El embarazo en el síndrome de Rothmund-Thomson, fertilidad y manejo / Pregnancy in Rothmund-Thomson syndrome: Fertility and management

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

Tratamiento quirúrgico conservador del síndrome de HELLP (ELLP) asociado a hematoma hepático subcapsular / Conservative surgical treatment of HELLP syndrome (ELLP variant) associated with a subcapsular liver hematoma

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)

[Prevalence and treatment of anemia in critically ill patients]. / Prevalencia y tratamiento de la anemiaen el paciente crítico.

Anemia is a common condition among medical and surgical patients admitted to the intensive care unit (ICU) and generally has a multifactorial origin. In order to avoid the deleterious effects of anemia, 40% of ICU patients receive allogenic blood transfusion (ABT). This figure increases up to 70% if the ICU stay is longer than 7 days. However, ABT is associated with a dose-dependent increase in morbidity and mortality. In contrast, the administration of exogenous erythropoietin plus iron supplements, especially iv iron, improves anemia and reduces ABT requirements, although it does not reduce mortality. To ascertain whether treatment of anemia in the critically ill with exogenous erythropoietin and iron might improve outcomes and to optimize drug administration schedules and dosage, further studies with sufficient statistical power and adequate follow-up are warranted.

Prevalencia y tratamiento de la anemiaen el paciente crítico / Prevalence and treatment of anemia in critically ill patients

La anemia es muy frecuente en los pacientes médicos y quirúrgicos ingresados en la Unidad de Cuidados Intensivos (UCI), siendo generalmente de origen multifactorial. Para evitar los efectos deletéreos de la anemia, un 40% de estos pacientes suele ser transfundido, elevándose esta cifra al 70% si la estancia en UCI supera los 7 días. Sin embargo, la transfusión de sangre alogénica se asocia con un aumento dosis-dependiente de la morbilidad y mortalidad. Por el contrario, la administración de eritropoyetina recombinante junto con suplementos de hierro, especialmente hierro endovenoso, estimula la eritropoyesis y disminuye la necesidad de transfusión, aunque no desciende la mortalidad. Es necesario por tanto realizar más estudios, con poder estadístico suficiente y período de seguimiento adecuado, para conocer si el tratamiento de la anemia del paciente crítico con eritropoyetina y con hierro endovenoso mejora el pronóstico de estos pacientes, así como para optimizar las pautas y dosis de dichos tratamientos

Anemia is a common condition among medical and surgical patients admitted to the intensive care unit (ICU) and generally has a multifactorial origin. In order to avoid the deleterious effects of anemia, 40% of ICU patients receive allogenic blood transfusion (ABT). This figure increases up to 70% if the ICU stay is longer than 7 days. However, ABT is associated with a dose-dependent increase in morbidity and mortality. In contrast, the administration of exogenous erythropoietin plus iron supplements, especially iv iron, improves anemia and reduces ABT requirements, although it does not reduce mortality. To ascertain whether treatment of anemia in the critically ill with exogenous erythropoietin and iron might improve outcomes and to optimize drug administration schedules and dosage, further studies with sufficient statistical power and adequate follow-up are warranted

Amino acids in amniotic fluid in the 15th-16th weeks of gestation and preterm labor.

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.

Role of parenteral iron in transfusion requirements after total hip replacement. A pilot study.

An important percentage of patients undergoing total hip replacement (THR) receive allogeneic blood transfusion (ABT) to avoid the risks of acute anaemia. However, concerns about the risks of ABT have led to the search for alternatives, such as stimulation of erythropoiesis. We prospectively investigated the effect of postoperative administration of 300 mg of intravenous iron sucrose on ABT requirements in THR patients (group 2; n = 24). A previous series of 22 THR patients served as the control group (group 1). All patients were operated on by the same surgeon, using the same implant, and a set of clinical data was gathered. No adverse reactions to iron administration were observed. The group-given iron showed a trend to a lower transfusion rate (46 vs. 73%; P = 0.067) and lower transfusion index (0.96 vs. 1.68 units/patient; P = 0.038). Moreover, amongst the non-transfused patients, admission haemoglobin levels were lower in those coming from the iron group than those from the control group (12.7 +/- 0.9 vs. 14.0 +/- 1.2 g dL(-1), respectively; P = 0.017). Postoperative parenteral iron administration could be a safe and effective way to reduce ABT requirements in the THR patients. A large, randomized controlled trial to confirm these results is warranted.

Utility of point-of-care haemoglobin measurement in the HemoCue-B haemoglobin for the initial diagnosis of anaemia.

Measurement of haemoglobin (Hb) concentration provides a reliable indication of the presence and severity of anaemia. However, other laboratory parameters are usually requested as well, leading to an increase in socio-sanitary costs. Accordingly, this study was undertaken to ascertain the reliability of point-of-care Hb determination with the portable photometer HemoCue-B haemoglobin (HBH) and to evaluate its utility for the initial diagnosis of anaemia. Hb was measured (x3) in 20 venous blood samples diluted with saline (v/v; 1 : 0, 2 : 1, 1 : 1, 2 : 1 and 3 : 1) to obtain a wide range of Hb and in venous and capillary blood samples from 247 primary health care patients. All HBH results were compared with those yielded by the reference cell counter Pentra 120 Retic (ABX). In diluted samples, Hb values obtained with either method were not significantly different (ABX-HBH, -0.01 +/- 0.32 g/dl; 95% CI, -0.04 to 0.028 g/dl) and showed an excellent Pearson's coefficient of correlation (r = 0.992; P < 0.01). HBH provides accurate values if at least 4 mul of blood is loaded into the cuvette. There were no significant differences between Hb measured in venous (v) and capillary (c) blood samples in primary care patients. Eighteen anaemic patients were detected by ABX measurements (7.3%; 15 female/3 male), 18 by HBHv (specificity, 100%; sensitivity, 100%) and 25 by HBHc (eight false positives; one false negative; specificity, 94.4%; sensitivity, 96.5%). Compared with ABX, HBH provides accurate and precise measurements for a wide range of Hb and its use in primary health care seems to be a good method for the initial diagnosis of anaemia.

Malformación adenomatoidea quística de pulmón: diagnóstico prenatal / Congenital cystic adenomatoid malformation of the lung: prenatal diagnosis

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)