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1.
The current observations have documented rare vascular anomalies in the right and left kidneys from a male and female cadaver, respectively. In the female left kidney in addition to being supplied by the normal renal artery and vein it contained a left lower polar renal artery and vein. The polar artery took origin from the inferior mesenteric artery to supply the lower pole and was drained by the left lower polar vein that opened into the left common iliac vein. The right kidney from a male cadaver showed supernumerary renal arteries and veins. The supernumerary upper renal artery took origin from the aorta and after a short course it gave rise into a cranial branch that took a long course to supply the lower pole and a caudal branch that entered the right kidney at the hilum. The supernumerary lower renal artery also took origin from the aorta and passed to supply the lower pole of the right kidney. Therefore, the lower pole of the right kidney received two arteries, but was not associated with a polar vein. The right kidney in addition to the normal right renal vein contained a supernumerary right renal vein. The vein was seen at the hilum and was the most posterior structure; passing behind the supernumerary lower renal artery to open into the posterior surface of the inferior vena cava. The anomalies described in the current observation present a unique pattern of congenital renal vascular abnormalities that may be of surgical importance. 相似文献
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Kiat Yeong Chan Enid Gilbert-Barness George Tiller 《Fetal and pediatric pathology》2003,22(4):277-283
A 34 year-old gravida 2 para 1 (1001) mother was on prophylactic anticoagulation therapy because of pulmonary emboli postabdominal surgery. The pregnancy was terminated at 25 weeks' gestation after ultrasound examination showed a mild hydrocephalus and a cardiac structural defect. Congenital abnormalities of the delivered fetus included nasal hypoplasia, earfold atresia, bilobled lungs, coarctation of the aorta, ventriculuar septal defect, gastroschisis, and radiographic skeletal stippling. The radiological and physical findings were consistent with warfarin embryopathy. 相似文献
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《Annales d'endocrinologie》2017,78(3):156-161
ObjectiveSteroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY), it is known that mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum with variable degrees of undervirilization. In recent years, the role of SF-1 in the ovarian function was increasingly discussed and alterations in the gene were related to primary ovarian insufficiency. We describe the follow-up of a 46, XX affected woman with a SF-1 mutation and by comparing our case with the known manifestations reported in the literature, we try to further elucidate the function of SF-1 in the ovary.ResultsDuring infancy, adrenal insufficiency was the only clinical sign of the loss-of-function as ovarian development and function seemed normal. To date, this young woman aged 16.5 years shows normal growth, normal BMI and psychomotor development, has a normal puberty and regular menstruation.ConclusionThis report shows one, to date uniquely described, phenotypic variant of SF-1 mutation in a 46, XX affected person with adrenocortical insufficiency but no ovarian dysfunction nor disturbance of pubertal development. To follow the natural history of SF-1 mutation in a 46, XX individual will further shed light on its role in the ovarian function and thus will help to counsel affected patients in future. 相似文献
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Diabetic embryopathy is a theoretical enigma and a clinical challenge. Both type 1 and type 2 diabetic pregnancy carry a significant risk for fetal maldevelopment, and the precise reasons for the diabetes-induced teratogenicity are not clearly identified. The experimental work in this field has revealed a partial, however complex, answer to the teratological question, and we will review some of the latest suggestions. 相似文献
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Kassahun Birhanu Workneh Tesfaye Melkamu Berhane 《Ethiopian journal of health sciences》2021,31(6):1155
BackgroundCongenital anomalies affect 2–3% of all live births. Anomalies of the central nervous system account for the highest incidence followed by that of the cardiovascular and renal systems. There is scarcity of data in developing countries like Ethiopia. The aim of the study was determining the magnitude and type of congenital anomalies and associated factors in neonates admitted to the neonatology ward of Jimma Medical Center, Southwest Ethiopia.MethodsInstitution based cross sectional study was done from March 1 to July 30, 2020. A total of 422 mother-infant pairs were enrolled into the study. Structured questionnaires were used to capture the socio-demographic, obstetric and medical characteristics of the mothers, demographic characteristics of the infants and type of congenital anomalies. Univariate and multivariate logistic regression analyses were done and results are presented as narratives and using figures and tables.ResultsCloser to one in five neonates admitted to the neonatology ward (78, 18.5%, 95%CI 14.7–22.3) had congenital anomalies; the majority (59, 13.98%) having only one type of anomaly. Anomalies of the nervous system (29, 6.87%) and gastrointestinal system (24, 5.68%) accounted for the majority of the cases. Inadequate antenatal care follow-up (p=0.018, AOR=1.9, 95%CI1.115, 3.257) and lack of folate supplementation during pregnancy (p=0.027, AOR=2.35, 95%CI 1.101, 5.015) were associated with congenital anomalies in the neonates.ConclusionCongenital anomalies account for significant number of admissions. Significant association was seen between neonatal congenital anomalies and poor antenatal attendance and lack of folic acid supplementation during pregnancy. 相似文献
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John M. Opitz Enid Gilbert-Barness Jeanie Ackerman Amy Lowichik 《Fetal and pediatric pathology》2002,21(2):153-181
The half-century of lipophobia in the United States may be abating with some return of sanity on the discussion of health and dietary fat [Taubes, 2001]. The youngest victims of this collective, decades long madness are those infants deprived for one reason or another of breast milk. They are unable to speak for themselves at a time of greatest need for cholesterol during growth, the most critical period of myelination of central and peripheral nervous system, formation of bone and bile, and of every steroid hormone. Some of the commercial formulas they are fed contain only 1 or 2 mg of cholesterol per 100 g edible portion contrasted with almost 14 mg in breast milk. One can only hope that the confidence in their endogenous ability to synthesize sufficient amounts of cholesterol is not misplaced. Pediatric pathology has learned that when this endogenous ability fails during embryogenesis on the basis of mutations in the postsqualene biosynthesis of cholesterol, a startling variety of developmental pathology may present itself ranging from lethal forms of "idiopathic" hydrops, microcephaly with cerebral dysgenesis and dysmyelinization, agenesis of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis, adrenal (cortical) insufficiency, cholestatic liver disease, limb malformations, and genital ambiguity in genetic males. Population genetic considerations suggest a hypothetical birth prevalence of the RSH (so-called Smith-Lemli-Opitz) syndrome, the commonest of these Garrodian errors of cholesterol biosynthesis, of 1/2500; since only about 1/15,000 to 1/20,000 homozygotes are liveborn and biochemically confirmed, over 80% prenatal or perinatal mortality must occur and deserves the most discerning of services from birth attendants, perinatologists, neonatologists, and fetal/pediatric pathologists. An easy, reliable, economical biochemical test for the presence of 7-dehydrocholesterol is available and the commonest mutation, the IVS8-1G →C mutation, is quickly and reliably tested for molecularly. Thus, the successful diagnosis, even after death, will contribute substantially to correct genetic counseling, carrier detection, prenatal diagnosis, and treatment in those known to be affected prenatally and planned to be liveborn. Thus, developmental pathology plays an integral, vital role in preventive medicine. 相似文献