Alliende Angelica M.,University of Chile |
Curotto B.,University of Chile |
Guerra P.,Servicio de Pediatria |
Maria L.S.,University of Chile |
And 5 more authors.
Revista Medica de Chile | Year: 2011
Background: Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies. Aim: To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital. Patients and Methods: One hundred and eighty patients, 27 with a clinical diagnosis of Down syndrome, derived for the suspicion of a genetic disease, were studied. A karyogram was performed in all of them and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR) were carried out. Results: Among the 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) and four had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 of the 30 patients in whom these were requested. Conclusions: Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial. Source
Alvarez-Solis R.M.,Division de Cirugia Pediatrica |
Vargas-Vallejo M.,Division de Cirugia Pediatrica |
Orozco-Barrientos G.,Sevicio de Pediatria |
Quero-Hernandez A.,Sevicio de Pediatria |
And 2 more authors.
Boletin Medico del Hospital Infantil de Mexico | Year: 2012
Background. Ascaridiasis is one of the main parasitosis affecting children. The main objective is to demonstrate the case of a child with erratic migration of Ascaris lumbricoides found next to the testis in the vaginalis tunic secondary to a perforation of Meckel diverticulum. Case report. We present the case of a school-age male patient who was treated at our clinic due to acute abdomen. Laparotomy was carried out, revealing a perforation of Meckel diverticulum with Ascaris lumbricoides free in the abdominal cavity and with migration to scrotum of female adult Ascaris lumbricoides by way of an inguinal hernia. Conclusions. We discuss the epidemiology and clinical presentation of acute abdomen of Ascaridiasis and intraoperative study. Source
Intrauterine device partially migrated and embedded in the serous rectosigmoid eight years after insertion [Dispositivo intrauterino parcialmente migrado e incrustado en serosa de rectosigmoides tras 8 años de inserción]
Sandra Bernuy P.,Peruvian University of Applied Sciences |
Maria Cristina Rivera N.,Peruvian University of Applied Sciences |
Carmen Salazar L.,Peruvian University of Applied Sciences |
Fernando Ramirez C.,Servicio de Gineco Obstetricia |
And 2 more authors.
Revista Chilena de Obstetricia y Ginecologia | Year: 2015
It is shown the clinical case of an intrauterine device partially migrated to the pelvic cavity and embedded in the serous rectosigmoid eight years after insertion. The diagnosis was made by transvaginal ultrasound and laparoscopy removal of the device by laparoscopy. Suture of rectum serous and uterus were performed. The patient had an uneventful postoperative course. Source