ABSTRACT
Nr2e1 encodes a stem cell fate determinant of the mouse forebrain and retina. Abnormal regulation of this gene results in retinal, brain, and behavioral abnormalities in mice. However, little is known about the functionality of human NR2E1. We investigated this functionality using a novel knock-in humanized-mouse strain carrying a single-copy bacterial artificial chromosome (BAC). We also documented, for the first time, the expression pattern of the human BAC, using an NR2E1-lacZ reporter strain. Unexpectedly, cerebrum and olfactory bulb hypoplasia, hallmarks of the Nr2e1-null phenotype, were not fully corrected in animals harboring one functional copy of human NR2E1. These results correlated with an absence of NR2E1-lacZ reporter expression in the dorsal pallium of embryos and proliferative cells of adult brains. Surprisingly, retinal histology and electroretinograms demonstrated complete correction of the retina-null phenotype. These results correlated with appropriate expression of the NR2E1-lacZ reporter in developing and adult retina. We conclude that the human BAC contained all the elements allowing correction of the mouse-null phenotype in the retina, while missing key regulatory regions important for proper spatiotemporal brain expression. This is the first time a separation of regulatory mechanisms governing NR2E1 has been demonstrated. Furthermore, candidate genomic regions controlling expression in proliferating cells during neurogenesis were identified.
Subject(s)
Brain/abnormalities , Receptors, Cytoplasmic and Nuclear/genetics , Receptors, Cytoplasmic and Nuclear/metabolism , Retina/abnormalities , Animals , Brain/embryology , Brain/metabolism , Gene Expression Regulation, Developmental , Gene Knock-In Techniques , Genome , Humans , Lac Operon , Male , Mice , Mice, Inbred C57BL , Orphan Nuclear Receptors , Phenotype , Retina/embryology , Retina/metabolismABSTRACT
BACKGROUND: The diagnosis of twin pregnancy can be made early in pregnancy by ultrasonography (US). Follow-up examination occasionally demonstrates the disappearance of one of the twins. CASE: A twin disappeared on US examination; the surviving twin exhibited signs of fetal alcohol syndrome and other congenital anomalies, accompanied by a placental form of fetus papyraceus. CONCLUSION: Early US examination is useful for diagnosing multiple gestation. However, a follow-up examination is required to alert the clinician to the disappearance of one twin. Careful examination of the placenta may document fetal remnants. In this case a small, atretic nodule on the placental surface was evidence of the vanished twin.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Diseases in Twins/diagnosis , Fetal Alcohol Spectrum Disorders/diagnostic imaging , Fetal Resorption/diagnostic imaging , Ultrasonography, Prenatal , Abnormalities, Multiple/etiology , Adult , Alcoholism/complications , Cataract/congenital , Cataract/diagnostic imaging , Chronic Disease , Corneal Opacity/congenital , Corneal Opacity/diagnostic imaging , Diseases in Twins/etiology , Female , Fetal Alcohol Spectrum Disorders/etiology , Fetal Resorption/etiology , Humans , Infant, Newborn , Macroglossia/congenital , Macroglossia/diagnostic imaging , Male , Pregnancy , Pregnancy ComplicationsABSTRACT
OBJECTIVE: To develop a method of identifying bony pelvic dystocia in a select group of primiparae who had had a cesarean delivery and might be at risk during a trial of labor in a subsequent pregnancy. STUDY DESIGN: Radiopelvimetry was performed on 70 postpartum primiparae after cesarean delivery for various reasons and prior to being discharged from the hospital. RESULTS: Using standard radiologic criteria, the pelvis was considered adequate in 32 patients (45.7%) and inadequate in 38 (54.2%). CONCLUSION: Postcesarean pelvimetry may be beneficial in some primiparae because it can guide the obstetrician in performing a cesarean delivery in subsequent pregnancies without an unnecessary trial of labor.
Subject(s)
Cesarean Section , Dystocia/diagnostic imaging , Pelvic Bones/diagnostic imaging , Adult , Delivery, Obstetric , Female , Humans , Parity , Pelvimetry/methods , Postpartum Period , Pregnancy , Radiography , Retrospective Studies , Vaginal Birth after CesareanABSTRACT
A recurrent abscess of the thigh, associated with a broad ligament abscess, presented in a postmenopausal woman with cirrhosis of the liver. This unusual complication has not been reported before. The risk of serious morbidity and mortality from the combination of these two coexisting lesions is obvious, and gynecologists and surgeons should be prepared for early surgical intervention.
Subject(s)
Abscess/diagnosis , Ovarian Neoplasms/diagnosis , Staphylococcal Infections/diagnosis , Thigh , Chronic Disease , Diagnosis, Differential , Female , Humans , Middle Aged , Recurrence , Retroperitoneal SpaceABSTRACT
A case of simultaneous intrauterine and extrauterine pregnancy with hemoperitoneum during labor is presented. The hemoperitoneum from the tubal pregnancy occurred sufficiently late during pregnancy to mimic a placental abruption. The difficulty of diagnosing heterotopic pregnancy is stressed.
Subject(s)
Abruptio Placentae/diagnosis , Hemoperitoneum/etiology , Pregnancy, Ectopic/complications , Pregnancy, Ectopic/diagnosis , Pregnancy , Adult , Cesarean Section , Diagnostic Errors , Fallopian Tubes/cytology , Female , Humans , LaparotomyABSTRACT
This study compared the efficacy of a single intravenous dose of Cefazolin alone or combined with an antibiotic containing preclosure-irrigation solution in patients undergoing cesarean section. A total of 308 patients were prospectively assigned to two groups by randomization. Group I received two grams of Cefazolin IV and abdomino-peritoneal irrigation with saline. Group II received one gram of Cefazolin IV and one gram in the saline irrigation solution. The rate of total postoperative morbidity was 2.3 times higher in Group I compared to Group II (16/154 or 10.4% vs 7/154 or 4.5%) and morbidity at the operative site was six times higher (13/154 or 8.4% vs 2/154 or 1.3%).
Subject(s)
Bacterial Infections/prevention & control , Cefazolin/administration & dosage , Cesarean Section/adverse effects , Postoperative Complications/prevention & control , Adolescent , Adult , Bacterial Infections/epidemiology , Cefazolin/therapeutic use , Female , Humans , Infusions, Intravenous , Lung Diseases/prevention & control , Morbidity , Postoperative Complications/epidemiology , Postpartum Period , Pregnancy , Surgical Wound Infection/prevention & control , Therapeutic Irrigation , Urinary Tract Infections/prevention & controlABSTRACT
A case of microscopically proven bilateral ectopic pregnancy (EP) is described. Salpingectomy and linear salpingostomy were performed. Shortly after recovery from surgery for EP, another conception occurred.
Subject(s)
Fertility , Pregnancy, Tubal/diagnosis , Adult , Female , Humans , Pregnancy , Pregnancy, Tubal/surgeryABSTRACT
A case of vulvar hematoma resulting from cunnilingus occurred in an alcoholic woman. Incision and drainage with debridement of devitalized tissues, systemic antibiotics covering both anaerobes and aerobes, and counseling are usually required for the optimal result in such cases.