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排序方式: 共有681条查询结果,搜索用时 15 毫秒
1.
R Achiron Y Zalel S Lipitz J Hegesh R Mazkereth J Kuint J Jacobson S Yagel 《Ultrasound in obstetrics & gynecology》2004,24(2):127-133
OBJECTIVE: To evaluate the clinical application of a new classification system of fetal lung anomalies. METHODS: Forty fetal diagnoses of lung lesions were analyzed according to our proposed classification system in which each lung component is considered using two-dimensional ultrasound and color and power Doppler technology. Medical files, natural history and neonatal follow-up were recorded. RESULTS: Type I dysplasia: Four cases of agenesis of the lung were diagnosed, three with right lung agenesis and one with left lung agenesis. Three of the four patients elected to undergo termination of pregnancy (TOP). The surviving fetus was diagnosed with scimitar syndrome and postnatal embolization of the aberrant vessel was performed. Type II dysplasia: One case of normal lung with abnormal systemic feeding artery was diagnosed with normal neonatal outcome. Type III dysplasia: Abnormal lung with abnormal vascularity was found in 14 cases, presenting in most cases as echogenic lung masses. Seven were supradiaphragmatic, six subdiaphragmatic and one case was of undetermined position. All 14 fetuses showed an aberrant systemic artery emerging from the aorta. Abnormal venous drainage could be identified in only five (36%) of the fetuses: three had prominent azygos vein, one showed drainage to the inferior vena cava and one had multiple intrapulmonary veins forming a huge arteriovenous (A-V) shunt. Two cases in this group underwent TOP, the case with A-V shunt following development of hydrops, and one on maternal request. The remaining 12 fetuses (86%) survived and were alive and well at the time of writing; only one of them needed immediate postnatal embolization of the bilateral aberrant feeding arteries. Type IV dysplasia: Abnormal lung with no vascular abnormality was diagnosed in 20 fetuses. In this group there was one case of intrauterine fetal death, two patients underwent TOP, one complicated with hydrops and one on maternal request. The survival rate in this group was 85%. Only two cases needed immediate surgical repair. Type V miscellaneous dysplasia: One fetus demonstrated echogenic lung with split notochord syndrome and survived. CONCLUSIONS: Congenital bronchopulmonary and related vascular anomalies can be categorized using the new classification system. This new approach enabled prenatal evaluation of each lung component and facilitated cogent management of the fetus with congenital lung dysplasia. 相似文献
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Spontaneous ovarian hyperstimulation mimicking an ovarian tumour 总被引:1,自引:1,他引:0
Lipitz Shlomo; Grisaru Dan; Achiron Reuwen; Ben-Baruch Gilad; Schiff Eyal; Mashiach Shlomo 《Human reproduction (Oxford, England)》1996,11(4):720-721
Ovarian hyperstimulation syndrome in a spontaneous singletonpregnancy is exceedingly rare. We report a case of ovarian hyperstimulationpresenting as bilateral ovarian masses in association with spontaneouspregnancy, occurring in a woman with disturbed liver function.A possible mechanism is discussed. 相似文献
4.
Achiron R Heggesh J Grisaru D Goldman B Lipitz S Yagel S Frydman M 《American journal of medical genetics》2000,92(3):159-165
Noonan syndrome is one of the most common of genetic syndromes and manifests at birth, yet it is usually diagnosed during childhood. Although prenatal diagnosis of Noonan syndrome is usually not possible, in a few cases the ultrasonographic findings suggested the diagnosis in utero. Reported sonographic clues include septated cystic hygroma, hydrothorax, polyhydramnios, and cardiac defects, such as pulmonic stenosis and hypertrophic cardiomyopathy. During a 6-year period, 46,224 live-born infants were delivered at the Chaim Sheba Medical Center. Seven newborn infants and four fetuses were found to have Noonan syndrome. One fetus showed transient nuchal translucency of 4 mm and bilateral neck cysts at the 13th gestational week. Both findings resolved spontaneously by the 18th gestational week, but during the third trimester this fetus developed hydrothorax, skin edema, and polyhydramnios. In the three other fetuses, first- and second-trimester ultrasonographic findings were normal, and the diagnosis of Noonan syndrome was suggested only during the third trimester. All three fetuses had polyhydramnios and skin edema. A cardiac malformation, hydrothorax, and a large head were present in one fetus. Sonographic facial findings were investigated. In all four fetuses posteriorly angulated, apparently low-set ears and depressed nasal bridge were identified. Wide nasal base was seen in two fetuses. In two fetuses, persistent opening of the fetal mouth was interpreted as fetal hypotonia. One fetus developed progressive postnatal hypertrophic cardiomyopathy and in one case, pulmonic stenosis became apparent at age 6 months. This small series suggests that Noonan syndrome has an evolving phenotype during in utero and postnatal life. Amelioration of early nuchal region findings and late onset of the more "typical" ultrasonographic changes may limit early prenatal detectability. 相似文献
5.
Masahiro Yamashita Anat Achiron Tomoyuki Miura Jun Takehisa Eiji Ido Tatsuhiko Igarashi Kentaro Ibuki Mitsuhiro Osame Shunro Sonoda Eldad Melamed Prof. Masanori Hayami Batya Shohat 《Virus genes》1995,10(1):85-90
A new endemic focus of human T-lymphotropic virus type I (HTL V-I) was recently reported among Mashhadi Jews, a group of immigrants from northeastern Iran to Israel. We extracted DNAs from fresh peripheral blood mononuclear cells (PBMCs) and/or gargle mouthwash from 10 HTL V-I carriers, who consisted of members of one family, and HTL V-I-associated myelopathy (HAM) and adult T-cell leukemia (ATL) patients. Long terminal repeat (LTR) regions of proviral DNAs were sequenced and analyzed phylogenetically. In a phylogenetic tree, all the Mashhadi HTL V-I isolates belonged to subtype A, one of the three subtypes of the cosmopolitan type of HTL V-I, and made a tight cluster distinct from the other isolates of subtype A from Japan, India, the Caribbean Basin, and South America. Although a few nucleotide substitutions were observed among the clones sequenced, no characteristic sequence variation was found in different disease manifestations, even in one family or different sources of DNA preparation. 相似文献
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Hagit Daum Hagar Mor‐Shaked Asaf Ta‐Shma Avraham Shaag Shira Silverstein Mordechai Shohat Orly Elpeleg Vardiella Meiner Tamar Harel 《American journal of medical genetics. Part A》2020,182(4):689-696
Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband‐only sequencing, mainly due to the rapid identification of de novo disease‐causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including mosaicism in the parent, incomplete penetrance, imprinting, or skewed X‐inactivation. We report three probands, in which a pathogenic or likely pathogenic variant was identified upon exome sequencing, yet was inherited from an unaffected parent. Segregation of the variants (in NOTCH1, PHF6, and SOX10) in the grandparent generation revealed that the variant was de novo in each case. Additionally, one proband had skewed X‐inactivation. We discuss the possible genetic mechanism in each case, and urge caution in data interpretation of exome sequencing data. We illustrate the utility of expanding segregation studies to the grandparent generation and demonstrate the impact on exome interpretation strategies, by showing that objective genotype data can overcome subjective parental report of lack of symptoms. 相似文献
8.
Ronit Calderon-Margalit Oren Pleniceanu Dorit Tzur Michal Stern-Zimmer Arnon Afek Tomer Erlich Guy Verhovsky Lital Keinan-Boker Karl Skorecki Gilad Twig Asaf Vivante 《Journal of the American Society of Nephrology : JASN》2021,32(2):495
BackgroundIncreasing cancer incidence among children alongside improved treatments has resulted in a growing number of pediatric cancer survivors. Despite childhood cancer survivors’ exposure to various factors that compromise kidney function, few studies have investigated the association between childhood cancer and future kidney disease.MethodsTo assess the risk of ESKD among childhood cancer survivors, we conducted a nationwide, population-based, retrospective cohort study that encompassed all Israeli adolescents evaluated for mandatory military service from 1967 to 1997. After obtaining detailed histories, we divided the cohort into three groups: participants without a history of tumors, those with a history of a benign tumor (nonmalignant tumor with functional impairment), and those with a history of malignancy (excluding kidney cancer). This database was linked to the Israeli ESKD registry to identify incident ESKD cases. We used Cox proportional hazards models to estimate the hazard ratio (HR) of ESKD.ResultsOf the 1,468,600 participants in the cohort, 1,444,345 had no history of tumors, 23,282 had a history of a benign tumor, and 973 had a history of malignancy. During a mean follow-up of 30.3 years, 2416 (0.2%) participants without a history of tumors developed ESKD. Although a history of benign tumors was not associated with an increased ESKD risk, participants with a history of malignancy exhibited a substantially elevated risk for ESKD compared with participants lacking a history of tumors, after controlling for age, sex, enrollment period, and paternal origin (adjusted HR, 3.2; 95% confidence interval, 1.3 to 7.7).ConclusionsChildhood cancer is associated with an increased risk for ESKD, suggesting the need for tighter and longer nephrological follow-up. 相似文献
9.
The relationships between endometrial thickness, and blood flow and pregnancy rates in in-vitro fertilization 总被引:5,自引:0,他引:5
To establish whether endometrial blood flow and thickness can predict the success rate of in-vitro fertilization, 156 cycles were evaluated. The parameters were: endometrial colour and power Doppler pulsatility index (PI), resistance index (RI), systolic/diastolic ratio (S/D) and endometrial thickness. Each patient was studied: on the day of ovum retrievalpickup, and on the day of embryo transfer. Non-endometrial parameters studied were: age, oestrestrogen and progesterone concentrations, number of oocytes, and number of embryos. Pregnancy was achieved in 31 cycles. On the day of ovum retrieval, patients who conceived had PI, RI, and S/D values of 0.997, 0.563, and 2.403, respectively. Patients who did not conceive had values of 0.994, 0.584, and 2.477 respectively. The power Doppler technique provided similar results. On the day of embryo transfer, pregnant patients had PI, RI and S/D values of 1.096, 0.590 and, 2.597 respectively, while in the non-pregnant patients the values were 1.104, 0.603 and, 2.723 respectively. Power Doppler showed similar numbers. The differences between pregnant and non-pregnant patients were not statistically significant in any of the parameters. Endometrial thickness and blood flow does not seem to correlate with pregnancy rate in IVF. 相似文献
10.
D. Stein R. Maayan A. Ram R. Loewenthal A. Achiron D. Modan-Moses M. Feigin A. Weizman A. Valevski 《European neuropsychopharmacology》2005,15(6):647-653
Nineteen female adolescent inpatients diagnosed with anorexia nervosa, restricting type (AN-R) and 16 non-eating disordered (ED) controls were assessed for plasma dehydroepiandrosterone (DHEA), dehydroepiandrosterone-sulphate (DHEA-S), and cortisol levels, and for eating-related and non-eating-related psychopathology. AN-R patients were assessed at admission, 1 month and 4 months following hospitalization. The non-ED controls were assessed once. No baseline between-group differences were found in plasma cortisol, DHEA, and DHEA-S levels, whereas the patient group had a significantly lower Cortisol/DHEA-S ratio and elevated scores on most psychopathological parameters. A significant increase was found in the body mass index of the AN-R patients at 4 months post-hospitalization, accompanied by a decrease in plasma cortisol levels and a trend towards decreased Cortisol/DHEA and Cortisol/DHEA-S ratios, whereas no change occurred in psychopathology. The difference in Cortisol/DHEA-S ratio between AN-R patients and non-ED controls, and the different patterns of change in cortisol vs. DHEA(-S) levels following weight restoration, may in part account for the feeding difficulties in AN, particularly during refeeding. 相似文献