H-Y antigen expression in patients with X-autosomal translocations and gonadal dysgenesis

Cells from three patients with early gonadal failure and a balanced reciprocal translocation involving the long arm of the X chromosome and an autosome were studied. Fibroblasts from a patient with a similar balanced reciprocal translocation but normal reproductive capabilities were also studied. Two of the four patients were found to have serologically detectable H-Y antigen on their cells. Since H-Y antigen has been found on the cells of other patients with X chromosome abnormalities but without a Y chromosome, it is thought that the X chromosome plays a role in the regulation of H-Y antigen expression. This study suggests that the long arm of the X chromosome may be involved but the location of a regulatory gene cannot be identified in these studies. These cases do not permit us to implicate H-Y antigen as a cause of gonadal dysgenesis and early gonadal failure in females who have structurally abnormal X chromosomes.     

Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic Stiff--Man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14

Amphiphysin is a protein peripherally associated with synapticvesicles. It is expressed in many neurons, certain endocrinecell types, and spermatocytes. Autoantibodies against amphiphysinoccur in patients afflicted with a rare neurologic autoimmunedisease, paraneoplastic Stiff—Man syndrome. To providea basis for the understanding of antl-amphiphysin autolmmunity,we have cloned cDNAs and determined the primary structure ofhuman amphiphysin. Comparison with chicken amphiphysin definesdomains of low and high amino acid sequence conservation. Asa candidate for heritable disorders of the nervous system, endocrinetissues or male fertility, the human amphiphysin gene was mappedto chromosome 7, region p13–p14.     

Mosaicism in amniotic fluid cell cultures: Classification and significance

The last decade has witnessed increasing application of human cytogenetic technology to prenatal chromosome analysis. However, unlike the rather uniform peripheral blood T-lymphocyte system which has provided most of our experience in human cytogenetics, long-term amniotic-fluid cell cultures display extreme cellular heterogeneity and disproportionate growth of certain cell types as a consequence of clonal amplification. When they enter cell culture, many of these cells are approching the terminal stages of their respective life spans and may have accumulated chromosomal aberrations. Concern about the possibility of true fetal mosaicism seems warranted chiefly in situations were multiple colonies display potentially viable aberrations. Clonal analysis, preferable of multiple clonal types, and attention to details of clonal morphology are likely to minimize diagnostic errors and undue apprehension resulting from mosaicism in amniotic-fluid cell cultures.     

The aniridia-Wilms tumor association: The critical role of chromosome band 11p13

The role of del (11)(p13) as a cause of aniridia, with and without Wilms tumor, is strengthened by demonstration of this chromosome aberration in 3 patients: monozygous twin girls, both of whom have aniridia and mental retardation and one of whom has a Wilms tumor; and an unrelated boy with aniridia and ambiguous genitalia. The break points defining the interstitial deletion for the twins are 11p13 and 11p15.1, while for the boy they are 11p1302 and 11p14.1. These patients and their karyotypes substantiate the critical importance of chromosome band 11p13 (or its hemizygous representation) in the development of aniridia and an associated Wilms tumor diathesis, as had been suggested previously (Riccardi VM, Sujansky E, Smith AC, Francke U, (1978): Pediatrics 61, 604-610).     

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

We have studied 4 patients with inverted tandem duplications of parts of chromosomes, a hitherto rarely identified from of a structural rearrangement involving a single chromosome in man. In Patients 1 and 2, the duplication involved parts of the short arm of chromosome 8 (regions 8p 12→8p23 and 8p21→8p23, respectively). Both patients manifested certain characteristics of the mosaic trisomy 8 syndrome. Elevated levels of glutathione reductase (GSR) in their erythrocytes supported the interpretation of a partial duplication of chromosome 8 and indicated a regional localization for the GSR gene locus. In Patient 3, the distal half of the long arm of chromosome 4 was duplicated (region4q26→4q35). Clinical evidence supported this interpretation, as Patient 3 resembled phenotypically the 13 reported cases with duplication of the distal 4q. The cytogenetic findings in Patient 4 suggested a possibly inverted duplication of 22q. The clinical correlation was less convincing due to the lack of a well-defined phenotype for trisomy 22. These chromosome aberrations had occurred de novo in all 4 cases. Although they involved different chromosomal regions, they might well have arisen by the same mechanism. Possible modes of origin that are discussed in detail include unequal exchange between homologous chromosomes, between chromatids of 1 chromosome or between strands of 1 DNA duplex.     

Emotionale Erschöpfung und Berufszufriedenheit von Lehrpersonal während der COVID-19-Pandemie

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Die COVID-19-Pandemie hat den beruflichen Alltag von Lehrpersonal erheblich verändert. Das Ziel dieser Arbeit ist es, die...     

Twenty Years of the Ryan Residency Training Program in Abortion and Family Planning

ObjectiveTo summarize the effects of routine, opt-out abortion and family planning residency training on obstetrics and gynecology (ob-gyn) residents’ clinical skills in uterine evacuation and intentions to provide abortion care after residency.MethodsData from ob-gyn residency programs supported during the first 20 years of the Kenneth J. Ryan Residency Training Program in Abortion and Family Planning were analyzed. Postrotation surveys assessed residents’ training experiences and acquisition of abortion care skills. Residency program director surveys assessed benefits of the training to residents and the academic department from the educators’ perspectives.ResultsA total of 2775 residents in 89 ob-gyn programs completed postrotation surveys for a response rate of 72%. During the rotation, residents – including those who only partially participated – gained exposure to and skills in first- and second-trimester abortion care. Sixty-one percent intended to provide abortion care in their postresidency practice. More than 90% of residency program directors (97.5% response rate) reported that training improved resident competence in abortion and contraception care and 81.3% reported that the training increased their own program's appeal to residency applicants.ConclusionOver 20 years, the Ryan Program has supported programs to integrate abortion training to give ob-gyn residents the skills and inspiration to provide comprehensive reproductive health care, including uterine evacuation and abortion care, in future practice. Residency program directors noted that this integrated training meets resident applicants’ expectations.ImplicationsRyan Program residents are trained to competence and are prepared, both clinically and in their professional attitudes, to care for women's reproductive health.     

Lumbar spinal synovial cyst presenting with neurological deficit. A case report and review of the literature

A spinal synovial cyst is a rare condition. We reported a case of lumbar spinal synovial cyst presenting neurological deficit. A 78-year-old woman was admitted to our hospital with the low back pain radiating to the left buttock. A myelography with computed tomography and magnetic resonance imaging revealed an extradural cystic lesion at the L5 and S1 level. At the time of surgery, a standard posterior approach was used to expose the posterior elements from L5 to S1. An en bloc laminectomy and total removal of the cyst was performed at the L5 to S1 level. The postoperative recovery was uneventful except for a slight pain in the left leg which persisted for some time.