to either receive a pessary (n=157) or standard management (n=158). Overall, 10.8% (34 women) of participants had a missing value for the primary endpoint, mostly (79%) because of the lack of paternal consent for neonatal data collection. In the intention-to-treat analysis, the adverse neonatal outcome occurred in 16.8% of the pessary group vs in 22.5% of the control group (risk ratio, 0.69; 95% confidence interval, 0.39-1.23; P=.210). The per-protocol analysis did not show any significant difference between groups (risk ratio, 0.78; 95% confidence interval, 0.47-1.28; P=.320). The occurrence of preterm birth or spontaneous preterm birth did not differ significantly between groups. No serious side effects were associated with pessary use. CONCLUSION: Pessary use in our study did not significantly reduce adverse neonatal outcomes in twin pregnancies with a short cervix.


Asunto(s)
Pesarios , Nacimiento Prematuro , Medición de Longitud Cervical , Cuello del Útero/diagnóstico por imagen , Femenino , Humanos , Recién Nacido , Pesarios/efectos adversos , Embarazo , Embarazo Gemelar , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Nacimiento Prematuro/prevención & control , Progesterona/uso terapéutico
6.
Arch Gynecol Obstet ; 305(5): 1159-1168, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-34524504

RESUMEN

BACKGROUND: Introduction: There is clear evidence that fetuses with intrauterine growth restriction (IUGR) do not receive the minimum evidence-based care during their antenatal management. OBJECTIVE: Considering that optimal management of IUGR may reduce neonatal morbi-mortality in IUGR, the objective of the present study was to evaluate the impact of antenatal management of IUGR according to the recommendations of the French college of gynecologists and obstetricians (CNGOF) on the neonatal prognosis of IUGR fetuses. STUDY DESIGN: From a historical cohort of 31,052 children, born at the Femme Mère Enfant hospital (Lyon, France) between January 1, 2011 and December 31, 2017, we selected the population of IUGR fetuses. The minimum evidence-based care (MEC) in the antenatal management of fetuses with IUGR was defined according to the CNGOF recommendations and neonatal prognosis of early and late IUGR fetuses were assessed based on the whether or not they received MEC. The neonatal prognosis was defined according to a composite criterion that included neonatal morbidity and mortality. RESULTS: A total of 1020 fetuses with IUGR were studied. The application of MEC showed an improvement in the neonatal prognosis of early-onset IUGR (p = 0.003), and an improvement in the neonatal prognosis of IUGR born before 32 weeks (p = 0.030). Multivariate analysis confirmed the results showing an increase in neonatal morbi-mortality in early-onset IUGR in the absence of MEC with OR 1.79 (95% CI 1.01-3.19). CONCLUSION: Diagnosed IUGR with MEC had a better neonatal prognosis when born before 32 weeks. Regardless of the birth term, MEC improved the neonatal prognosis of fetuses with early IUGR. Improvement in the rate of MEC during antenatal management has a significant impact on neonatal prognosis.


Asunto(s)
Retardo del Crecimiento Fetal , Ginecología , Niño , Medicina Basada en la Evidencia , Femenino , Retardo del Crecimiento Fetal/terapia , Feto , Humanos , Recién Nacido , Embarazo , Pronóstico , Ultrasonografía Prenatal/métodos
7.
Am J Obstet Gynecol ; 224(5): 528.e1-528.e12, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33248135

RESUMEN

BACKGROUND: Selective fetoscopic laser coagulation of the intertwin anastomotic chorionic vessels is the first-line treatment for twin-twin transfusion syndrome. However, in stage 1 twin-twin transfusion syndrome, the risks of intrauterine surgery may be higher than those of the natural progression of the condition. OBJECTIVE: This study aimed to compare immediate surgery and expectant follow-up in stage 1 twin-twin transfusion syndrome. STUDY DESIGN: We conducted a multicentric randomized trial, which recruited from 2011 to 2018 with a 6-month postnatal follow-up. The study was conducted in 9 fetal medicine centers in Europe and the Unites States. Asymptomatic women with stage 1 twin-twin transfusion syndrome between 16 and 26 weeks' gestation, a cervix of >15 mm, and access to a surgical center within 48 hours of diagnosis were randomized between expectant management and immediate surgery. In patients allocated to immediate laser treatment, percutaneous laser coagulation of anastomotic vessels was performed within 72 hours. In patients allocated to expectant management, a weekly ultrasound follow-up was planned. Rescue fetoscopic coagulation of anastomoses was offered if the syndrome worsened as seen during a follow-up, either because of progression to a higher Quintero stage or because of the maternal complications of polyhydramnios. The primary outcome was survival at 6 months without severe neurologic morbidity. Severe complications of prematurity and maternal morbidity were secondary outcomes. RESULTS: The trial was stopped at 117 of 200 planned inclusions for slow accrual rate over 7 years: 58 women were allocated to expectant management and 59 to immediate laser treatment. Intact survival was seen in 84 of 109 (77%) expectant cases and in 89 of 114 (78%) (P=.88) immediate surgery cases, and severe neurologic morbidity occurred in 5 of 109 (4.6%) and 3 of 114 (2.6%) (P=.49) cases in the expectant and immediate surgery groups, respectively. In patients followed expectantly, 24 of 58 (41%) cases remained stable with dual intact survival in 36 of 44 (86%) cases at 6 months. Intact survival was lower following surgery than for the nonprogressive cases, although nonsignificantly (78% and 71% following immediate and rescue surgery, respectively). CONCLUSION: It is unlikely that early fetal surgery is of benefit for stage 1 twin-twin transfusion syndrome in asymptomatic pregnant women with a long cervix. Although expectant management is reasonable for these cases, 60% of the cases will progress and require rapid transfer to a surgical center.


Asunto(s)
Transfusión Feto-Fetal/terapia , Coagulación con Láser , Espera Vigilante , Adulto , Progresión de la Enfermedad , Femenino , Rotura Prematura de Membranas Fetales/etiología , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Fetoscopía , Humanos , Lactante , Enfermedades del Sistema Nervioso/etiología , Polihidramnios/etiología , Embarazo , Factores de Riesgo , Tasa de Supervivencia , Ultrasonografía Prenatal
8.
Euro Surveill ; 26(29)2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34296674

RESUMEN

The Rhône-Loire metropolitan areas' 2020/21 respiratory syncytial virus (RSV) epidemic was delayed following the implementation of non-pharmaceutical interventions (NPI), compared with previous seasons. Very severe lower respiratory tract infection incidence among infants ≤ 3 months decreased twofold, the proportion of cases among children aged > 3 months to 5 years increased, and cases among adults > 65 years were markedly reduced. NPI appeared to reduce the RSV burden among at-risk groups, and should be promoted to minimise impact of future RSV outbreaks.


Asunto(s)
Epidemias , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Infecciones del Sistema Respiratorio , Adulto , Niño , Francia/epidemiología , Hospitalización , Humanos , Lactante , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/prevención & control , Infecciones del Sistema Respiratorio/epidemiología
9.
Fetal Diagn Ther ; 48(3): 217-226, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33684914

RESUMEN

OBJECTIVES: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. METHODS: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. RESULTS: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. CONCLUSIONS: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.


Asunto(s)
Cuerpo Calloso , Ultrasonografía Prenatal , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Embarazo , Estudios Retrospectivos
10.
Prenat Diagn ; 39(7): 536-543, 2019 06.
Artículo en Inglés | MEDLINE | ID: mdl-31017299

RESUMEN

OBJECTIVE: To examine the outcome of pregnancy with fetal transverse cerebellar diameter (TCD) below the fifth percentile based on routine second- or third-trimester ultrasonography. METHODS: We retrospectively analyzed the outcomes of 12 344 women according to TCD Z scores based on systematic second- or third-trimester ultrasound examination between 2007 and 2015. Information on major malformations, chromosomal anomalies, intrauterine or neonatal demise, and other abnormal findings were collected. RESULTS: In total, 408 fetuses with small prenatal TCD underwent clinical investigation; 160 major malformations were noted, consisting mainly of neurological or cardiac anomalies (39,2%%). Chromosomal anomalies were reported in 39 (9.5%) and intrauterine or neonatal demise in 41 cases (10%). Major malformations and chromosomal anomalies were found in 46.4% and 10% of fetuses with extremely small TCD (Z score < -2.5), respectively, 31.3% and 12.7% of fetuses with small TCD (Z score between -2.0 and -1.645), and 39.6 % and 7.7% of fetuses with subnormal TCD (Z score between -2.0 and -1.645). Intrauterine or neonatal demise was noted in 22%, 8.8%, and 4.8% of fetuses with extremely small, small, and subnormal TCD, respectively (P < .05). Among intrauterine growth-restricted fetuses, fetal demise or neonatal adverse outcome was reported in 75%, 81.8%, and 18.5%, respectively. Of all the fetuses, 2.2% were lost to follow-up. CONCLUSION: A small cerebellar diameter below the fifth percentile is a relevant marker to detect associated anomalies during routine ultrasound examination in the second or third trimester. This is related to a high rate of fetal malformations, chromosomal anomalies, and genetic disorders, regardless of the severity of the cerebellar small size. Small TCD seems to be a prognostic factor for fetal growth restriction. Therefore, when facing a TCD below the fifth percentile, patients should be referred for further sonography and fetal karyotyping.


Asunto(s)
Cerebelo/anomalías , Retardo del Crecimiento Fetal/diagnóstico , Retardo del Crecimiento Fetal/epidemiología , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/epidemiología , Resultado del Embarazo/epidemiología , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/epidemiología , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/epidemiología , Femenino , Muerte Fetal/etiología , Desarrollo Fetal/fisiología , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/epidemiología , Retardo del Crecimiento Fetal/patología , Feto/diagnóstico por imagen , Feto/patología , Edad Gestacional , Humanos , Lactante , Mortalidad Infantil , Recién Nacido , Enfermedades del Recién Nacido/diagnóstico , Enfermedades del Recién Nacido/epidemiología , Recién Nacido Pequeño para la Edad Gestacional , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Pronóstico , Estudios Retrospectivos , Ultrasonografía Prenatal
11.
J Inherit Metab Dis ; 40(1): 103-112, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27853988

RESUMEN

Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses. These anomalies can be isolated, but in most cases, an IEM is suggested by an association of features. It must be stressed that the diagnosis of an IEM in the prenatal period is based on a close collaboration between specialists in fetal imaging, medicine, genetics, biology, and pathology.


Asunto(s)
Errores Innatos del Metabolismo/diagnóstico , Femenino , Humanos , Redes y Vías Metabólicas/fisiología , Embarazo , Diagnóstico Prenatal/métodos , Ultrasonografía Prenatal/métodos
13.
Fetal Diagn Ther ; 41(3): 226-233, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27409647

RESUMEN

OBJECTIVES: The aim of this study was to report the prenatal imaging findings of expanding porencephalic cyst, which have not been previously described in the prenatal period, and to underline that these lesions can involve the cerebellum and not exclusively the supratentorial structures. MATERIALS AND METHODS: This is a retrospective observational study of five cases with a prenatal diagnosis of expanding porencephalic cyst. RESULTS: The cystic lesion was located in the supra- and infratentorial space in 2 cases, respectively, or in both in one case. The lesion expanded into the pericerebral space or communicated with the ventricular system in 4 and 1 cases, respectively. Differential diagnosis included tumoural lesion in 2 cases because of internal echogenic components related to haemorrhagic changes, which were identified using foetal MRI, and arachnoid cyst in 2 cases because of expansion into the pericerebral space. In the last case, communication within the ventricular system mimicked a unilateral ventriculomegaly. CONCLUSION: Differential diagnosis of any cystic lesion with extra-axial component should include expanding porencephalic cyst. Foetal MRI is helpful to differentiate this entity from extra-axial lesions such as arachnoid cysts but also from rare tumours.


Asunto(s)
Encefalopatías/diagnóstico por imagen , Quistes/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Encefalopatías/complicaciones , Quistes/complicaciones , Diagnóstico Diferencial , Femenino , Humanos , Embarazo , Diagnóstico Prenatal/métodos , Estudios Retrospectivos
14.
J Food Sci Technol ; 54(1): 185-195, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28242916

RESUMEN

Steviolbioside (Sb) was synthesized from stevioside and characterized by infrared, nuclear magnetic resonance (1H NMR and 13C NMR) spectroscopy. The purity melting point, solubility, acute toxicity, heat stability and sensory properties of Sb were evaluated. Physico-chemical and sensory properties of low calorie fruit drinks and shortened cake prepared by replacing sugar with Sb were evaluated. Sb was stable in neutral or acidic aqueous solutions maintained at 100 °C for 2 h. The sweetness intensity rate of Sb was found to be about 44 and 18.51 times sweeter than 0.5% and 10% sucrose solution, respectively. Sb solutions had sweet taste without bitterness compared to stevioside. No significant differences between the organoleptic properties of cakes prepared using sugar and those prepared replacing sugar with 50% Sb were observed. All drinks replacing sugar with Sb at 66% level had the highest overall acceptability scores comparable to those prepared using sugar alone.

16.
Prenat Diagn ; 34(4): 394-401, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24431240

RESUMEN

OBJECTIVE: The objective of this article is to describe the diagnostic significance of prenatal identification of dilated supra-pineal recess (SPR) in cases of ventriculomegaly. METHOD: A retrospective study, based on neurosonography and magnetic resonance imaging, of a series of five prenatal cases referred to our institution because of ventriculomegaly associated with dilatation of the SPR. RESULTS: Ventriculomegaly of obstructive origin was diagnosed in all cases and related to obstruction downstream of the third ventricle. The diagnosis in the five prenatal cases, confirmed on early post-natal imaging, included the following: malformative aqueductal stenosis, ischemic-haemorrhagic parenchymal supra-tentorial insult complicated by aqueductal stenosis, Blake's pouch cyst, cystic lesion of the posterior fossa and sub-ependymal haemorrhage and Dandy-Walker malformation. In all cases, the third ventricle was prominent and associated with a dilated SPR. In two cases, the dilatation of the SPR was an early clue to e obstructive ventriculomegaly, which was initially minor and became severe on follow-up imaging. CONCLUSION: The presence of a dilated SPR prenatally in the presence of even mild ventriculomegaly should prompt evaluation and follow-up for the presence of obstructive ventriculomegaly with obstruction located downstream of the third ventricle.


Asunto(s)
Encéfalo/patología , Ecoencefalografía , Hidrocefalia/diagnóstico , Imagen por Resonancia Magnética , Tercer Ventrículo/diagnóstico por imagen , Adulto , Estudios de Cohortes , Síndrome de Dandy-Walker/diagnóstico , Síndrome de Dandy-Walker/diagnóstico por imagen , Síndrome de Dandy-Walker/patología , Femenino , Edad Gestacional , Humanos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/patología , Embarazo , Estudios Retrospectivos , Tercer Ventrículo/patología
17.
Sci Immunol ; 9(92): eadi9769, 2024 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-38207055

RESUMEN

UNC93B1 is critical for trafficking and function of nucleic acid-sensing Toll-like receptors (TLRs) TLR3, TLR7, TLR8, and TLR9, which are essential for antiviral immunity. Overactive TLR7 signaling induced by recognition of self-nucleic acids has been implicated in systemic lupus erythematosus (SLE). Here, we report UNC93B1 variants (E92G and R336L) in four patients with early-onset SLE. Patient cells or mouse macrophages carrying the UNC93B1 variants produced high amounts of TNF-α and IL-6 and upon stimulation with TLR7/TLR8 agonist, but not with TLR3 or TLR9 agonists. E92G causes UNC93B1 protein instability and reduced interaction with TLR7, leading to selective TLR7 hyperactivation with constitutive type I IFN signaling. Thus, UNC93B1 regulates TLR subtype-specific mechanisms of ligand recognition. Our findings establish a pivotal role for UNC93B1 in TLR7-dependent autoimmunity and highlight the therapeutic potential of targeting TLR7 in SLE.


Asunto(s)
Lupus Eritematoso Sistémico , Receptor Toll-Like 7 , Ratones , Animales , Humanos , Receptor Toll-Like 7/genética , Autoinmunidad/genética , Receptor Toll-Like 9/metabolismo , Receptor Toll-Like 8 , Receptor Toll-Like 3/metabolismo , Lupus Eritematoso Sistémico/genética , Proteínas de Transporte de Membrana
18.
Am J Perinatol ; 30(3): 197-200, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22875660

RESUMEN

OBJECTIVE: The Misgav-Ladach technique is recommended worldwide to perform cesarean sections but there is no consensus about the appropriate technique to use in patients with previous cesarean sections. This study evaluated the feasibility of the Misgav-Ladach technique in patients with previous cesarean sections. STUDY DESIGN: This prospective cohort study included all women undergoing cesarean section after 36 weeks of gestation over a 5-month period, with the Misgav-Ladach technique as first choice, whatever the previous number of cesarean sections. RESULTS: Among the 204 patients included, the Misgav-Ladach technique was successful in 100%, 80%, and 65.6% of patients with no, one, and multiple previous cesarean sections, respectively. When successful, the Misgav-Ladach technique was associated with a shorter incision to birth interval in patients with no previous cesarean section compared with patients with one or multiple previous cesarean sections. Anterior rectus aponeurosis fibrosis and severe peritoneal adherences were the two main reasons explaining the Misgav-Ladach technique failure. CONCLUSION: The Misgav-Ladach technique is possible in over three-fourths of patients with previous cesarean sections with a slight increase in incision to birth interval compared with patients without previous cesarean section. Further studies comparing the Misgav-Ladach and the Pfannenstiel techniques in women with previous cesarean should be done.


Asunto(s)
Cesárea Repetida/métodos , Adulto , Análisis de Varianza , Femenino , Fibrosis/complicaciones , Humanos , Embarazo , Estadísticas no Paramétricas , Factores de Tiempo , Adherencias Tisulares/complicaciones , Insuficiencia del Tratamiento
19.
Gynecol Obstet Fertil Senol ; 51(11-12): 524-530, 2023.
Artículo en Francés | MEDLINE | ID: mdl-37739067

RESUMEN

INTRODUCTION: The fetal biometrics charts recommended in France for ultrasound screening include measurements of head circumference (HC), biparietal diameter (BIP), abdominal circumference (AC) and femur length (FL). New international growth standards have been recommended since 2022. The aim of this work is to quantitatively describe the differences between these biometric curves. METHODS: The biometry curves from the French College for Fetal Ultrasound, OMS and INTERGROWTH-21 are pragmatically compared based on their original quantile regression equations (superposition and quantification of differences in millimeters and in proportion) for different percentiles of clinical interest. RESULTS: Compared with the new charts, CFEF underestimates HC<-3DS and AC<10eP. The proportions of differences between the CFEF and INTERGROWTH-21 or WHO curves always remained <5%. The proportions of difference of the 3rd percentile of HC and FL, 10th and 90th percentile of AC were always lower than 2%, 2%, 5% and 4% respectively, between OMS and INTERGROWTH-21. CONCLUSION: The switch to prescriptive standards suggests an improvement in the detection of fetuses with AC<10th percentile, an improvement in the detection of prenatal onset microcephaly, with no argument for a decrease in the detection rate of severe constitutional bone disease or modification of obstetrical guidelines.


Asunto(s)
Feto , Obstetricia , Embarazo , Femenino , Humanos , Edad Gestacional , Feto/diagnóstico por imagen , Biometría , Atención Prenatal , Ultrasonografía Prenatal
20.
Viruses ; 15(7)2023 07 14.
Artículo en Inglés | MEDLINE | ID: mdl-37515239

RESUMEN

The situation of limited data concerning the response to COVID-19 mRNA vaccinations in immunocom-promised children hinders evidence-based recommendations. This prospective observational study investigated humoral and T cell responses after primary BNT162b2 vaccination in secondary immunocompromised and healthy children aged 5-11 years. Participants were categorized as: children after kidney transplantation (KTx, n = 9), proteinuric glomerulonephritis (GN, n = 4) and healthy children (controls, n = 8). Expression of activation-induced markers and cytokine secretion were determined to quantify the T cell response from PBMCs stimulated with peptide pools covering the spike glycoprotein of SARS-CoV-2 Wuhan Hu-1 and Omicron BA.5. Antibodies against SARS-CoV-2 spike receptor-binding domain were quantified in serum. Seroconversion was detected in 56% of KTx patients and in 100% of the GN patients and controls. Titer levels were significantly higher in GN patients and controls than in KTx patients. In Ktx patients, the humoral response increased after a third immunization. No differences in the frequency of antigen-specific CD4+ and CD8+ T cells between all groups were observed. T cells showed a predominant anti-viral capacity in their secreted cytokines; however, this capacity was reduced in KTx patients. This study provides missing evidence concerning the humoral and T cell response in immunocompromised children after COVID-19 vaccination.


Asunto(s)
COVID-19 , Trasplante de Riñón , Humanos , Niño , Vacuna BNT162 , Vacunas contra la COVID-19 , COVID-19/prevención & control , SARS-CoV-2 , Inmunidad Celular , Riñón , ARN Mensajero/genética , Anticuerpos Antivirales , Vacunación , Inmunidad Humoral
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