ABSTRACT
No disponible
Subject(s)
Humans , Male , Infant , Hematuria/etiology , Cystinuria , Urinary Calculi , Ultrasonography, PrenatalSubject(s)
Colon/diagnostic imaging , Cystinuria/embryology , Fetal Diseases/diagnostic imaging , Ultrasonography, Prenatal , Amniotic Fluid/metabolism , Colon/embryology , Cystic Fibrosis/diagnosis , Cystine/metabolism , Cystinuria/complications , Cystinuria/diagnostic imaging , Diagnosis, Differential , Early Diagnosis , Fetal Diseases/metabolism , Hematuria/etiology , Humans , Infant , Male , Nuchal Translucency Measurement , Urinary Bladder Calculi/etiologyABSTRACT
El síndrome de Wolf-Hirschhorn (SWH) está producido poruna deleción a nivel del brazo corto del cromosoma 4 (4p). Existe una amplia variación en el tamaño de la deleción, correlacionándose el defecto citogenético con el fenotipo. La búsqueda de unos criterios ecográficos mínimos permitirán la orientación diagnóstica de este síndrome en el estudio prenatal. Presentamos un caso de una paciente que al realizar la ecografía selectiva en la semana 21 de gestación muestra oligoamnios y cardiopatía congénita. El estudio citogenético yla hibridación in situ fluorescente (HISF) (fluorescent in situ hybridization [FISH]) reveló la presencia de una deleción del brazo corto de cromosoma 4: 46,XX,del(4)(p14). Los padres optaron por interrumpir el embarazo y se realizó estudio necrósico al feto que mostró signos dismórficos craneofaciales típicos de SWH, así como malformaciones cardíacas. El diagnóstico prenatal del SWH se realiza habitualmente en fetos en los que se realiza cariotipo por indicaciones de rutinapara análisis cromosómico o por retraso de crecimiento intrauterino con o sin otras anomalías asociadas. Nosotros relacionamos nuestros hallazgos ecográficos: defectos de la línea media (defectos cardíacos septales) y oligoamnios como signos orientativos para el diagnóstico prenatal del SWH
Wolf-Hirschhorn syndrome (WHS) is a well-knowchromosomal disorder attributable to partial deletion ofthe short arm of chromosome 4 (4p). We found ample variations in both the size of the deletions and the position of the respective breakpoints. Search of minimun ecographic criteria will make possible a diagnostic guide of such syndrome in prenatal studies. We report a case in which oligoamnios and congenital heart defects were detected by prenatal ultrasound examination at 21 weeks of gestation. Cytogenetic and FISH analysis of the cultured amniocytes revealed a 46,XX,del(4p14) karyotype. The parents opted to terminate the pregnancy. Fetopathological examinationshowed typical craneofacial dysmorphic signs of WHS andsevere congenital heart defects. Prenatal diagnosis of WHS has only been occasionally reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies. The associated sonographic signs of midline fusion defects (cardiac septal defects) and oligoamnios, may help to refine specific cytogenetic analysis taking into consideration 4p syndrome
Subject(s)
Humans , Female , Pregnancy , Adult , Chromosome Deletion , Heart Defects, Congenital/diagnosis , Prenatal Diagnosis/methods , Amniotic Fluid/cytology , Chromosomes, Human, Pair 4/genetics , Facies , Tetralogy of Fallot/diagnosisABSTRACT
Se presentan 2 casos de absceso poscesárea en pacientes de bajo riesgo quirúrgico ilustrados con imágenes de tomografía no concluyentes, y se discuten sus posibles diagnósticos diferenciales. El diagnóstico por la imagen del absceso pelviano se puede confundir con la degeneración miomatosa
We report 2 cases of postcesarean pelvic abscess that presented in low surgical risk patients. Tomographic scans were inconclusive. The possible differential diagnoses are discussed. Imaging diagnosis of a pelvic abscess may lead to confusion with red degeneration of leiomyoma
Subject(s)
Female , Pregnancy , Adult , Humans , Abdominal Abscess/etiology , Peritoneal Diseases/etiology , Abdominal Abscess/diagnosis , Peritoneal Diseases/diagnosis , Cesarean Section/adverse effects , Myoma/diagnosis , Myoma/surgery , Abdominal Abscess/surgery , Peritoneal Diseases/surgery , Diagnosis, Differential , Tomography, X-Ray Computed , LaparotomyABSTRACT
Presentamos el caso de una paciente de 42 años con gestación gemelar espontánea que presenta un parto inmaduro del primer gemelo en la semana 22 de gestación. Se opta por un tratamiento conservador consistente en profilaxis antibiótica, maduración pulmonar con corticoides y reposo absoluto hospitalario, sin empleo de cerclaje ni tocólisis, consiguiéndose prolongar la gestación hasta el término en el que se produce un parto eutócico del segundo gemelo sano
We report the case of a spontaneous twin gestation in a 42-year-old who presented with premature labor of the first twin at 22 weeks' gestation. Conservative management was followed, consisting of prophylactic antibiotics, corticosteroids for lung maturation and bed rest in hospital, without the use of cerclage or tocolysis. As a result, gestation was prolonged until week 38 when vaginal birth of a healthy second twin occurred
Subject(s)
Female , Pregnancy , Adult , Humans , Pregnancy, Multiple , Pregnancy Maintenance , Pregnancy Complications/therapy , Adrenal Cortex Hormones/administration & dosage , Bed Rest , Fetal Death , Antibiotic ProphylaxisABSTRACT
Presentamos el caso de una gestación espontánea en una paciente de 28 años con cariotipo 45X0/46XX y fenotipo característico del síndrome de Turner, que estuvo en tratamiento hormonal sustitutivo en la pubertad con posterior menarquia espontánea a los 13 años y 8 meses. La gestación siguió su curso fisiológico salvo amenaza de aborto y amenaza de parto prematuro. Finalizó mediante cesárea por presentación podálica en la semana 38 de gestación, y se apreció un ovario normal y otro en cintilla, y útero bicorne; se obtuvo una recién nacida sana con cariotipo 46XX
We report the case of a spontaneous gestation in a patient affected of Turner syndrome (45XO/46XX). The patient received hormonal therapy during puberty, and presented with menarche at the age of 13 years and 8 months. The course of gestation is physiological except for threatened abortion and preterm labor. A caesarean section due to breech presentation was performed in week 38 in which a bicornuate uterus, rudimentary right ovary and a normal left ovary were observed and a healthy girl with normal cariotype was born
Subject(s)
Female , Pregnancy , Adult , Humans , Turner Syndrome , Pregnancy Outcome/genetics , Pregnancy Complications , Gonadal Dysgenesis, 46,XX/genetics , Child of Impaired ParentsABSTRACT
OBJECTIVE: To determine the concentrations of maternal serum interleukins (ILs) 1, 2, 6, 8 and IL-2 receptors (IL-2R) in patients in their second and third trimesters of pregnancy and in preterm labor and delivery without evidence of chorioamnionitis. STUDY DESIGN: The study was conducted in La Paz Maternal Hospital, Madrid. Maternal serum IL concentrations were measured in 103 gravidas during preterm labor and delivery. The Mann-Whitney U test was used for analysis. RESULTS: Women in preterm labor and delivery had significantly higher median IL-2R concentration. Women who responded to tocolysis had significantly lower serum concentrations of IL-6. IL-2R and IL-6 serum concentrations predict delivery in 48 h and before 34 weeks gestation. CONCLUSIONS: Compared with non-laboring gravidas, those in idiopathic preterm labor or delivery had significantly higher concentrations of maternal serum IL-2R. Both IL-6 and IL-2R may predict failure of tocolysis. IL-2 does not seem to play an important role in pregnancy.