ABSTRACT
We aim to determine the spectrum of cytogenetic abnormalities and outcomes in unbalanced offspring of asymptomatic constitutional balanced t(9;22) carriers through a systematic literature review. We also include a case of a constitutional balanced t(9;22) carrier from our institution. Among the 16 balanced t(9;22) carriers in our review, 13 were maternal and 3 were paternal. Of the 15 unbalanced translocation cases identified, 13 were live births, one was a missed abortion, and one resulted in pregnancy termination. The spectrum of established syndromes reported among the live births was the following: trisomy 9p syndrome (6/13), dual trisomy 9p and DiGeorge syndrome (3/13), dual 9q subtelomere deletion syndrome and DiGeorge syndrome (1/13), 9q subtelomere deletion syndrome (1/13), and DiGeorge syndrome (1/13). One unbalanced case did not have a reported syndrome. The phenotype of the unbalanced cases included cardiac abnormalities (5/13), neurological findings (7/13), intellectual disability (6/10), urogenital anomalies (3/13), respiratory or immune dysfunction (3/13), and facial or skeletal dysmorphias (13/13). Any constitutional balanced reciprocal t(9;22) carrier should be counseled regarding the increased risk of having a child with an unbalanced translocation, the spectrum of possible cytogenetic abnormalities, and predicted clinical phenotype for the unbalanced derivative.
ABSTRACT
ABSTRACT Objective: There is insufficient evidence about the impact of cesarean delivery on maternal request (CDMR). This study was designed to evaluate different maternal and neonatal outcomes comparing CDMR with vaginal deliveries in low-risk pregnancies. Materials and methods: Prospective observational study including women aged 18 to 45 with a low-risk, term pregnancy, who delivered between June 2008 and April 2012 at a University Hospital in Bogota Colombia. The occurrence of any of 5 pre-specified adverse maternal events (maternal outcome) and of any of 17 pre-specified adverse neonatal events (neonatal outcome) was compared between CDMR and vaginal deliveries. Induced vaginal deliveries were analyzed separately. All women received the same standard of care. The effect of confounders was adjusted using multivariate logistic regression. Results: The study included 214 women with CDMR, 341 with spontaneous vaginal delivery (SVD) and 376 with induced vaginal delivery (IVD). Relative to the SVD group, the multivariate-adjusted odds ratios for adverse maternal outcomes were 0.21 (95% CI: 0.05-0.97) in the CDMR group and 0.93 (95% CI: 0.42-2.06) in the IVD group. The multivariate ORs for adverse neonatal outcomes were 0.59 (95% CI: 0.36-0.93) for CDMR and 0.84 (95% CI: 0.59-1.21) for IVD. The frequency of hospitalization of the newborn was lowest in the cesarean delivery group (10.3% versus 15.8% for spontaneous deliveries, 16.2% for induced vaginal deliveries). Conclusions: Among low-risk pregnancy women who entered a standardized obstetric care protocol, CDMR was associated with a lower rate of adverse perinatal outcomes when compared to spontaneous vaginal delivery. Further studies are needed to assess long-term the safety of CDMR.
RESUMEN Objetivo: Existe evidencia insuficiente sobre el impacto de la cesárea por solicitud materna (CSM); este estudio evalúa el efecto de la CSM en los múltiples desenlaces maternos y neonatales comparando CSM con parto vaginal entre embarazos de bajo riesgo. Materiales y métodos: Estudio observacional prospectivo que incluyó mujeres entre 18 y 45 años de edad, con un embarazo a término y de bajo riesgo, que tuvieron parto entre junio de 2008 y abril de 2012 en un hospital universitario en Bogotá, Colombia. Se comparó la ocurrencia de cualquiera de 5 eventos adversos maternos preespecificados, y de cualquiera de 17 eventos neonatales preespecificados, entre CSM y partos vaginales. Los partos vaginales inducidos fueron analizados separadamente. Todas las mujeres recibieron el mismo cuidado estandarizado. El efecto de variables confusoras se ajustó mediante regresión logística múltiple. Resultados: Se incluyeron 214 mujeres con CSM, 341 con parto vaginal espontáneo (PVE) y 376 con parto vaginal inducido (PVI). Respecto al grupo PVE, el OR ajustado del desenlace materno fue 0,21 (IC 95 %: 0,05-0,97) en el grupo CSM y 0,93 (IC 95%: 0,42-2,06) en el grupo PVI. El OR de presentar un mal desenlace neonatal fue: 0,59 (95% CI: 0,36-0,93) para CSM y 0,84 (95% CI: 0,59-1,21) para PVI. La frecuencia de hospitalización del neonato más baja fue en el grupo de CSM (10,3 % frente a 15,8 % para PVE, 16,2 % para PVI). Conclusiones: En pacientes con embarazo de bajo riesgo que ingresaron a un protocolo estándar de cuidado obstétrico, CSM se acompañó de una menor tasa de eventos adversos perinatales respecto al parto vaginal espontáneo. Sin embargo, se requieren estudios que evalúen la seguridad de CSM en el largo plazo.
Subject(s)
Female , Adult , Hysterectomy , Hysterectomy, Vaginal , Quality of LifeABSTRACT
Parasitic myomas are rare and their ethiopathogenesis is uncertain. They may develop from a detached fibroid adhering to an extrauterine surface in order to obtain new blood supply. It has been stated that they form from uterine or myoma fragments left behind after morcellation in the abdominopelvic cavity and thus are called "iatrogenic". Surgeons must be aware of this recently reported complication related to the increasing number of laparoscopic procedures. Thorough inspection and washing of the abdominal cavity are recommended. A case of a patient with iatrogenic parasitic myomas, which appeared six years after a laparoscopic supracervical hysterectomy involving a morcellator, is reported.
Subject(s)
Hysterectomy/adverse effects , Laparoscopy/adverse effects , Leiomyoma/surgery , Leiomyomatosis/etiology , Neoplasm Seeding , Uterine Cervical Neoplasms/secondary , Adult , Diagnosis, Differential , Endometrial Stromal Tumors/diagnosis , Equipment Design , Female , Humans , Hysterectomy/instrumentation , Hysterectomy/methods , Laparoscopes , Laparoscopy/methods , Leiomyomatosis/diagnosis , Leiomyomatosis/surgery , Sarcoma/diagnosis , Uterine Cervical Neoplasms/diagnosis , Uterine Cervical Neoplasms/surgeryABSTRACT
La paracoccidioidomicosis producida por el Paracoccidioides brasiliensis es una micosis sistémica que afecta principalmente los pulmones y puede comprometer mucosas, piel, sistema reticuloendotelial, hueso y glándulas suprarrenales. Esta enfermedad es una importante causa de insuficiencia suprarrenal en Brasil y en estudios posmortem se encuentra compromiso de estas hasta en el 80% de los casos. Se presenta el caso de un campesino, con masa de seis centímetros de diámetro en ojo izquierdo, hospitalizado por alteración del estado de conciencia, deshidratación e hipotensión. Las pruebas de laboratorio indican alteración electrolítica. Recibe manejo con líquidos endovenosos sin mejoría y posteriormente fallece. El estudio de autopsia evidencia compromiso pulmonar, linfático y suprarrenal por Paracoccidioides brasiliensis...
Paracoccidioides brasiliensis causes a systemic infection that primarily affects lungs, but can also target mucous membranes, skin, reticuloendothelial system, bone, and adrenal glands. This disease constitutes an important cause of adrenal insufficiency in Brazil and studies posmortem show that the adrenal glands are compromised in as many as 80% of cases. This is the case of a farmer who presented with a mass of 6 cm in diameter in his left eye. He was hospitalized for altered state of consciousness, dehydration, and hypotension. Laboratory tests indicated electrolytes disturbance. He received management with intravenous fluids without improvement and subsequently died. The autopsy evidenced lung, lymphatic, and adrenal compromiso by Paracoccidioides brasiliensis...
