ABSTRACT
Introducción: El síndrome de Rothmund-Thomson (SRT) es un trastorno de herencia autosómica recesiva, con alteraciones endocrino-dermatológicas principalmente. Existen 300 casos a nivel mundial. Solo descrita una gestación. Descripción del caso: Paciente con SRT que consigue 2 gestaciones espontáneas, de curso normal, finalizadas mediante parto vaginal a término, naciendo 2 mujeres sanas. Discusión: La fertilidad esta disminuida debido a un hipogonadismo hipogonadotropo, sin embargo, describimos 2 gestaciones exitosas y de curso normal. El diagnóstico se realiza por hallazgos clínicos y es posible realizar estudio molecular tras técnicas de diagnóstico prenatal invasivas. Es importante un diagnóstico diferencial correcto
Introduction: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disease with endocrine and dermatological alterations. There are 300 cases worldwide, but there is only one documented case of RTS during pregnancy. Case description: A patient had two spontaneous and uneventful pregnancies, giving birth to two healthy girls through vaginal delivery at term. Discussion: Decreased fertility is due to hypogonadotropic hypogonadism. However, we describe two successful and uneventful pregnancies. Diagnosis is based on clinical findings. Molecular study is possible with invasive prenatal diagnostic techniques. The differential diagnosis is very important
Subject(s)
Humans , Female , Pregnancy , Adult , Rothmund-Thomson Syndrome/complications , Hypogonadism/complications , Pregnancy Complications , Pregnancy Outcome , Infertility, Female , Diagnosis, DifferentialABSTRACT
Las complicaciones hemorrágicas graves asociadas al embarazo suelen ocurrir en el tercer trimestre del mismo y se relacionan frecuentemente con situaciones de preeclampsia y síndrome HELLP. El síndrome HELLP solo incide en el 0,5-0,9% de las gestaciones, pero su elevada morbimortalidad maternofetal nos obliga a tener en cuenta su diagnóstico en sus diversas formas de presentación clínica. Aunque la gran mayoría de las alteraciones hepáticas que ocurren en el embarazo tienen relación con las escasas hepatopatías inherentes al mismo, la duda diagnóstica ocurre con cierta frecuencia. Presentamos un caso de síndrome HELLP incompleto (variante ELLP) tratado efectivamente mediante actitud quirúrgica conservadora y cuyas peculiaridades inciden en diversos aspectos de esta entidad(AU)
Severe hemorrhagic complications associated with pregnancy usually occur within the third trimester and are frequently linked to preeclampsia and HELLP syndrome. HELLP syndrome affects only 0.5-0.9% of pregnancies but, because it causes high maternal-fetal mortality, a correct diagnosis of the various forms of presentation of this syndrome is essential. Although most of the liver alterations observed during pregnancy are related to pregnancy itself, diagnostic doubts are not infrequent. We present a case of incomplete HELLP syndrome (ELLP variant) associated with a subcapsular liver hematoma, which was successfully treated with a conservative surgical approach(AU)
Subject(s)
Humans , Female , Pregnancy , HELLP Syndrome/surgery , Hematoma/complications , Liver Diseases/complications , Pregnancy ComplicationsABSTRACT
OBJECTIVE: To investigate amino acids in amniotic fluid collected at the time of genetic amniocentesis. METHODS: We analyzed 128 fluids from the 15(th) week of gestation and 53 from the 16(th) week of gestation from normal pregnancies, and eight in the 15(th) week and seven in the 16(th) week from pregnancies that lead to preterm deliveries. We calculated the mean values for each week and the ratios between each pair of amino acids. The data for both groups (normal and preterm delivery) were compared. RESULTS: The most abundant amino acid in both groups was alanine. The comparisons of the groups showed significant differences for isoleucine in the 15(th) gestational week (p<0.05). Some amino acids had different evolutions between both gestational ages on comparing the normal group and preterm group. Eighteen ratios in the 15(th) week showed significant differences (mainly in the ratios of arginine and taurine), and three in the 16(th) week. CONCLUSIONS: The amino acid profiles in amniotic fluid, particularly in the 15(th) week of gestation, showed differences in the pregnancies that lead to preterm delivery.
Subject(s)
Amino Acids/analysis , Amniotic Fluid/chemistry , Obstetric Labor, Premature/etiology , Pregnancy Trimester, Second , Adult , Amniocentesis , Female , Gestational Age , Humans , PregnancyABSTRACT
La malformación adenomatoidea quística de pulmón (MAQ) es una anomalía pulmonar congénita detectable prenatalmente por ecografía. El hallazgo inicial es una masa intratorácica sólida o quística. La ecografía permite detectar la malformación y sus posibles complicaciones evolutivas, que influyen en la actitud que se debe adoptar. Se presentan 2 casos clínicos de MAQ, con evoluciones opuestas, tanto en el período prenatal como posnatal. En ambos casos, el resultado a largo plazo ha sido favorable. Se realiza también un recuerdo de las principales características de esta malformación, el seguimiento prenatal y las distintas opciones terapéuticas (AU)
