Apuntes y reflexiones sobre la terapia local de la vulvovaginitis / No disponible

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Diagnóstico y pronóstico prenatal de los linfangiomas fetales. Reporte de dos casos / Diagnosis and prenatal prognosis of fetal lymphangioma. Two cases reports

Resumen ANTECEDENTES: Los linfangiomas fetales son malformaciones del sistema linfático que representan 4% de todos los tumores vasculares en los recién nacidos vivos, con una incidencia de 1.2-2.8‰. CASOS CLÍNICOS: Se comunican dos casos clínicos poco frecuentes, por su localización y extensión, de linfangiomas fetales. En ambas pacientes el diagnóstico se estableció mediante estudio ecográfico, durante el tercer trimestre, en gestaciones de bajo riesgo. La alteración no se relacionó con malformaciones estructurales adicionales, trastornos cromosómicos ni genéticos. La resonancia magnética confirmó el diagnóstico de la enfermedad. En una de las madres, el tamaño del feto determinó la vía de finalización del embarazo (parto). La cirugía fue el tratamiento de elección, con evolución satisfactoria en una paciente y la otra permanece a la espera de una nueva intervención quirúrgica, pues aún manifiesta recidivas. En la actualidad, el desarrollo psicomotor, ponderal y estructural de las pacientes es adecuado. CONCLUSIÓN: La ecografía es un estudio decisivo para establecer el diagnóstico y seguimiento de los linfangiomas fetales.

Abstract BACKGROND: Fetal lymphangiomas are malformations of the lymphatic system, representing 4% of all vascular tumors in living newborns, with an incidence of 1.2-2.8‰. CLINICAL CASE: Two uncommon clinical cases, due to their location and extension, of fetal lymphangiomas are reported. In both patients, the diagnosis was established by ultrasound study, during the third trimester, in low risk gestations. The alteration was not related to additional structural malformations, chromosomal or genetic disorders. Magnetic resonance confirmed the diagnosis of the disease. In one mothers, the size of the fetus determined the route of termination of pregnancy (delivery). Surgery was the treatment of choice, with satisfactory evolution in one patient and the other remains awaiting a new surgical intervention, because it still manifests recurrences. At present, the psychomotor, weigth and size development of the patients is adequate. CONCLUSION: Ultrasound is critical for diagnosis and monitoring of this type of malformations.

Factores exigibles y esfuerzos para indexar una revista científica. El plagio, un factor más como poderoso enemigo / Requirable factors and efforts to index a scientific journal. Plagiarism, one of the worts enemies

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Short and long term outcomes associated with fetal cholelithiasis: a report of two cases with antenatal diagnosis and postnatal follow-up.

The aims of this study were to present and discuss ultrasound findings of prenatal fetal cholelithiasis in two cases with different etiology and evolution. Case 1: a pregnant woman from sub-Saharan Africa, suffering from Lyme disease, was treated with ceftriaxone sodium. Six weeks later, biliary sludge associated with polyhydramnios was detected in the fetus and the fetal growth percentile was 14. Emergency caesarean was performed at 36 weeks of gestation due to fetal distress. Biliary sludge persists in the two-and-a-half-year-old child. Case 2: the fetus of a Caucasian woman with normal pregnancy showed multiple cholelithiasis associated with polyhydramnios at 31 weeks of gestation. At 39 weeks and 4 days, cesarean section was performed due to lack of dilation. The biliary disease resolved spontaneously at seven months of age, with no associated abnormalities. In conclusion, prenatal diagnosis of cholelithiasis is straightforward, but prognosis cannot be defined yet. Serious complications do not arise in 70% of cases, but severe diseases may ensue in 20%. Persistence of cholelithiasis after one year of age results in cholelithiasis in childhood and beyond. Biliary sludge is associated with worse prognosis than cholelithiasis when it appears before 28 weeks of gestation.

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood.

Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological features of the maternal blood sample. Maternal blood is an unequal mixture of small (and fragmented) amounts of fetal DNA within a wide background of maternal DNA. For this reason, initial NIPD studies have been based on the analysis of specific paternally inherited fetal tracts not present in the maternal genome so as to ensure their fetal origin. Following this strategy, different NIPD studies have been carried out, such as fetal-sex assessment for pregnancies at risk of X-linked disorders, RhD determination, and analysis of single-gene disorders with a paternal origin. The study of the paternal mutation can be used for fetal diagnosis of dominant disorders or to more accurately assess the risk of an affected child in case of recessive diseases. Huntington's disease, cystic fibrosis, or achondroplasia are some examples of diseases studied using NIPD. New technologies are opening NIPD to the analysis of maternally inherited fetal tracts. NIPD of trisomy 21 is the latest study derived from the use of next-generation sequencing (NGS).

Peri- and post-menopausal incidental adnexal masses and the risk of sporadic ovarian malignancy: new insights and clinical management.

Adnexal masses are common among peri- and post-menopausal women. Although ovarian cancer is a significant cause of mortality in menopausal women, large population-based studies demonstrate that the majority of adnexal masses are benign. Despite this, the appearance of an adnexal mass is a concern for the patient and an insight exercise for physicians. In most cases, an adnexal enlargement is an incidental finding, generally corresponding to a benign cyst and easily diagnosed by conventional ultrasound. Exceptionally an ovarian tumour may be malignant and should be treated as early as possible. When conventional ultrasound renders complex morphology other diagnostic tools must be used such as: colour Doppler and functional tumour vessel properties, serum CA 125 levels, nuclear magnetic resonance imaging and in some cases laparoscopy. Several new tumour markers are being studied for clinical application, although there are presently no clear recommendations. Adnexal masses with benign morphological and functional properties must be periodically monitored as an alternative to surgery since malignant transformation is exceptional.

Genetic counseling in a case of congenital hemivertebrae.

A case of in utero spondylothoracic dysostoses is diagnosed during a routine third trimester ultrasound scan in a low-risk patient. Ultrasound showed spine deformation, hemivertebrae and crab-like ribs. The newborn had no other associated anomalies except inguinal hernia, and karyotype was normal. Bidimensional and 3-4D ultrasound imaging as well as radiograph of the fetus and photos of the newborn are presented and discussed. Sporadic cases are difficult to diagnose and classify, as they are probably due to genetic heterogenicity. Sporadic cases of hemivertebrae are rare and not always lethal. Fetal ultrasound scan findings can help predict prognosis, enabling the parents' informed decision making.

Fetal extremity kinetics quantified with Doppler ultrasonography.

AIMS: To assess the responsive fetal extremity movement to vibro-acoustic stimulation test (VAST). METHODS: The moving velocity of fetal femur was assessed after VAST by pulsed Doppler device. The ultrasonic beam was insonated at a right angle to the fetal femur. The following parameters were determined: limb retreat velocity in accelerative slope (Pk1); limb replenishment velocity in decelerative slope (Pk2); mean flexion to extension velocity; and the response time to VAST. Among 80 normal singleton pregnancies in 33-41 weeks, 68 were weekly evaluated and the others were assessed for two or more times during the study period, for a total of 680 studies of fetal kinetics. RESULTS: The Pk1 declined from 9.6 to 6.26 cm/s; Pk2 decreased from 2.6 to 1.3 cm/s; mean velocity was reduced from 6.0 to 4.25 cm/s; whereas the response time increased from 0.1 to 0.3 s throughout the study period, i.e., fetal response reduces and the response time increases as maturation progresses. CONCLUSION: The pulsed Doppler may assess fetal activity in any body structure. Reflex responses become slow and complex on both the velocity and response time as maturation increases with gestational age. Our observations have resulted in a novel and easy method for the quantitative assessment of fetal reflex reactivity to external stimuli.

Gastroschisis: primary closure using umbilical cord strengthened by a polypropylene mesh.

AIMS: We present a new method of repairing gastroschisis, where the disproportion between the size of the eviscerated intestine and the hypoplastic abdominal cavity could dangerously elevate abdominal pressure if primary closure of the abdominal wall is attempted. METHODS: We used umbilical cord graft strengthened by a polypropylene mesh to achieve definitive closure of the abdominal wall in a single operation. RESULTS: This technique provides a mesothelial surface in contact with the intestines, strengthened by a fibrous reaction that prevents future herniation. Five-year follow-up in four patients showed no umbilical hernias and overall excellent results. CONCLUSIONS: The technique described is useful and easily applicable in children with abdominal wall defects when primary anatomic closure is not feasible. It also prevents future herniation through the anatomical defect of the abdominal wall.

Diagnóstico prenatal de una trisomía parcial del cromosoma 1 (q25-qter) por translocación paterna / Prenatal diagnosis of partial trisomy 1 (q25-qter) by paternal translocation

Presentamos el diagnóstico prenatal de un caso de trisomía parcial del cromosoma 1 (1q25-qter) por translocación paterna en una paciente de 31 años, a la que se realizó amniocentesis para estudio cromosómico a las 16 semanas de gestación por la existencia de datos dismorfológicos ecográficos. Se efectúa un estudio necrópsico del feto y las anomalías encontradas se comparan con las referidas en otros casos de trisomía parcial del cromosoma 1

We report the prenatal diagnosis of a case of partial trisomy of chromosome 1 (q25-qter) due to paternal translocation in a 31-year-old patient. Amniocentesis for chromosomal analysis was performed in the 16th week of pregnancy because ultrasound examination had revealed certain anomalies. A necropsy of the foetus was carried out and the anomalies found were compared with those in other cases of partial trisomy of chromosome 1

Tele-virtual sonography.

OBJECTIVES: 3D-Ultrasound reconstruction, routinely available since 1994, has brought new technical capabilities such as virtual sonography that can be tele-consulted. Our experience is summarized in the present paper. METHODS: During one year, 73 3D-US volumetric images coming from 34 patients were acquired and 68 were consulted at distance. Acquisitions were carried out through an existing 2D device adding a magnetic tracking system on the US-probe. Probe positioning and video output was introduced into a PC running software that allows the generation of 2D-orthogonal and 3D volume images, as well as tele-consultation. Several image analysis techniques for 3D-reconstruction were evaluated. RESULTS: Final volumes were small (1.5 Mb) and required about 4+/-2 min to be transmitted over one ISDN channel (64 Kbs). Good correlation (k = 0.7) was found between local and distant diagnoses. In 30%, images were considered of low quality and in 29% of good quality; diagnosis could be done with confidence in all except 7 cases. Virtual sonography, by means of oblique cuts in all space directions, improved distant diagnostic confidence. Limitations were linked to incomplete sampling due to the short acquisition time periods (26 s) and difficulties on hand-free probe movement. 3D reconstructions were time consuming (20 min to 4 h) and of limited indication. CONCLUSIONS: 3D reconstruction could reduce multiple explorations due to image constrains such as suboptimal fetal positioning, among others. Virtual sonography was important to reach confidence on distant diagnosis; it was also considered a tool for off-line local review of non-trained sonographer acquisitions.