Estudios clínicos y genéticos en tres miembros de una familia afectados con adenomas hipofisarios aislados con prolactinomas homogéneos / Clinical and genetic studies of a three-member familial isolated pituitary adenoma with homogeneous prolactinomas

La mayoría de los adenomas hipofisarios son esporádicos, pero un 3-5% puede ocurrir en un contexto familiar y hereditario. Este es el caso de la neoplasia endocrina múltiple de tipo 1 (NEM1), complejo de Carney (CNC) y adenomas hipofisarios aislados familiares (FIPA). El FIPA es una condición infrecuente, que ocurre en un contexto familiar, no asociada a NEM t ipo1 ni CNC. Los FIPA pueden ser homogéneos (todos los adenomas tienen el mismo fenotipo) o heterogéneos (diferente fenotipo tumoral). Describimos una familia congolesa en la que dos hermanas y una prima fueron diagnosticadas a los 29, 32 y 40 años, respectivamente, con un prolactinoma (FIPA homogéneo). Las pacientes presentaron macroadenomas no invasivos al momento del diagnóstico, con buena respuesta biológica y tumoral al tratamiento con cabergolina hasta una dosis máxima de 1.5 mg/semanal. De las dos hermanas, una cursó un embarazo sin complicaciones. Durante el seguimiento de 12 años, ninguna de ellas presentó elementos clínicos o biológicos compatibles con NEM1 o CNC, por lo que dichos genes no se estudiaron. El análisis genético en dos de las pacientes permitió descartar la posibilidad de una mutación germinal del gen aryl hydrocarbon receptor interacting protein (AIP). Se considera que el 80% de los pacientes con FIPA no presentan mutación del gen AIP, por lo que se requieren futuros estudios en este tipo de familias, para poder determinar otros genes afectados involucrados en su fisiopatología.

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. FIPA kindred can be homogeneous (all adenomas affected in the family having the same tumor phenotype) or heterogeneous (different tumor phenotypes in the affected members). We describe a Congolese family in which two sisters and a cousin were diagnosed with a prolactinoma (homogenous FIPA) at the ages of 29, 32 and 40 years, respectively. The patients presented with macroadenomas at the time of diagnosis, non-invasive tumors and good biological response to cabergoline treatment (maximum dose of 1.5 mg/weekly). Of these two sisters, one went through a pregnancy without complications. Because no MEN1 and CNC clinical and biochemical features were detected during the 12-year follow-up, these genes were not investigated. The genetic analysis of the aryl hydrocarbon receptor interacting protein (AIP) was normal. As nearly 80% of patients with FIPA do not have a mutation in the AIP gene, future studies in these families are required to identify other affected genes involved in their physiopathology.

Influence of low serum-albumin on maternal and neonatal outcomes in severe pre-eclampsia / 中华围产医学杂志

Objective To explore the effects of low serum-albumin on maternal and neonatal outcomes in severe pre-eclampsia. Methods Two hundred and thirty-three women with severe preeclampsia admitted to our hospital from Jan. 2000 to Mar. 2006 were retrospectively investigated and were divided into two groups according to the serum-albumin level: low serum-albumin group (Group A, n= 133) and normal serum-albumin group (Group B, n=90). Maternal and fetal outcomes were compared between the two groups. Results The proportion of women with abnormal retention of fluid (6.8%, vs 0), elevated liver enzymes (60.9% vs 38.9%) renal involvement (30.1% vs 11.1%) and complications (23.3% vs 11.1%) (placental abruption and postpartum hemorrhage) in group A were significantly higher than those in group B (all P<0. 05). Birth weight in group A was lower than that in group B[(2192. 78±795. 31) g vs (2454. 92±776. 24) g, P<0. 05] and neonatal mortality in group A was higher (26.0%vs 13. 6%, P<0. 05). Conclusions Severe pre-eclampsia with low serum-albumin is associated with severe maternal and neonatal outcomes. Appropriate termination of pregnancy should be considered following adequate and careful assessment of maternal and fetal well-being in order to improve perinatal outcomes.

Análise da pressão plantar e do equilíbrio postural em diferentes fases da gestação / Analysis of plantar pressure and postural balance during different phases of pregnancy

OBJETIVO: Analisar a pressão plantar e o equilíbrio postural nos três trimestres de gravidez, bem como a correlação com as características antropométricas. METODOLOGIA: 60 voluntárias com idade média de 23,3 ± 5,5 anos, sendo 15 mulheres em cada grupo: não-gestantes (C), primeiro (1T), segundo (2T) e terceiro trimestre (3T). A avaliação foi efetuada por meio de plataforma de pressão na posição bipodal com os olhos abertos. As variáveis analisadas nos pés direito e esquerdo foram: pico de pressão em todo o pé (PT), no antepé (PA) e no retropé (PR); distância entre a borda medial dos pés (largura da base de suporte); distância do centro de força ao limite anterior (CFF) e posterior (CFC) dos pés; deslocamento ântero-posterior (AP) e médio--lateral (ML) do centro de força; e área de contato (AC). RESULTADOS: Não houve diferença no pico de pressão de contato e na distância CFF e CFC entre os grupos. O deslocamento AP foi maior (p< 0,05) no grupo 3T em relação ao 1T. Não se observou diferença (p> 0,05) entre os grupos para o deslocamento ML. Houve correlação positiva entre peso ganho durante a gestação com AC para o grupo 2T e com PT no pé direito do grupo 1T. CONCLUSÃO: Os resultados demonstram a influência das mudanças anatômicas e fisiológicas inerentes à gestação na pressão plantar, além de sugerir uma redução do equilíbrio postural no 3T, relacionada ao maior deslocamento AP nessa fase.

OBJECTIVE: To analyze plantar pressure and postural balance during the three trimesters of pregnancy, and also to correlate these with anthropometric characteristics. METHOD: Sixty volunteers participated in this study, with a mean age of 23.3 ± 5.5 years. There were 15 subjects in each group: non-pregnant (C), first trimester (1T), second trimester (2T) and third trimester (3T). Evaluations were performed in bipedal stance with open eyes, using a pressure platform. The following variables were analyzed in the right and left feet: peak pressures in the whole foot (WFP), forefoot (FFP) and hindfoot (HFP); distance between the medial borders of the foot (width of support base); the distance from the center of force to the anterior (COF-A) and posterior (COF-P) limits of the foot; anteroposterior (AP) and mediolateral (ML) COF displacements; and the contact area (CA). RESULTS: There were no differences in peak contact pressures and COF-A and COF-P distances between the groups. The AP displacement was greater (p< 0.05) in 3T than in 1T. There was no difference (p> 0.05) between the groups regarding ML displacement. There was a positive correlation between weight gained during pregnancy and CA for the 2T group, and between weight gain and WFP in the right feet in the 1T group. CONCLUSION: The results demonstrate the influence of the anatomical and physiological changes inherent to pregnancy on plantar pressure. They also suggest that postural equilibrium decreases in the third trimester, associated with greater AP displacement during this phase.

Transvaginal Selective Fetal Reduction in Multifetal Pregnancy induced by Assisted Reproductive Technology / 대한산부인과학회잡지

OBJECTIVE: The prevalence of multifetal pregnancies has increased up to 30% as a result of the introduction of ovulation inducing agents for assisted reproductive teclmology(ART). An exttemely poor pognosis could be expected for viable pregnancies in multifetal gestation. So, to decrease the consequence of multiple pregnancies and prevent complications, especially premature baby irreversibly damaged, selective fetal reduction to the smaller number of fetuses should be considered in an early gestational period. METHODS: From May 1994 to Apr 1998, transvaginal selective fetal reduction in 13 pati including 9 triplet, 3 quadruplet and 1 quintuplet. Of the 13 patients, 4 were obtained by controlled ovarian hyperstimulation with intrauterine insemination (COH with IUI), 6 were by IVF-ET, 2 wae by controlled ovarian hyperstimulation with natural contact and 1 was by natural conception. Selective fetal reduction using intracardiac KC1 injection and aspiration of amniotic fluid carried out in 8-11 weeks of gestation. RESULTS: After procedures, 8 patients were remained as twin pregnancies, 5 patients as singleton pregnancies and 1 of the remaining twin embryos vanished after procedure. There have been 7 sets of twin delivery including 1 stillbirth and 3 singleton delivery. 1 cases are ongoing state. All of the singleton delivery were completed after 37 weeks of gestation. Of the twin delivery, 2 cases were delivered after 37 weeks of gestation, 2 cases in 35-37 weeks, and 3 cases before 35 weeks of gestation. Unfortunately, 1 stillbirth occurred in 20 weeks of gestation and 2 cases of singleton were aborted. As 3 losses(2 singleton, 1 twin) occurred, the delayed fetal loss rate in this selective fetal reduction was 25.0%(3/12). There was no fetal anomaly related to the procedure. CONCLUSION: Selective fetal reduction in multifetal pregnancies is a rather safe procedure and it may improve the outcome of multiple pregnancies.