1/10. Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis.in vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a dna testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/10. Acute and post-traumatic stress disorder after spontaneous abortion.When a spontaneous abortion is followed by complicated bereavement, the primary care physician may not consider the diagnosis of acute stress disorder or post-traumatic stress disorder. The major difference between these two conditions is that, in acute stress disorder, symptoms such as dissociation, reliving the trauma, avoiding stimuli associated with the trauma and increased arousal are present for at least two days but not longer than four weeks. When the symptoms persist beyond four weeks, the patient may have post-traumatic stress disorder. The symptoms of distress response after spontaneous abortion include psychologic, physical, cognitive and behavioral effects; however, patients with distress response after spontaneous abortion often do not meet the criteria for acute or post-traumatic stress disorder. After spontaneous abortion, as many as 10 percent of women may have acute stress disorder and up to 1 percent may have post-traumatic stress disorder. Critical incident stress debriefing, which may be administered by trained family physicians or mental health practitioners, may help patients who are having a stress disorder after a spontaneous abortion.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/10. Bilateral subpleural ectopic brain tissue in a 23-week-old fetus.Bilateral lesions were seen in the subpleural region in a 23-week-old aborted male fetus. This fetus was not macerated and showed no central nervous system abnormality on physical examination and vertebral magnetic resonance imaging (MRI). Postmortem examination revealed bilateral, paravertebral, subpleural, circumscribed, yellowish-white, fluent lesions 2.5 x 1 x 1 cm in size. These lesions were localized on the upper part of both lungs and there was no other internal malformation. Histological examination of lesions showed adult neurones and well-differentiated neural tissue with white and gray matter, choroid plexus, ependymal structures and, rarely, some peripheral neural cells in addition to immature neuroectodermal cells. These cells were more mature than those in the brain tissue.- - - - - - - - - - ranking = 5.5075549006384keywords = physical examination, physical (Clic here for more details about this article) |
4/10. Successful pregnancy after preimplantation genetic diagnosis in a female with Robertsonian translocation.Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.- - - - - - - - - - ranking = 5.5075549006384keywords = physical examination, physical (Clic here for more details about this article) |
5/10. endometriosis.endometriosis is a common disease associated with pelvic pain and infertility. The etiology and physiology are poorly understood, often frustrating clinicians and patient. Treatment may be medical or surgical, or a combination of these. nursing care involves education of couples about endometriosis and its physical and psychological implications.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/10. A case of suspected teratogenic holoprosencephaly.A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/10. The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome.We describe a family in which seven pregnancies resulted in four infants who died and in three abortions. During these pregnancies the mother took trimethadione (Tridione), as well as other anticonvulsants. Two normal children were born after treatment with all medications were stopped. There have now been 53 reported pregnancies in which the fetuses were exposed to trimethadione or paramethadione; 48 (87%) resulted in fetal loss or a child born with congenital malformations. The most common defects include malformed ears, cleft palate, cardiac defects, urogenital malformations, and skeletal abnormalities. Delayed mental and physical development were also seen. These findings constitute a clinical entity termed the fetal trimethadione syndrome. The malformation rate is believed to be due to the teratogenic effects of trimethadione. physicians need to be aware of the danger of trimethadione and related drugs during pregnancy and should withhold these medications during this period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/10. Complete trisomy 22.Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/10. Complete abortion of early ectopic pregnancy.Abortion of an early ectopic pregnancy is a rarely diagnosed event. Coincidental serial hormonal studies performed on a patient suffering from idiopathic secondary infertility enabled the authors to record plasma estradiol, progesterone and beta-human chorionic gonadotropin concentrations, which, combined with the physical findings, ultrasonography and laparoscopy, led to the diagnosis of a complete abortion of an early ectopic pregnancy. Apart from slight vaginal bleeding on day 44 of a prolonged cycle, the patient was asymptomatic throughout and the importance of plasma beta-human chorionic gonadotropin determination in such a situation is discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/10. grief and depression after miscarriage: their separation, antecedents, and course.bereavement is a major risk factor for physical illness, grief, depression, and anxiety. In contrast to recent tendencies in the psychiatric literature to equate grief and depression, we propose that a careful discrimination between the two must be made for diagnostic, therapeutic, and investigative purposes. We report the results of a longitudinal study of a frequent but neglected event, miscarriage early in pregnancy, to make this point. Clinical criteria for differentiating grief and depressive reactions were developed based on phenomenological criteria and theoretical considerations. We hypothesized that the detrimental psychological and physical consequences occur only when the miscarriage was not mourned and resulted in a depressive reaction, but not in a grief reaction. In a controlled, representative study, 125 consecutive women were assessed shortly after their miscarriage (before the 20th week of gestation) and 6 months (N = 94) and 12 months (N = 90) later. Assessments included standardized questionnaires for life events, depression, physical complaints, anxiety, and a specific, multidimensional grief scale (Munich grief Scale) that we had developed previously. Immediately after the miscarriage, the average anxiety and depression scores were elevated when compared with 80 pregnant and 125 age-matched community controls. Twenty percent of the patients who had miscarried showed a grief reaction, 12% showed a depressive reaction, and 20% responded with a combined depressive and grief reaction. The remaining women (48%) reported no changes in their emotional reactions. As predicted, longer-lasting psychological, social, and health status changes followed the initial depressive, but not the grief reactions. Depressive reactions were predicted by a history of previous depression, a lack of social resources, and an ambivalent attitude to the lost fetus. The grief measures were reliable and made it possible to discriminate between grief and depression.- - - - - - - - - - ranking = 3keywords = physical (Clic here for more details about this article) |
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