Emerging role of miRNAs, lncRNAs, and circRNAs in pregnancy-associated diseases / 中华医学杂志(英文版)

Accumulating studies have demonstrated that non-coding RNAs (ncRNAs), functioning as important regulators of transcription and translation, are involved in the establishment and maintenance of pregnancy, especially the maternal immune adaptation process. The endometrial stromal cells (ESCs), trophoblast cells, and decidua immune cells that reside at the maternal-fetal interface are thought to play significant roles in normal pregnancy and pregnancy-associated diseases. Here, we reviewed the up-to-date evidence on how microRNA, long non-coding RNA, and circular RNA regulate ESCs, trophoblast cells, and immune cells and discussed the potential applications of these ncRNAs as diagnostic and therapeutic markers in pregnancy complications.

Reducción embrionaria en embarazo gemelar / Embryo reduction in twin pregnancy

La reducción embrionaria es la interrupción selectiva del desarrollo de uno o varios fetos en el primer trimestre del embarazo. El embarazo gemelar se presenta aproximadamente en uno de cada 100 nacimientos y se considera como una entidad con alto riesgo materno y fetal. Los embarazos múltiples tienen un impacto mayor en los sistemas de salud, debido a la mayor frecuencia de complicaciones. La rotura prematura de membranas causa aproximadamente el 40 por ciento de los partos pretérmino y, como consecuencia, aportan un 10 por ciento de la mortalidad perinatal según la Sociedad Española de Ginecología y Obstetricia. En este caso clínico se observó que una actitud expectante con los pertinentes controles ecográficos (índice del líquido amniótico), analíticos (recuento leucocitario y reacción en cadena de la polimerasa) y clínicos (frecuencia cardiaca y temperatura) pueden llevar a una buena evolución posnatal que justificó al menos en esta ocasión, una actitud conservadora(AU)

Embryonic reduction is the selective interruption of the development of one or several fetuses in the first trimester of pregnancy. Twin pregnancy occurs in approximately one in every 100 births. It is considered an entity with high maternal and fetal risk. Multiple pregnancies have greater impact on health systems due to the higher frequency of complications. Premature rupture of membranes causes approximately 40 percent of preterm births and, consequently, it contributes 10 percent of perinatal mortality according to the Spanish Society of Gynecology and Obstetrics. In this clinical case it was observed that an expectant attitude with the relevant ultrasound (index of amniotic fluid), analytical (leukocyte count and polymerase chain reaction) and clinical (heart rate and temperature) controls can lead to good postnatal evolution, justified at least on this occasion, a conservative attitude(AU)

Acciones que realiza el hombre para prevenir el embarazo ante el virus del Zika / Action that man performs to prevent pregnancy against the Zika virus

Según la Organización Mundial de la Salud (OMS), el virus del Zika es "un flavivirus transmitido por mosquitos que se identificó por vez primera en Macacos, Uganda 1947 a través de una red de monitoreo de la fiebre amarilla". Objetivo: Identificar el conoci-miento y acciones que realizan los emplea-dos masculinos de mantenimiento de la Uni-versidad Nacional Autónoma de Honduras en el Valle de Sula (UNAH-VS) para la prevención del embarazo ante el virus del Zika, durante el segundo semestre del año 2016. Pacientes y métodos Estudio cuanti-tativo exploratorio, descriptivo. Población 29 hombres, muestra 28. Instrumento tipo cuestionario, previo consentimiento informa-do. Resultados: El 61% (17) tenían edad reproductiva (20-35 años), 96% (27) esta-ban activos sexualmente, 14% (4) sí tenían conocimiento que el virus del Zika permane-ce en el semen del hombre. El 89% (25) sí conocia que el virus del Zika en el embarazo causa microcefalia en el bebé por nacer, 11% (3) no, 21% (6) sí utiliza algún método para prevenir el embarazo con su pareja, 79% (22) no utilizan métodos anticoncepti-vos y 83% (23) no saben cuanto tiempo abs-tenerse sin protección en las relaciones sexuales. Conclusión: Los resultados señalan que el personal masculino de man-tenimiento de la UNAH-VS, la mayoría des-conoce que el virus permanece en el semen Artículos Originalesdel hombre despues de la patología; por lo tanto no toman medidas preventivas ante un posible embarazo...(AU)

Down syndrome passed from mother to child / Transmisión de síndrome de Down de madre a hijo

Down syndrome is the leading cause of inherited intellectual disability; it is characterized by mental retardation associated to physical growth delay and certain physical traits or features. It is caused by the presence of a third copy of chromosome 21, being this trisomy the most common chromosomal aneuploidy. Women with Down syndrome are less fertile, and pregnancy in these women is rare, although the information on exact statistics of reproduction in these patients is very limited, and they often have difficulties with miscarriage, premature birth, and difficult labor. We report the case of a preterm newborn with Down syndrome passed from her mother; this pregnancy was a result of sexual assault, which is an event that can and should be prevented in this population.

El síndrome de Down es la principal causa de discapacidad intelectual congénita; se caracteriza por retraso mental asociado a retardo del crecimiento y del desarrollo psicomotor, así como a algunas características físicas típicas. Se debe a la presencia de una tercera copia del cromosoma 21, siendo esta trisomía la aneuploidía cromosómica más común. Las mujeres con síndrome de Down tienden a ser menos fértiles y el embarazo en ellas es poco frecuente, aunque los datos estadísticos de este evento son limitados, y se asocia, además, a dificultades que terminan en aborto, parto prematuro y parto difícil. Se reporta el caso de un recién nacido prematuro con síndrome de Down, hijo de madre con el mismo diagnóstico, producto de un embarazo resultado de violación, evento que debe ser prevenido de forma oportuna en esta población de alto riesgo.

Temperatura de almacenamiento y cantidad de ARN extraído de plasma materno / Temperature of storage and amount of RNA extracted from maternal plasma

El descubrimiento de los ácidos nucleicoscirculantes en plasma materno abrió nuevas posibilidadespara el diagnóstico prenatal no invasivo. No obstante,se desconocen los factores que afectan la concentracióndel ARN de origen feto-placentario en muestras deplasma materno. Fue investigado el efecto del tiempo dealmacenamiento (inmediatamente, 4 y 24 horas, 15 y 30 días),temperatura de almacenamiento (4ºC, -20°C y ambiente) yTrizol (con o sin) sobre la cantidad del ARN en muestrasde plasma de gestantes, antes de la semana 20 de embarazo.Se analizaron por espectrofotometría 33 muestras de ARNextraídas de plasma La temperatura afecta la concentraciónde ARN, más que el tiempo de almacenamiento y laadición de Trizol. De igual forma, la cantidad de ARN fueestadísticamente menor en muestras almacenadas a -20°C.El tiempo de almacenamiento y la presencia o ausenciade Trizol no incidió en la concentración de ARN. Enconclusión la temperatura es factor clave en la extracción deARN, donde probablemente el proceso de congelamientodescongelamientoincide negativamente en la concentraciónde ARN...

The discovery of nucleic acids in maternal plasma unlocked new possibilities for noninvasive prenataldiagnosis. However, the factors affecting the concentration of fetal RNA in maternal plasma samplesare unspecified. Here we studied the effect of storage time (15 to 30 days) and temperature (4°C, -20°Cand ambient) and of the presence of Trizol on the concentration of RNA in plasma samples taken frompregnant women before their 20th week. Thirty-three RNA samples were extracted from plasma andanalyzed by spectrophotometry. The amount of RNA was statistically lower in samples stored at -20°Cwhereas storage time and the presence or absence of Trizol did not affect RNA level. Temperature affectedthe concentration of RNA, rather than time and the addition of Trizol. In conclusion, temperature is akey factor in the extraction of RNA, and the freeze-thaw process most likely affects RNA concentrationsnegatively...

A descoberta dos ácidos nucleicos no plasmamaterno abriu novas possibilidades para o diagnóstico prénatalnão-invasivo. Desconhecem-se no entanto os fatoresque afetam a concentração do RNA de origem maternofetalnas amostras do plasma materno. Investigou-se o efeitodo tempo de armazenamento (15 a 30 dias), da temperaturade armazenamento (4°C, -20°C e ambiente), e de Trizol(com ou sem) sobre a quantidade de RNA nas amostras deplasma de gestantes, antes da vigésima semana de gravidez.33 amostras de RNA extraídas do plasma foram analisadaspor espetrofotometria. A temperatura afecta a concentraçãode RNA, mais que o tempo de armazenamento e de adiçãode Trizol. Da mesma forma, a quantidade de RNA foisignificativamente menor nas amostras armazenadas a -20°C. O tempo de armazenamento e a presença ou ausênciade Trizol não afetou os níveis de RNA. Em conclusão, atemperatura é um fator chave para a extração de RNA,onde provavelmente, o processo de congelamento edescongelamento afeta negativamente a concentração deRNA...

Utility of molecular studies in incontinentia pigmenti patients.

The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.

Feasibility of introducing genetic services in the National Family Welfare Programme in India.

Background & objective: Genetic factors could play an important role in the outcome of pregnancy. This study was carried out to identify risk factors that result in adverse pregnancy outcome and to develop a system of screening and referral to a tertiary hospital equipped with facilities for diagnosis and management of such high risk pregnancies. Methods: District level hospitals close to the participating centers e.g. All India Institute of Medical Sciences, New Delhi, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, BJ Medical College, Pune, St. John Medical College, Bangalore and Genetic Research Center, (ICMR), Mumbai, were selected. Pregnant women < 28 wk gestation attending antenatal OPD of selected district hospitals were included. All eligible women who gave consent for participation in the study, were screened using a predesigned proforma based on family history, past pregnancy history, history of genetic disease/ congenital malformation in previous child and history of present pregnancy. Pregnancy outcome was noted. Results: There was statistically significant difference in the outcome of pregnancy in the following groups: (i) past pregnancy history of 3 or more spontaneous abortions (RR= 3.9; CI=1.17-9.02); (ii) still birth (RR= 2.5; CI= 1.41-4.48); (iii) previous child with neurol tube defect (NTD) (RR=2.3; CI= 1.22- 4.60); and (iv) previous child with congenital malformation (RR=2.2; CI = 1.11- 4.35). Interpretation & conclusion: A sample questionnaire may be used for screening of pregnant women at risk of having and adverse outcome. Also screening of pregnant women for thalassaemia carrier state and maternal serum α-foetoprotein (AFP) for NTD may be useful.

Antecedentes de enfermedades maternas en pacientes con fisura de labio y/o paladar en Ciudad de La Habana / Maternal disease backgrounds present in patients with cleft lip and palate or both in Havana City

Las malformaciones congénitas se definen como defectos estructurales genéticamente determinados presentes en el niño en el momento de nacer. Se han identificado miles de defectos congénitos. Las fisuras labio-palatinas constituyen deficiencias estructurales congénitas debidas a la falta de unión entre algunos procesos faciales embrionarios en formación. Este defecto es comúnmente encontrado en los nacidos vivos. En el presente estudio nos proponemos identificar el comportamiento de las fisuras de labio y/o paladar en madres enfermas durante el embarazo. Para ello se analizaron todos los niños nacidos vivos, con el diagnóstico de fisura de labio y/o paladar en el período de tiempo comprendido entre los años 2000 y 2006 en la provincia Ciudad de La Habana, donde se obtuvo un universo de estudio de 112 pacientes. El formulario estuvo dirigido a obtener información relacionada con el padecimiento de enfermedades por las madres de los pacientes en el momento de la gestación. La mayoría de las madres con niños fisurados se enfermaron durante el embarazo. El trimestre de mayor afectación fue el tercero y la enfermedad más común la hipertensión arterial(AU)

Congenital malformations are defined as genetically determined structural defects present in the child at birth. Thousand congenital defects have been identified. Lip-palate fissures are congenital structural deficiencies due to a faulty fusion of some developing embryonal facial process. This defect is usually found in live-born children. In present study we intended to identify behavior of lip, palate fissures, or both in sick mother during pregnancy. Thus, we analyzed all the live-born children diagnosed with lip, palate fissure, or both during 2000-2006 years in Havana City province, with a study sample of 112 patients. Form was designed to get the information related to diseases present in the patient's mothers during pregnancy. Most of mothers whose children had fissures had diseases during pregnancy. The trimester of great affection was the third one, and the most frequent disease was the high blood pressure(AU)

Indomethacin-induced colon perforation in Bartter's syndrome.

Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin from 26 to 31 week of gestation. The newborn was delivered at 34 week of gestation. At 8th day of life, indomethacin was also started for the baby. After three days, a colonic perforation developed. Indomethacin-induced colon perforation is uncommon in antenatal Bartter's syndrome. This patient indicates that administration of indomethacin in both antenatal and/or early postnatal period may be associated with colonic perforation.

Indice de masa corporal en la mujer embarazzada y su relación con las complicaciones del nacimiento en la ciudad de Córdoba en el período comprendido entre el año 1996-2003 / Index of corporal mass in the woman embarazzada and his relation with the complications of the birth in the city of Cordova in the period understood between the year 1996-2003

El estado nutricional de las madres gestantes se encuentra muy relacionado a la morbimortalidad del recién nacido. De los múltiples parámetros nutricionales, solo el índice de masa corporal (IMC) y el aumento de peso durante el embarazo han demostrado ser indicadores confiables de la futura salud del neonato. Objetivo: conocer las consecuencias de un bajo índice de masa corporal y su relación con futuras complicaciones del nacimiento en una población de medianos y bajos recursos de la ciudad de Córdoba. Material y Métodos: se realizó un estudio retrospectivo de tipo caso control, en la base de datos del Hospital Universitario de Maternidad Neonatología, tomada desde enero de 1996 hasta octubre de 2003. Se incluyeron las mujeres con una gestación igual o mayor a 24 semanas, en quienes se estudió como variable dependiente el índice de masa corporal. Resultados: el peso de los recién nacidos de madres con IMC bajo, fue significativamente inferior al de los de madre con IMC normal(p < 0,0001). Esta alteración en el crecimiento se produce en las primeras etapas de la gestación, ya que la talla y el perímetro cefálico también se encontraron disminuidos.

Polimorfismos gênicos da metilenotetrahidrofolato redutase, cistationina beta-sintetase e metionina sintase: associação a perdas fetais recorrentes e níveis séricos de vitamian B12, folatos e hemocisteína / Polymorphisms of metilenotetrahidrofolato reductase gene, cystathionine beta-synthase and methionine synthase: association with recurrent fetal losses and serum vitamian B12, folate and hemocisteína

A patogênese dos abortos espontâneos envolve interação complexa de diversos fatores genéticos e ambientais. A homocisteína é um aminoácido envolvido em diversos processos metabólicos incluindo metilação e sulfuração, sendo que as concentrações plasmáticas de homocisteína são determinadas por fatores nutricionais, como a ingestão de folatos e vitamina BI2, e de variações na atividade de enzimas decorrentes da presença de polimorfismos gênicos. Atualmente, a elevação da homocisteína plasmática e a deficiência de folatos e vitamina BI2 têm sido associadas a problemas obstétricos, incluindo o aborto espontâneo recorrente. O objetivo deste trabalho foi investigar associações entre os polimorfismos presentes em genes responsáveis pela síntese de proteínas envolvidas no metabolismo da homocisteína e seus substratos e ocorrência de aborto espontâneo recorrente. Foram investigados os polimorfismos C677T e A1298C no gene da enzima metilenotetrahidrofolato redutase (MTHFR); o polimorfismo A2756G no gene da enzima metionina sintase (MS) e a inserção 844ins68 no gene da enzima cistationina beta sintetase (CBS), utilizando o técnica de PCR - RFLP. Os níveis séricos de homocisteína, vitamina BI2 e folatos foram determinados pela técnica de quimioluminescência. As freqüências a1élicas dos po1imorfismos entre 89 mulheres com história de abortos recorrentes e 150 controles foram de 19,1 por cento e 19,6 por cento, respectivamente, para o polimorfismo C677T da MTHFR; 20,8 por cento e 26,0 por cento, respectivamente,para o polimorfismo A1298C da MTHFR; 14,2 por cento e 21,9 por cento, respectivamente, para o polimorfismo A2756G da MS; e 16,4 por cento e 18,0 por cento, respectivamente, para a inserção 844ins68 da CBS. No presente estudo não foram encontradas diferenças significativas entre as freqüências dos polimorfismos nos grupos de mulheres investigadas.

Pregnancy in an achondroplastic dwarf: a case report.

Achondroplasia is a rare disorder occurring 1 in 1 5,000 to 1 in 40,000 live births. It is, however, the commonest cause of short-limbed dwarfism. It is a genetic disorder and inherited as an autosomal dominant trait but most cases (80%) are due to mutations of fibroblast growth factor receptor 3 (FGFR3). These individuals have normal mental and sexual development, and life span may be normal. Certain gynaecological problems like infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause are more common in these patients. Information regarding obstetric behaviour in achondroplastic females is scarce in literature. However, problems such as pre-eclampsia, polyhydramnios, respiratory compromise, contracted pelvis necessitating lower section caesarean section, prematurity and foetal wastage, etc, have been reported. General anaesthesia is preferred to regional anaesthesia because of the spinal abnormalities. There is increased neonatal mortality due to hydrocephalus and thoracic cage abnormality. Such a patient is considered high risk in terms of anaesthesia and obstetric outcome and there is enough room for prenatal counselling and diagnosis. Here a case of achondroplasia with pregnancy is reported. The patient, an achondroplastic dwarf presented with 30 weeks pregnancy. She was prenatally screened with ultrasonography to rule out affection in baby. She had a caesarean section for contracted pelvis.