Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study.

Background: Polycystic ovary syndrome (PCOS) is a highly prevalent endocrine-metabolic disorder in women of reproductive age. Diagnosis is based on the evidence-based international guideline 2018 and the Rotterdam Consensus to classify PCOS phenotypes. This study aims to characterize the biodemographic, clinical, metabolic, and reproductive variables and their relationship with PCOS phenotypes in a population from the Ecuadorian Andes. Methodology: A cross-sectional study was conducted with a non-random consecutive sample of 92 women who attended the outpatient gynecology and endocrinology clinic at the Hospital of the Technical University of Loja (UTPL)-Santa Inés, Loja, Ecuador, between January 2022 and July 2023. Descriptive statistics, mean calculations, standard deviation, parametric and nonparametric tests, odds ratios (OR), confidence intervals (CI), and p-values were employed. Results: The average age was 22 ± 3.4 years, with a predominantly mestizo, urban, single, highly educated, and medium-high socioeconomic level population. It was identified that phenotypes A + B are at a higher risk of developing oligomenorrhea and hypertriglyceridemia compared to phenotypes C + D, with statistically significant differences (p < 0.05). Furthermore, in terms of reproductive variables, phenotypes A + B exhibit a significantly higher frequency of elevated anti-Müllerian hormone (AMH) compared to phenotypes C + D, also with statistical significance (p < 0.05). Conclusions: The classical phenotypes A and B of PCOS are the most common in Ecuadorian Andean women and carry a higher risk of insulin resistance, anovulation, metabolic disorders, and elevated triglyceride levels compared to phenotypes C and D. Ethnic diversity and sociocultural habits influence the prevalence and clinical manifestations of these phenotypes.

Effectiveness of a Postpartum Breastfeeding Support Group Intervention in Promoting Exclusive Breastfeeding and Perceived Self-Efficacy: A Multicentre Randomized Clinical Trial.

There are numerous recognized benefits of breastfeeding; however, sociocultural, individual, and environmental factors influence its initiation and continuation, sometimes leading to breastfeeding rates that are lower than recommended by international guidelines. The aim of this study was to evaluate the effectiveness of a group intervention led by midwives supporting breastfeeding during the postpartum period in promoting exclusive breastfeeding, as well as to assess the impact of this intervention on perceived self-efficacy. This was a non-blind, multicentric, cluster-randomized controlled trial. Recruitment started October 2021, concluding May 2023. A total of 382 women from Andalusia (Spain) participated in the study. The results showed that at 4 months postpartum there was a higher prevalence of breastfeeding in the intervention group compared to formula feeding (p = 0.01), as well as a higher prevalence of exclusive breastfeeding (p = 0.03), and also at 6 months (p = 0.01). Perceived self-efficacy was similar in both groups for the first two months after delivery, which then remained stable until 4 months and decreased slightly at 6 months in both groups (p = 0.99). The intervention improved the average scores of perceived self-efficacy and indirectly caused higher rates of exclusive breastfeeding (p = 0.005). In conclusion, the midwife-led group intervention supporting breastfeeding proved to be effective at maintaining exclusive breastfeeding at 6 months postpartum and also at increasing perceived self-efficacy.

Evaluation of the Impact of a Midwife-Led Breastfeeding Group Intervention on Prevention of Postpartum Depression: A Multicentre Randomised Clinical Trial.

Postpartum depression is a significant health issue affecting both mothers and newborns during the postpartum period. Group support interventions during this period have proven effective in helping women cope with depression and improving breastfeeding rates. This study aimed to assess the effectiveness of a midwife-led breastfeeding support group intervention on breastfeeding rates, postpartum depression and general self-efficacy. This was a multicentric cluster randomised controlled trial with control and intervention groups and was not blinded. It was conducted in Andalusia (southern Spain) from October 2021 to May 2023. A total of 382 women participated in the study. The results showed a significant difference in exclusive breastfeeding rates at 4 months postpartum between the groups (control 50% vs. intervention 69.9%; p < 0.001). Additionally, there was a lower mean score on the Edinburgh Postnatal Depression Scale in the intervention group (12.49 ± 3.6 vs. 13.39 ± 4.0; p = 0.044). Similarly, higher scores of general self-efficacy were observed among breastfeeding women at 2 and 4 months postpartum (77.73 ± 14.81; p = 0.002 and 76.46 ± 15.26; p < 0.001, respectively). In conclusion, midwife-led breastfeeding support groups enhanced self-efficacy, prolonged breastfeeding and reduced postpartum depression 4 months after giving birth.

Alcohol Consumption Assessed by a Biomarker and Self-Reported Drinking in a Sample of Pregnant Women in the South of Europe: A Comparative Study.

(1) Background: Alcohol consumption during pregnancy is a major concern, particularly in Europe and North America. Its prevalence has so far been under-researched. In most studies, the determination of this consumption may be underestimated, as it is based on the information obtained from questionnaires rather than from biomarkers, which will provide a much more reliable approach. The main objective of this study was to compare the prevalence of consumption during pregnancy as assessed by a questionnaire and a hair biomarker. (2) Method: A cross-sectional study with a random sample of 425 pregnant women treated in public hospital consultations in Seville (Spain) and in the 20th week of their pregnancy, orally interviewed using an elaborated ad hoc questionnaire that evaluated variables of sociodemographic, obstetric, and alcohol consumption. Furthermore, the ethyl glucuronide metabolite (EtG) was tested on a hair sample in 252 pregnant women who agreed to facilitate it. Once the data obtained through the questionnaire and hair test were analyzed, the level of metabolites and self-reported alcohol consumption were compared. (3) Results: The prevalence of self-reported alcohol consumption (questionnaire) was 20.7%, and the real consumption (metabolite analysis) was 20.2%. In 16.8% of pregnant women who declared not consuming alcohol during their pregnancy, noticeable consumption was detected according to the metabolite test. No relevant level of variability in estimated alcohol consumption was detected in the biomarker with respect to the sociodemographic and obstetric variables studied. (4) Conclusions: The prevalence of alcohol consumption during pregnancy obtained through both questionnaires and metabolite analyses was similar and high. There is no association between consumption and sociodemographic factors in this sample. The determination of consumption through biomarkers allows for a more accurate approximation of the prevalence of consumption than estimated through questionnaires. Larger sample-sized studies are needed to determine consumption patterns and thus guide the adoption of more precise policies fostering abstinence from alcohol consumption since the preconception period.

Duplicidad intestinal y diagnóstico diferencial prenatal de lesiones quísticas intraabdominales / Intestinal duplication and prenatal differential diagnosis of intra-abdominal cysts

Resumen ANTECEDENTES: Las duplicaciones del aparato digestivo son una variante poco frecuente de malformación congénita. Si bien la mejora de los equipos de ecografía ha aumentado la tasa diagnóstica, solo el 30% se diagnostican antes del nacimiento. El diagnóstico diferencial de lesiones quísticas intraabdominales es amplio e incluye, por ejemplo, a los quistes de ovario, colédoco, mesenterio o pseudoquistes de meconio. El tratamiento es quirúrgico mediante la resección y restauración de la continuidad intestinal. CASO CLÍNICO: Paciente de 32 años, con un embarazo previo y en el segundo trimestre del actual, con sospecha de un quiste de duplicación intestinal. El estudio genético no evidenció anomalía alguna. La lesión, de morfología quística tubular, fue aumentando progresivamente de tamaño conforme avanzaban las semanas de embarazo. En la semana 39 se indicó, por diabetes gestacional insulinodependiente, la inducción del parto. Nació un varón, asintomático, mediante parto eutócico, sin complicaciones. La ecografía abdominal, resonancia magnética nuclear y estudio del tránsito intestinal del periodo neonatal temprano confirmó el diagnóstico prenatal de sospecha. Mediante una laparoscopia exploradora, a las dos semanas de vida se practicó la resección del defecto que se reportó como: duplicación intestinal ileal, sin comunicación con la luz intestinal. El curso posoperatorio fue favorable. CONCLUSIONES: El diagnóstico prenatal de quistes de duplicación en el aparato digestivo está en aumento debido a la mejoría en las técnicas de diagnóstico prenatal. La valoración multidisciplinaria es decisiva para procurar una adecuada vigilancia médica del embarazo y del recién nacido.

Abstract BACKGROUND: Duplications of the digestive tract are a rare variant of congenital malformation that can occur anywhere in the digestive tract. Although improved ultrasound equipment has increased the diagnostic rate, only 30% are diagnosed before birth. The differential diagnosis of intra-abdominal cystic lesions is broad and includes, for example, cysts of the ovary, common bile duct, mesentery or meconium pseudocysts. Treatment is surgical by resection and restoration of intestinal continuity. CLINICAL CASE: 32-year-old patient, with a previous pregnancy and in the second trimester of the current pregnancy, with suspicion of an intestinal duplication cyst. The genetic study did not reveal any abnormality. The lesion, of tubular cystic morphology, progressively increased in size as the weeks of pregnancy progressed. Induction of labour was indicated in week 39 due to insulin-dependent gestational diabetes. An asymptomatic male was born by euthecological delivery, without complications. Abdominal ultrasound, nuclear magnetic resonance imaging and intestinal transit study of the early neonatal period confirmed the suspected prenatal diagnosis. By means of exploratory laparoscopy, at two weeks of life, resection of the defect was performed, which was reported as: ileal intestinal duplication, without communication with the intestinal lumen. The postoperative course was favourable. CONCLUSIONS: Prenatal diagnosis of duplication cysts in the digestive tract is increasing due to improved prenatal diagnostic techniques. Multidisciplinary assessment is crucial to ensure adequate medical surveillance of the pregnancy and the newborn.

Does a High-Risk (>1/50) Result for First-Trimester Combined Screening Always Entail Invasive Testing? Which Patients from This Group Might Benefit from cfDNA Testing?

Currently, cell-free DNA (cfDNA) is offered as part of a contingent screening for patients with a first-trimester combined test (FCT) risk between 1/50 and 1/250. However, most aneuploidies are within the group of patients with a risk above 1/10. An observational, retrospective, and multi-centric study was carried out, to evaluate the theorical performance of lowering the cut-off point for the high-risk group from 1/50 to 1/10. Out of the 25,920 patients included, 25,374 (97.9%) consented to the cfDNA contingent screening for aneuploidies. With the proposed strategy, knowing that the detection rate (DR) of cfDNA testing for trisomy 21 is 99.7%, the DR for trisomy 21 would have stayed in a 93.2%, just as it was with the current strategy. In this instance, 267 (1.1%) invasive tests would have been performed, while the current strategy had a total of 307 (1.2%). The false positive rate (FPR) rate would have stayed at 5.2% in both scenarios. In conclusion, the contingent screening of aneuploidies based in the result of the FCT, offering the analysis of cfDNA to patients with an intermediate risk after lowering the cut-off point from 1/50 to 1/10, is a valid alternative that might maintain the current detection rates and avoid the complications associated with invasive testing.

Inducción de la lactancia en parejas femeninas de mujeres embarazadas cuya gestación se ha obtenido mediante el método ROPA (Recepción de Ovocitos de la Pareja). Aproximación a través de un caso clínico / Lactation induction in female partners of pregnant women undergoing ROPAmethod. A clinical case

La aceptación en la sociedad de parejas homosexuales como nueva estructura familiar ha favorecidoun importante desarrollo en las terapias de reproducción asistida, como el método de Recepción de Ovo-citos de la Pareja (ROPA). La necesidad de mantener el vínculo, no sólo a nivel gestacional sino tambiénen el proceso de la lactancia materna ha favorecido el interés por la inducción de la lactancia en madresno gestantes. Sin embargo, no existe evidencia publicada con respecto la inducción de la lactancia enpacientes como las que se presentan en el caso, sometidas a esta técnica reproductiva. La inducción dela lactancia puede llevarse a cabo mediante métodos farmacológicos, métodos mecánicos, o la combi-nación de ambos. (AU)

The approval and normalization of homosexual couples as a new family structure in our society has benefited an importantdevelopment in assisted reproduction therapies, such as the ROPA method (reception of oocytes from the couple). Theneed to maintain the link in the process of breastfeeding has favored interest in inducing breastfeeding in non-pregnantwomen.However, there is no published evidence regarding the induction of breastfeeding in patients presented in our clinic case,subjected to reproductive techniques.Breastfeeding induction can be carried out by pharmacological methods or mechanical methods, based on breast stimu-lation techniques. (AU)

Relationship between Eating Habits, Physical Activity and Tobacco and Alcohol Use in Pregnant Women: Sociodemographic Inequalities.

Pregnant women must maintain or acquire healthy habits during pregnancy to protect both their own health and their child's. Such habits include an adequate eating pattern along with good adherence to the intake of certain supplements, practice of moderate physical activity and avoiding the consumption of toxic products such as tobacco and alcohol. The objective of this study is to assess the interrelation between such habits and their association with sociodemographic variables. To such end, a cross-sectional study was conducted with a representative sample of pregnant women who attended the scheduled morphology echography consultation at the 20th gestational week in their reference public hospital in the city of Seville (Spain). Results: Younger pregnant women and with lower educational levels are the ones that present the worst eating habits and the highest smoking rate. Pregnant women with lower educational levels are the least active. Non-smoking pregnant women present better eating habits than those who smoke. Pregnant women with lower educational levels are those who accumulate more unhealthy habits during pregnancy. This should be taken into account when planning the health care provided to pregnant women and in public health intersectoral policies.

Corea gravídica secundaria a síndrome antifosfolipídico: reporte de un caso y revisión de la bibliografía / Chorea gravidarum secondary to Antiphospholipid Syndrome: Report of a case and review of the literature

Resumen ANTECEDENTES: La incidencia de la corea gravídica es de 1 caso por cada 2275 embarazos. El diagnóstico diferencial se establece con distintas enfermedades neurológicas. El tratamiento de la causa subyacente implica la curación espontánea del cuadro clínico. OBJETIVO: Reportar el caso de una paciente que inició con corea gravídica secundaria a síndrome antifosfolipídico y revisar la bibliografía al respecto. CASO CLÍNICO: Paciente de 37 años, con 28 semanas de embarazo, que consultó por alteraciones del comportamiento. Los estudios de laboratorio reportaron anticuerpos antifosfolipídicos y anti-beta 2 glicoproteína elevados en dos determinaciones separadas por 12 semanas, con ANCA y ANA negativos. En la resonancia magnética cerebral no se informaron hallazgos patológicos. Se estableció el diagnóstico de corea gravídica, secundaria a síndrome antifosfolipídico. La reacción al tratamiento con anticoagulantes y corticosteroides fue satisfactoria; en la actualidad, la paciente permanece asintomática y sin tratamiento. CONCLUSIONES: Las pruebas analíticas y de neuroimagen son útiles para establecer el origen de la corea. El tratamiento con anticoagulantes se indica para prevenir eventos trombóticos en pacientes con corea secundaria a síndrome antifosfolipídico. La eficacia de los corticosteroides en el control de los síntomas neurológicos es variable; no obstante, la paciente del caso tuvo una reacción favorable y desaparición completa de los síntomas.

Abstract BACKGROUND: Chorea gravidarum has an estimated incidence of 1:2275 pregnancies. The differential diagnosis of this entity characterized by involuntary spontaneous movements together with behavioral alterations but be made with different neurological diseases. Generally, treatment of the underlying cause involves spontaneous cure of the condition. OBJETIVES: To report the case of a patient who debuted with a chorea gravidarum secondary to antiphospholipid syndrome and to review the literature. CASE DESCRIPTION: 37-years-old patient, 28 weeks pregnant, who consulted for behavioral alterations. Laboratory test showed elevated anti phospholipid and anti-beta 2 glycoprotein antibodies in two determinations 12 weeks apart, with negative ANCA and ANA. There was no pathological finding in brain magnetic resonance. She was diagnosed with corea gravidarum secondary to antiphospholipid syndrome. She was treated effectively with anticoagulants and corticosteroids, and is currently asymptomatic and without treatment. CONCLUSIONS: Analytical and neuroimaging tests are helpful in establishing the etiology of chorea. anticoagulants are indicated to prevent thrombotic events in chorea secondary to antiphospholipid syndrome. Corticosteroids have variable efficacy in the control of neurological symptoms, although in our case complete remission of the symptoms will be overcome.

Impact and Effectiveness of Group Strategies for Supporting Breastfeeding after Birth: A Systematic Review.

Despite the multiple benefits of breastfeeding both for the mother and for the infant, during the first months there is a progressive decline in the number of mothers who continue breastfeeding, with most countries reporting lower than recommended figures. The objective of this review is to analyse the most effective group support practices for breastfeeding, as well as the characteristics associated to their success in maintaining breastfeeding. A systematic review has been conducted in the 2015-2020 period, in the following databases: MedLine, Scopus, Web of Science, Cumulative Index to Nursing and Allied Health Literature, Cochrane Library and LILACS. The findings were summarized in narrative and table formats. A total of thirteen articles were included, eight of them being experimental studies and five observational. The findings show high heterogeneity regarding the characteristics of the interventions and their periodicity. The most successful group strategies to support and maintain breastfeeding during postpartum are those that combine peer support with the leadership or counselling of a health professional or IBCLC. However, more studies are necessary, randomized and with interventions of similar characteristics, which allow for better data comparison.

Health advice on alcohol consumption in pregnant women in Seville (Spain) / Consejo sanitario sobre el consumo de alcohol en embarazadas de Sevilla (España)

OBJECTIVE: To analyse to what extent pregnant women remembered having received health advice regarding alcohol consumption during pregnancy, what the message they perceived was and whether there is social inequality in this regard. METHOD: A cross-sectional descriptive study was performed with a sample of 426 pregnant women (in their 20th week of pregnancy) receiving care in the outpatient clinics of a university hospital in a southern Spanish city (Seville). The data were collected through face-to-face structured interviews carried out by trained health professionals. RESULTS: 43% of the interviewed women stated that they had not received any health advice in this regard. Only 43.5% of the sample remembered having received the correct message (not to consume any alcohol at all during pregnancy) from their midwife, 25% from their obstetrician and 20.3% from their general practitioner. The women with a low educational level were those who least declared having received health advice on the issue. CONCLUSION: The recommended health advice to avoid alcohol consumption during pregnancy does not effectively reach a large proportion of pregnant women. Developing institutional programmes which help healthcare professionals to carry out effective preventive activities of foetal alcohol spectrum disorder is needed

OBJETIVO: Analizar en qué medida las gestantes recuerdan haber recibido asesoramiento sanitario sobre el consumo de alcohol durante el embarazo, cuál es el mensaje percibido y si existe desigualdad social al respecto. MÉTODO: Se realizó un estudio transversal descriptivo con 426 mujeres en su semana 20 de embarazo en las consultas externas de un hospital universitario de Sevilla (España). Los datos se recopilaron mediante entrevistas estructuradas cara a cara realizadas por profesionales sanitarias entrenadas. RESULTADOS: El 43% de las entrevistadas afirmaron no haber recibido consejo sanitario alguno al respecto. Solo el 43,5% dijeron que habían recibido el mensaje correcto (no beber absolutamente nada de alcohol durante el embarazo) por parte de la matrona, el 25% por el obstetra y el 20,3% por el médico de atención primaria. Las embarazadas con menor nivel educativo fueron las que menos refirieron haber recibido asesoramiento sanitario sobre el tema. CONCLUSIÓN: El consejo sanitario adecuado (evitar todo consumo de alcohol durante el embarazo) no llega de manera efectiva a una amplia proporción de las gestantes. Es necesario desarrollar programas institucionales que posibiliten que los profesionales sanitarios puedan llevar a cabo con eficacia actividades preventivas de los trastornos del espectro alcohólico fetal

Understanding the Relationship between Predictors of Alcohol Consumption in Pregnancy: Towards Effective Prevention of FASD.

BACKGROUND: Prenatal alcohol exposure can produce serious changes in neurodevelopment that last a lifetime, as well as a wide range of congenital abnormalities, and is the main non-hereditary, avoidable cause of intellectual disability in developed countries. It is therefore crucial to understand the determinants of alcohol consumption during pregnancy. This study is aimed at determining the factors that predict it, as well as the interactions between them. METHODS: A cross-sectional study was carried out using a random sample of 426 pregnant women being treated at the outpatient clinic of a public university hospital in Seville (Spain), when they were in their twentieth week of pregnancy. A custom-designed questionnaire was used for data collection and applied in the course of an interview administered by trained health professionals. The data collected were analyzed using hierarchical regression, moderation analysis, and a structural equations model. RESULTS: Alcohol consumption prior to pregnancy proved to be the most powerful predictor of alcohol intake during pregnancy. Other particularly significant predictors were the percentage of professionals who gave correct advice to the expectant mother-not to consume any alcohol during pregnancy-and perception of the risk from drinking wine during pregnancy. The number of pregnancies correlates positively with alcohol intake during pregnancy, while the expectant mother's level of education correlates negatively. CONCLUSIONS: Identifying these predictive factors will allow the design of more effective fetal alcohol spectrum disorder (FASD) prevention strategies.

Health advice on alcohol consumption in pregnant women in Seville (Spain).

OBJECTIVE: To analyse to what extent pregnant women remembered having received health advice regarding alcohol consumption during pregnancy, what the message they perceived was and whether there is social inequality in this regard. METHOD: A cross-sectional descriptive study was performed with a sample of 426 pregnant women (in their 20th week of pregnancy) receiving care in the outpatient clinics of a university hospital in a southern Spanish city (Seville). The data were collected through face-to-face structured interviews carried out by trained health professionals. RESULTS: 43% of the interviewed women stated that they had not received any health advice in this regard. Only 43.5% of the sample remembered having received the correct message (not to consume any alcohol at all during pregnancy) from their midwife, 25% from their obstetrician and 20.3% from their general practitioner. The women with a low educational level were those who least declared having received health advice on the issue. CONCLUSION: The recommended health advice to avoid alcohol consumption during pregnancy does not effectively reach a large proportion of pregnant women. Developing institutional programmes which help healthcare professionals to carry out effective preventive activities of foetal alcohol spectrum disorder is needed.

Pregnant Women's Risk Perception of the Teratogenic Effects of Alcohol Consumption in Pregnancy.

There is ample evidence of the teratogenic effects of prenatal alcohol exposure, with long-term consequences throughout the entire life cycle. Nevertheless, research on risk perception of alcohol consumption among pregnant women is scarce. In order to analyze risk perception of alcohol consumption during pregnancy, a cross-sectional study was conducted with a random sample of 426 pregnant women (in their 20th week of gestation) receiving care at the outpatient clinics of a public university hospital in the southern European city of Seville (Spain). Data were collected through structured face-to-face interviews conducted by trained health professionals using a customized questionnaire. Data analysis included structural equation modeling. Only 48.1% of the sample indicated that the sequelae from alcohol consumption during pregnancy were life-long. The structural equation model showed that a lower risk perception about beer and wine consumption, and a lower educational level, were related to more frequent alcohol consumption. Younger participants showed lower risk perception concerning beer consumption. Higher levels of education were related to a greater risk perception of beer. Healthcare institutions should articulate programs that facilitate health advice regarding alcohol consumption during pregnancy, particularly when providing care for women with low educational levels.

Crecimiento intrauterino restringido como síntoma guía para el diagnóstico genético prenatal del síndrome de Wolf-Hirschhorn en gestación gemelar bicorial biamniótica / Restricted Intrauterine Growth as a Guiding Symptom for Prenatal Genetic Diagnosis of Wolf-Hirschhorn Syndrome in Bicorial Diamniotic Twin Gestation

El síndrome de Wolf Hirschhorn, también conocido como monosomía del brazo corto del cromosoma 4 (4p) o síndrome 4p-, es una rara enfermedad genética descrita por primera vez en el año 1961 por los doctores Cooper y Hirschhorn. El objetivo del trabajo es presentar un caso clínico sobre el síndrome de Wolf-Hirschhorn, que es un trastorno genético raro y aún bastante desconocido que cursa con múltiples anomalías morfológicas congénitas, así como con un retraso neurológico e intelectual de grado variable. La prevalencia de este síndrome es extremadamente baja, teniendo en cuenta que la cifra puede estar infraestimada, dada las pérdidas gestacionales precoces y la dificultad en el diagnóstico prenatal. Reportamos el caso de una paciente con gestación gemelar bicorial biamniótica tras un ciclo de FIV-ICSI, en el que al segundo gemelo se diagnosticó un Síndrome de Wolf-Hirschhorn, luego del estudio por una discordancia de pesos estimados y crecimiento intrauterino restringido de este segundo feto. El patrón clásico de presentación clínica se caracteriza por el desarrollo de alteraciones craneofaciales importantes, retraso en el crecimiento normal tanto prenatal como posnatal y deficiencia mental e intelectual de grado variable. El diagnóstico prenatal debe ser realizado por expertos. Puede sospecharse por un crecimiento intrauterino restringido, ya que se da en 80-90 por ciento de los fetos con esta patología. Una vez diagnosticado, se recomienda el estudio genético de los padres, dado que hasta 15 por ciento de los progenitores pueden padecer un reordenamiento cromosómico equilibrado en el brazo corto del cromosoma 4(AU)

Wolf Hirschhorn syndrome, also known as monosomy of the short arm of chromosome 4 (4p) or 4p-syndrome, is a rare genetic disorder first described in 1961 by doctors Cooper and Hirschhorn. The prevalence of this syndrome is extremely low, taking into account that the figure may be underestimated given the early gestational losses and the difficulty in prenatal diagnosis. The objective of the study is to present a clinical case of Wolf-Hirschhorn syndrome, presenting with multiple congenital morphological anomalies, as well as a neurological and intellectual retardation of variable degree. We report the case of a patient with a bicorial biamniotic twin gestation after a cycle of IVF-ICSI. The second twin was diagnosed with a Wolf-Hirschhorn syndrome, after performing the corresponding study due to a discordance of estimated weights and restricted intrauterine growth of this second fetus. The development of important craniofacial alterations, delay of normal prenatal and postnatal growth, and mental and intellectual deficiency of variable degree characterize the classic clinical presentation. Experts must make prenatal diagnosis. Wolf-Hirschhorn syndrome can be suspected by a restricted intrauterine growth, as it occurs in 80-90 percent of fetuses with this pathology. Once diagnosed, the genetic study of the parents is recommended, since up to 15 percent of the parents can suffer a balanced chromosomal rearrangement in the short arm of chromosome 4(AU)

Crecimiento intrauterino restringido como síntoma guía para el diagnóstico genético prenatal del síndrome de Wolf-Hirschhorn en gestación gemelar bicorial biamniótica / Restricted Intrauterine Growth as a Guiding Symptom for Prenatal Genetic Diagnosis of Wolf-Hirschhorn Syndrome in Bicorial Diamniotic Twin Gestation

El síndrome de Wolf Hirschhorn, también conocido como monosomía del brazo corto del cromosoma 4 (4p) o síndrome 4p-, es una rara enfermedad genética descrita por primera vez en el año 1961 por los doctores Cooper y Hirschhorn. El objetivo del trabajo es presentar un caso clínico sobre el síndrome de Wolf-Hirschhorn, que es un trastorno genético raro y aún bastante desconocido que cursa con múltiples anomalías morfológicas congénitas, así como con un retraso neurológico e intelectual de grado variable. La prevalencia de este síndrome es extremadamente baja, teniendo en cuenta que la cifra puede estar infraestimada, dada las pérdidas gestacionales precoces y la dificultad en el diagnóstico prenatal. Reportamos el caso de una paciente con gestación gemelar bicorial biamniótica tras un ciclo de FIV-ICSI, en el que al segundo gemelo se diagnosticó un Síndrome de Wolf-Hirschhorn, luego del estudio por una discordancia de pesos estimados y crecimiento intrauterino restringido de este segundo feto. El patrón clásico de presentación clínica se caracteriza por el desarrollo de alteraciones craneofaciales importantes, retraso en el crecimiento normal tanto prenatal como posnatal y deficiencia mental e intelectual de grado variable. El diagnóstico prenatal debe ser realizado por expertos. Puede sospecharse por un crecimiento intrauterino restringido, ya que se da en 80-90 por ciento de los fetos con esta patología. Una vez diagnosticado, se recomienda el estudio genético de los padres, dado que hasta 15 por ciento de los progenitores pueden padecer un reordenamiento cromosómico equilibrado en el brazo corto del cromosoma 4(AU)

Wolf Hirschhorn syndrome, also known as monosomy of the short arm of chromosome 4 (4p) or 4p-syndrome, is a rare genetic disorder first described in 1961 by doctors Cooper and Hirschhorn. The prevalence of this syndrome is extremely low, taking into account that the figure may be underestimated given the early gestational losses and the difficulty in prenatal diagnosis. The objective of the study is to present a clinical case of Wolf-Hirschhorn syndrome, presenting with multiple congenital morphological anomalies, as well as a neurological and intellectual retardation of variable degree. We report the case of a patient with a bicorial biamniotic twin gestation after a cycle of IVF-ICSI. The second twin was diagnosed with a Wolf-Hirschhorn syndrome, after performing the corresponding study due to a discordance of estimated weights and restricted intrauterine growth of this second fetus. The development of important craniofacial alterations, delay of normal prenatal and postnatal growth, and mental and intellectual deficiency of variable degree characterize the classic clinical presentation. Experts must make prenatal diagnosis. Wolf-Hirschhorn syndrome can be suspected by a restricted intrauterine growth, as it occurs in 80-90 percent of fetuses with this pathology. Once diagnosed, the genetic study of the parents is recommended, since up to 15 percent of the parents can suffer a balanced chromosomal rearrangement in the short arm of chromosome 4(AU)

Influence of a pelvic floor training programme to prevent perineal trauma: A quasi-randomised controlled trial.

BACKGROUND: perineal injury is common after birth and may be caused by tears or episiotomy or both. Perineal massage has been shown to prevent episiotomies in primiparous women. On the other hand, pelvic floor exercises might have an influence by shortening the first and second stages of labour in the primigravida. AIM: the aim of this study was to investigate the effects of a pelvic floor training following a birth programme on perineal trauma. DESIGN: a single-blind quasi-randomized controlled trial with two groups: standard care and intervention. SETTING: a tertiary, metropolitan hospital in Seville, Spain. PARTICIPANTS: women (n=466) who were 32 weeks pregnant, having a singleton pregnancy and anticipating a normal birth were randomised. Women in the experimental groups were asked to perform a pelvic floor training programme that included: daily perineal massage and pelvic floor exercises from 32 weeks of pregnancy until birth. They were allocated to an intervention group by clusters (antenatal education groups) randomized 1:1. The control group had standard care that did not involve a perineal/pelvic floor intervention. These women were collected in a labour ward at admission 1:3 by midwives. RESULTS: outcomes were analysed by intention-to-treat. Women assigned to the perineal/pelvic floor intervention showed a 31.63% reduction in episiotomy (50.56% versus 82.19%, p<0.001) and a higher likelihood of having an intact perineum (17.61% versus 6.85%, p<0.003). There were also fewer third (5.18% versus 13.12%, p<0.001) and fourth degree-tears (0.52% versus 2.5%, p<0.001). Women allocated to the intervention group also had less postpartum perineal pain (24.57% versus 36.30%, p<0.001) and required less analgesia in the postnatal period (21.14% versus 30.82%, p<0.001). CONCLUSIONS: a training programme composed of pelvic floor exercises and perineal massage may prevent episiotomies and tears in primiparous women. This programme can be recommended to primiparous women in order to prevent perineal trauma. KEY CONCLUSION: the pelvic floor programme was associated with significantly lower rates of episiotomies and severe perineal trauma; and higher intact perineum when compared with women who received standard care only. IMPLICATIONS FOR PRACTICE: the programme is an effective intervention that we recommend to all women at 32nd week of pregnancy to prevent perineal trauma.

Éxitus materno tras cesárea en gestante con anomalía de Taussig-Bing y síndrome de Eisenmenger / Maternal Exitus after Cesarean Section in Pregnant Women with Taussig-Bing Anomaly and Eisenmenger Syndrome

La anomalía de Taussig-Bing es una cardiopatía congénita cianosante caracterizada por la dextrotransposición de grandes vasos. Esta produce una doble salida arterial desde el ventrículo derecho, asociado a una comunicación interventricular. Este cuadro puede generar una hipertensión pulmonar secundaria al aumento de las resistencias vasculares y un flujo reverso cardiaco, conocido como síndrome de Eisenmenger. Normalmente, se presenta antes de la pubertad, aunque en ocasiones, puede debutar en la vida adulta, progresando durante dicha etapa. Clínicamente, se caracteriza por rasgos crónicos, como las acropaquias, la disnea, la sensación de cansancio o la cianosis. El diagnóstico de este tipo de cardiopatías se basa en la clínica y en las pruebas de imagen, preferentemente en el estudio ecocardiográfico fetal o durante la edad pediátrica. El tratamiento de elección es la corrección quirúrgica de las malformaciones cardiacas, siendo preferente la rectificación de la salida de la aorta y el cierre de la comunicación interventricular. El pronóstico depende del grado de hipertensión pulmonar, del momento del diagnóstico y de la corrección quirúrgica precoz. A edades tempranas se obtiene un mejor resultado, aunque las tasas de mortalidad alcanzan 50 % en algunos casos, incluso tras una corrección quirúrgica óptima. La gestación no está recomendada en pacientes que padecen dicha patología, la cual se ha contraindicado, según algunos estudios, en ausencia de tratamiento adecuado. Así pues, describimos un caso en el que una gestante con una anomalía Taussig-Bing sufre una atonía uterina y un posterior paro cardiorrespiratoria tras el parto, realizado mediante cesárea electiva, tras la que la paciente falleció(AU)

The Taussig-Bing anomaly is a congenital cyanosis characterized by the dextrotransposition of large vessels. It produces a double arterial exit from the right ventricle, associated with an interventricular communication. This may lead to pulmonary hypertension secondary to increased vascular resistance and a cardiac reverse flow, known as Eisenmenger syndrome. Generally, it occurs before puberty, although occasionally, it can debut in adults, progressing during that stage. It is clinically characterized by chronic features, such as acropachies, dyspnea, tiredness or cyanosis. The diagnosis of this type of heart disease is based on clinical exam and imaging tests, if at all possible in the fetal echocardiographic study or during the pediatric age. The surgical correction of cardiac malformations is the treatment of choice, modifying the aortic exit and closing of ventricular septal defect. The prognosis depends on the degree of pulmonary hypertension, the time of diagnosis, and the early surgical correction. Better outcome is obtained at early ages, although mortality rates reach 50% in some cases, even after optimal surgical correction. Pregnancy is not recommended in patients suffering from this disease. Some studies contraindicate pregnancy in absence of proper treatment. Thus, we describe a case of a pregnant woman with a Taussig-Bing anomaly, who suffered uterine atony and a subsequent cardiorespiratory arrest after delivery. Elective cesarean section was performed. This patient died(AU)

Éxitus materno tras cesárea en gestante con anomalía de Taussig-Bing y síndrome de Eisenmenger / Maternal Exitus after Cesarean Section in Pregnant Women with Taussig-Bing Anomaly and Eisenmenger Syndrome

La anomalía de Taussig-Bing es una cardiopatía congénita cianosante caracterizada por la dextrotransposición de grandes vasos. Esta produce una doble salida arterial desde el ventrículo derecho, asociado a una comunicación interventricular. Este cuadro puede generar una hipertensión pulmonar secundaria al aumento de las resistencias vasculares y un flujo reverso cardiaco, conocido como síndrome de Eisenmenger. Normalmente, se presenta antes de la pubertad, aunque en ocasiones, puede debutar en la vida adulta, progresando durante dicha etapa. Clínicamente, se caracteriza por rasgos crónicos, como las acropaquias, la disnea, la sensación de cansancio o la cianosis. El diagnóstico de este tipo de cardiopatías se basa en la clínica y en las pruebas de imagen, preferentemente en el estudio ecocardiográfico fetal o durante la edad pediátrica. El tratamiento de elección es la corrección quirúrgica de las malformaciones cardiacas, siendo preferente la rectificación de la salida de la aorta y el cierre de la comunicación interventricular. El pronóstico depende del grado de hipertensión pulmonar, del momento del diagnóstico y de la corrección quirúrgica precoz. A edades tempranas se obtiene un mejor resultado, aunque las tasas de mortalidad alcanzan 50 por ciento en algunos casos, incluso tras una corrección quirúrgica óptima. La gestación no está recomendada en pacientes que padecen dicha patología, la cual se ha contraindicado, según algunos estudios, en ausencia de tratamiento adecuado. Así pues, describimos un caso en el que una gestante con una anomalía Taussig-Bing sufre una atonía uterina y un posterior paro cardiorrespiratoria tras el parto, realizado mediante cesárea electiva, tras la que la paciente falleció(AU)

The Taussig-Bing anomaly is a congenital cyanosis characterized by the dextrotransposition of large vessels. It produces a double arterial exit from the right ventricle, associated with an interventricular communication. This may lead to pulmonary hypertension secondary to increased vascular resistance and a cardiac reverse flow, known as Eisenmenger syndrome. Generally, it occurs before puberty, although occasionally, it can debut in adults, progressing during that stage. It is clinically characterized by chronic features, such as acropachies, dyspnea, tiredness or cyanosis. The diagnosis of this type of heart disease is based on clinical exam and imaging tests, if at all possible in the fetal echocardiographic study or during the pediatric age. The surgical correction of cardiac malformations is the treatment of choice, modifying the aortic exit and closing of ventricular septal defect. The prognosis depends on the degree of pulmonary hypertension, the time of diagnosis, and the early surgical correction. Better outcome is obtained at early ages, although mortality rates reach 50 percent in some cases, even after optimal surgical correction. Pregnancy is not recommended in patients suffering from this disease. Some studies contraindicate pregnancy in absence of proper treatment. Thus, we describe a case of a pregnant woman with a Taussig-Bing anomaly, who suffered uterine atony and a subsequent cardiorespiratory arrest after delivery. Elective cesarean section was performed. This patient died(AU)

Mechanisms involved in p53 downregulation by leptin in trophoblastic cells.

Leptin, a 16-kDa polypeptide hormone, is produced by the adipocyte and can also be synthesized by placenta. We previously demonstrated that leptin promotes proliferation and survival in placenta, in part mediated by the p53 pathway. In this work, we investigated the mechanisms involved in leptin down-regulation of p53 level. The human first trimester cytotrophoblastic Swan-71 cell line and human placental explants at term were used. In order to study the late phase of apoptosis, triggered by serum deprivation, experiments of DNA fragmentation were carried out. Exogenous leptin added to human placental explants, showed a decrease on DNA ladder formation and MAPK pathway is involved in this leptin effect. We also found that under serum deprivation condition, leptin decreases p53 levels and the inhibitory leptin effect is lost when cells were pretreated with 50 µM PD98059 or 10 µM LY29004; or were transfected with dominant negative mutants of intermediates of these pathways, suggesting that MAPK and PI3K signaling pathways are necessaries for leptin action. Additionally, leptin diminished Ser-46 p53 phosphorylation and this effect in placental explants was mediated by the activation of MAPK and PI3K pathways. Finally, in order to assess leptin effect on p53 half-life experiments with cycloheximide were performed and MDM-2 expression was analyzed. Leptin diminished p53 half-life and up-regulated MDM-2 expression. In summary, we provided evidence suggesting that leptin anti-apoptotic effect is mediated by MAPK and PI3K pathways.