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kleinfelter syndrome

Francesca Branch, GiaLinh Nguyen, Nicholas Porter, Heather A Young, Sheena E Martenies, Nathan McCray, Glen Deloid, Anastas Popratiloff, Melissa J Perry
Structural and numerical sperm chromosomal aberrations result from abnormal meiosis and are directly linked to infertility. Any live births that arise from aneuploid conceptuses can result in syndromes such as Kleinfelter, Turners, XYY and Edwards. Multi-probe fluorescence in situ hybridization (FISH) is commonly used to study sperm aneuploidy, however manual FISH scoring in sperm samples is labor-intensive and introduces errors. Automated scoring methods are continuously evolving. One challenging aspect for optimizing automated sperm FISH scoring has been the overlap in excitation and emission of the fluorescent probes used to enumerate the chromosomes of interest...
July 5, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
March 2017: Autoimmunity Reviews
Lara M Kleinfelter, Rohit K Jangra, Lucas T Jae, Andrew S Herbert, Eva Mittler, Katie M Stiles, Ariel S Wirchnianski, Margaret Kielian, Thijn R Brummelkamp, John M Dye, Kartik Chandran
UNLABELLED: Hantaviruses cause hemorrhagic fever with renal syndrome (HFRS) in the Old World and a highly fatal hantavirus cardiopulmonary syndrome (HCPS) in the New World. No vaccines or antiviral therapies are currently available to prevent or treat hantavirus disease, and gaps in our understanding of how hantaviruses enter cells challenge the search for therapeutics. We performed a haploid genetic screen in human cells to identify host factors required for entry by Andes virus, a highly virulent New World hantavirus...
June 30, 2015: MBio
Nancy L Segal
The centenary celebration for Scottish missionary, Mary Slessor, took place on February 14, 2015 in Melle, Belgium. Slessor saved many newborn twins and their mothers from death and disownment by members of their community, including their families, who believed twins harbored evil spirits. The events of this unusual and significant gathering are described. Next, twin research and reports concerning Kleinfelter's disease, atopic diseases, autism and psychotherapy are presented. General interest subjects include identical female twin pole-vaulters, the longest twin birth interval, Franco-Cuban twin vocalists, and Croatian twin models...
June 2015: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
Jas S Kalsi, Paras Shah, Yau Thum, Asif Muneer, David J Ralph, Suks Minhas
OBJECTIVE: To assess the outcome of micro-dissection testicular exploration sperm extraction (m-TESE) as a salvage treatment in men with non-obstructive azoospermia (NOA) in whom no sperm was previously found on single/multiple TESE or testicular sperm aspiration (TESA). PATIENTS AND METHODS: In all, 58 men with NOA underwent m-TESE. All the patients had previously undergone either single/multiple TESE or TESA with no sperm found. All the patients underwent an m-TESE using a standard technique...
September 2015: BJU International
Chintamani, Rohan Khandelwal, Aliza Mittal, Sai Saijanani, Amita Tuteja, Anju Bansal, Dinesh Bhatnagar, Sunita Saxena
BACKGROUND: Breast cancer is one of the most extensively studied cancers and its genetic basis is well established. Dermatoglyphic traits are formed under genetic control early in development but may be affected by environmental factors during first trimester of pregnancy. They however do not change significantly thereafter, thus maintaining stability not greatly affected by age. These patterns may represent the genetic make up of an individual and therefore his/her predisposition to certain diseases...
2007: BMC Cancer
Takumi Sasao, Naoki Itoh, Hiroko Takano, Satoshi Watanabe, Gang Wei, Taiji Tsukamoto, Noboru Kuzumaki, Masato Takimoto
We have previously identified and cloned a human gene, D40, that is preferentially expressed in testis among normal organs, while it is widely expressed in various human tumor cell lines and primary tumors derived from different organs. In this report, we have examined the expression and localization of this protein in human testis with an antibody specific to D40 protein. In Western analyses, the anti-D40 antibody recognized a major band with a molecular mass of 300 kDa and a minor band of 250 kDa. These bands were not observed in the testis lysates from patients with Sertoli-cell-only syndrome and with Kleinfelter syndrome, who lack germ cells of the testis, indicating that D40 protein is expressed in the germ cells of normal testis...
December 2004: Reproduction: the Official Journal of the Society for the Study of Fertility
Tomomi Toubai, Junji Tanaka, Shuichi Ota, Yoko Miura, Nobuyasu Toyoshima, Masahiro Asaka, Masahiro Imamura
We describe the first reported Klinefelter's syndrome (KS) in which allogeneic bone marrow transplantation from an unrelated donor (UR-BMT) was performed for treatment of chronic myelogenous leukemia in blast crisis (CML-BC). A 31-year-old male patient was diagnosed as having CML-BC with KS in April 2001. The result of a bone marrow chromosomal examination were 47, XXY, t(9;22)(q34;q11). After he had been treated with chemotherapy and imatinib mesylate, he underwent UR-BMT in February 2002. After the UR-BMT, his bone marrow chromosome changed from 47, XXY, t(9;22)(q34;q11) to 46,XY and 100% donor-type chimerism was obtained...
April 2004: Leukemia & Lymphoma
No abstract text is available yet for this article.
May 20, 1960: Wiener Klinische Wochenschrift
S G Vorsanova, Y B Yurov, V Y Ulas, I A Demidova, V O Sharonin, A D Kolotii, N L Gorbatchevskaia, A K Beresheva, I V Soloviev
Rett syndrome (RTT) is a severe neurodevelopmental disorder with an incidence of 2.5% in mentally retarded girls in Russia. We have performed cytogenetic studies of 60 patients (57 girls and three boys) with a clinical picture of RTT, selected according to the criteria for diagnosis of RTT defined by B. Hagberg et al. in 1996. Collection of DNA samples and fixed cell suspensions of RTT patients (37 girls and two boys) and their parents (27 patients) was established for molecular studies, for example analysis of MECP2 mutations in a Russian cohort of RTT patients...
December 2001: Brain & Development
M Arslan, Y Bayraktar, G Oksuzoglu, A Ozdemir, C Sokmensuer, M C Yagmurdur, A R Soylu, B Uzunalimoglu, B Kayhan
BACKGROUND/AIMS: Chronic intestinal pseudo-obstruction is a rare clinical syndrome characterized by symptoms and signs of intestinal obstruction without any organic lesion obstructing the intestine. Visceral myopathy is one of the etiological causes and full thickness intestinal biopsy is essential for reaching a diagnosis. In this article we describe 4 cases of hollow visceral myopathy; our aim is to stress the importance of full thickness biopsy. METHODOLOGY: Four cases of hollow visceral myopathy are studied herein...
January 1999: Hepato-gastroenterology
G S Zefirova, A S Vdovichenko
No abstract text is available yet for this article.
May 1968: Klinicheskaia Meditsina
D G Rokhlin, G N Ushakova, A M Ponomarenko, M P Ozol, N V Krylova
No abstract text is available yet for this article.
November 1967: Arkhiv Anatomii, Gistologii i émbriologii
D A Welter, L W Lewis, L Scharff, W S Smith
No abstract text is available yet for this article.
June 1974: American Journal of Ophthalmology
N T Starkova, L G Alekseev
No abstract text is available yet for this article.
July 1968: Problemy E̊ndokrinologii
S Milanov, M Protich, D Panaĭotov
Twenty six patients with Kleinfelter syndrome were examined with the following tests being made use of: 1. J131 cumulation in thyroid gland. 2. Glycemia prior to and post loading with 100 g glucose at the 0 minute, 60th minute, 120th minute and 180th minute. 3. Dosage of protein conjugated iodine in blood. 4. Perchlorate test. 5. Dosage of thyroid hormone of blood level by radioimmunologic method. The results correlate withthe normal values of iodine cumulation and protein conjugated iodine as well as with the negative perchlorate test...
1977: Vŭtreshni Bolesti
V I Kukharenko, A M Kuliev, K N Grinberg, V V Terskikh
The object of this investigation were the parameters of the mitotic cycle in 14 fibroblasts-like cell strains with chromosome aberrations obtained from skin biopsies of patients and from spontaneous human abortuses. In two strains of embryonal origin (trisomic for chromosome and monosomic for chromosome 21) increased duration of stage G2 of the cell cycle accompanied by a shorter period of DNA synthesis was observed. In the other 5 strains of embryonal origin (two strains trisomic for chromosome 7, strains trisomic for chromosome 9, trisomic for chromosome 14 and triploid strains) no deviations from the normal duration of the stages of the cell cycle were observed...
1975: Genetika
R I Kulikov
Morphological peculiarities of brightly fluorescent chromatin (referred to as F-chromatin) in cell nuclei of buccal epithelium stained with propil-quinacrine mustard are studied in 94 healthy men and in 67 healthy women; in 4 men with 46,XYq--, I man with 46,XYq+; in 15 patients with the Kleinfelter syndrome (47,XXY) in 7 women with 46,XY and 5 males with 47,XYY. Diametre of F-chromatin bodies in buccal cells of healthy men varied within 0.9--0.2 mkm. Classification of types of interphase nuclei is proposed based on the rise, quantity and arrangement of F-chromatin bodies...
July 1977: Tsitologiia
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